Board Review Flashcards
1
Q
Prominent forehead , butterfly hemivertebrae, anterior chamber abnormalities of the eye, branch pa stenosis, pulm stenosis, tof
A
Alagille
Jag1 mutations
2
Q
Hypoplasia of thymus and parathyroid, cleft palate, VSD , truncus, ToF , IAA
A
Digeorge
22q11 deletions
3
Q
Upper limb anomalies, ASD, VSD
A
Holt oram
Tbx5 mutations
4
Q
Long limbs, scoliosis, pectus, aortic root dilation, valve prolapse
A
Marfan
FBN1 mutations
5
Q
Wide spaced eyes, ptosis, low set ears, webbed neck, pectus, cryptorchidism, pulm valve stenosis, ToF
A
Noonans
PTPN mutations
6
Q
Bilateral epicanthal folds, tongue protrusion, low nasal bridge, hypotonia, brushfield spots,ASD, VSD, complete AV canal, ToF
A
T21
7
Q
Microcephaly, cleft lip/palate, holoprosencephaly, ophthalmic issues, ASD, VSD, PDA, dextrocardia
A
T13 patau
8
Q
Microcephaly, small mouth, micrognathia, joint contractures, cleft lip/palate, scoliosis, VSD, PDA, valve issues, HLHS
A
T18 edwards
9
Q
Webbed neck, lymphedema, bicuspid aortic valve, aortic stenosis, coarct, interrupted aortic arch
A
Turner XO
10
Q
Elfin facies, stellate pattern of iris, short anteverted nose, long philtrum, prominent lips, supravalvar aortic stenosis, branch pulm art stenosis
A
Williams
7q11 deletion
11
Q
Risk for chd in CHARGE
A
50-70%
12
Q
Risk for CHD in rubinstein-taybi syndrome
A
25%
13
Q
Risk for CHD in t18
A
90%
14
Q
Risk for CHD in t21
A
45-50%
15
Q
First line tx for intrauterine SVT
A
Digoxin
16
Q
Alveolar gas equation
A
= fio2 (barometric P - water vapor P) - pCO2/0.8
sea level=760
Water vapor=47
17
Q
A- a gradient
A
= fio2 (baroP - WV P) - pCO2/0.8 - paO2
>600 is bad
18
Q
OI
A
MAP x fio2/paO2 x 100
> 25 is bad, > 40 = ECMO
19
Q
Most common type of VSD
A
Perimembranous
20
Q
Enzyme activated by NO
A
Guanylate cyclase
21
Q
Most common vasc ring
A
Double aortic arch (40 %)
Persistent R and L 4th branchial arches
2nd most common (30%) R arch with PDA
22
Q
Rhabdomyoma, ash leaf spots, intracranial tumors, eye involvement, sz, mental deficiency, enamel pits in teeth
A
Tuberous sclerosis
Chr9 and 16
AD
23
Q
Tuberous sclerosis chromosome
A
9 or 16
24
Q
Tumor assoc with mccune albright syndrome
A
pituitary adenoma
25
Tumor assoc with nf
Neurofibroma
Pheochromocytoma
schwannoma
26
Tumor assoc with von hippel lindau
Intracranial tumors
Retinal angiomas
Pheochromocytoma
27
Cardiac med that causes cyanide toxicity
Nitroprusside
28
Receptors targeted by norepi
Alpha > beta 1> beta 2
29
Receptors targeted by isoproterenol
Beta only (1 and 2)
30
Receptors targeted by epi
Beta 1 and 2 > alpha
<0.3 beta
>0.3 alpha
31
Receptors targeted by dopamine
```
2 dopaminergic (renal vasodilation)
2-6 beta 1 and dopiminergic
6-20 beta 1 and some alpha
```
Inhibits na/k atpase and na/h pump
32
Receptors targeted by dobutamine
Beta 1 » beta 2
33
Digoxin target
Na/K atpase
Results in increased calcium infux
Decreases svr, hr, AV conduction
34
Milrinone target
Pde3
| Accumulation of cAMP , incr ca entry, INCR contractility, relaxation of vasc smooth musc
35
Off target side effect of milrinone
Thrombocytopenia
36
Most common cyanotic heart lesion in first week of life
Tga
37
Most common cardiac lesion in vacterl
VSD (>50%)
38
Pulmonic stenosis, hypertelorism, down-slanting palpebral fissures, low-set ears, short stature, short webbed neck, pectus excavatum , cryptorchidism, cognitive deficits, bleeding disorders, lymphedema, hypertrophic cardiomyopathy
Noonan, autosomal dominant
| Most common cause of HCM in children under 4
39
Rate of recurrence for tof
3%
40
Cardiogenesis begins
5 wks
41
Heart beats @ embryonic week ?
6
42
Embryonic week of heart septation
7-8 wks
43
Ductus arteriosus arises from which aortic arch
Distal L 6th
44
Branch PAs arise from which aortic arch
Proximal 6th
45
Carotid artery arises from which aortic arch
3rd
46
R subclavian artery arises from which aortic arch
R 4th
47
Aortic arch arises from which arch?
L 4th
48
Most common cause of neonatal htn
Renal artery thrombosis
49
Oxygen content
(1.34 x hgb x sats) + (0.003 x paO2)
50
Most common std in pregnancy
Chlamydia
51
Most common type of conjoined twinning
Thoracopagus
52
Most common indication for primary cs
Failure to progress
53
cleft lip and palate, depressed nasal bridge, nail hypoplasia, umbilical hernia , iugr. What drug?
Phenytoin
54
La place's law
P=2x surface tension/radius
Doubling radius will 1/2 the pressure within the alveoli
CPAP incr radius which decr pressure needed to keep alveoli inflated
55
Weakness, resp distress, bell shaped chest, facial diplegia (carp shaped mouth), talipes equinovarus, prenatal hist of poly and decr fetal movement
Congenital myotonic dystrophy
| Up to 40% mortality
56
Genetics of congenital myotonic dystrophy
```
Autosomal dominant
Triple repeat (ctg) in DMPK gene
Chromosome 19
Maternal anticipation ( maternal facial diplegia, myotonic grip, cardiac conduction defects)
```
57
Genetics of spinal muscular atrophy
Smn1 gene
Chr 5
AR
58
Most common craniosynostosis
Premature closure of sagittal suture
| Scaphocephaly or dolichocephaly
59
Normal head circumference at term
33-38cm
60
Premature suture closure in crouzon or apert syndrome
Coronal (unilateral) - frontal plagiocephaly
61
Premature suture closure in carpenter syndrome
Bilateral coronal
| Brachiocephaly
62
Most common cause of macrocephaly
Benign familial macrocephaly
Autosomal dominant
M>F
63
Most common site involved in neonatal stroke
Left mca >r mca > bilateral mca
64
Most common cause of congenital cataracts
Rubella
65
Hypotonia, excess sleepiness, poor suck, dolichocephaly, almond-shaped eyes, bitemporal narrowing, narrow nasal bridge
Prader willi
66
Hypotonia, severe mental defic, ataxia and jerky puppet-like movements, incr risk for sz, wide spaced teeth, large mouth, protruding tongue, decr iris pigment, deep-set eyes, maxillary hypoplasia
Angelman
67
Hypotonia, microcephaly, abnl fat distrib , inverted nipples, strabismus, cardiomyopathy, protein losing enteropathy, hypoglycemia, coagulation abnorm, sz, cerebellar atrophy, mild to severe psychomotor impairment
Congenital disorders of glycosylation
| Autosomal recessive
68
Hypotonia, resp failure, poor feeding, weakness, contractures, bitemporal wasting, mask-like facies, tented upper lip
Myotonic dystrophy
| Autosomal dominant w/ anticipation
69
Pupillary light reflex matures
30-32w
70
Conjugate horizontal gaze matures
Term
71
Conjugate vertical gaze matures
2m
72
Visual following matures
3m
73
Visual evoked potential reaches adult level
6m
74
Optic nerve myelination complete
24m
75
Most common cause congenital hearing loss: genetic or acquired?
Genetic (50%)
Acquired (25%)
Unknown (25%)
76
Most common genetic cause of hearing loss
Connexin 26 mutation (20-30% of congen hearing loss)
77
Syndromes with hearing loss
```
Alport
treacher collins
pierre robin
T21
T8
Stickler
Charge
Klippel-feil
Waardenburg
```
78
Decibel level of abnormal hearing screen
> or = 35 db
79
% of neonates with congenital hearing loss detected in newborn period
90%
80
Reflex that appears@ 28w, established by 32w, disappears by 2-4m
Persistence assoc with athetoid cp
Palmar grasp
81
Prader willi genetics
Uniparental disomy (paternal deletion) @ 15q11-q13
82
Angelman genetics
```
Uniparental disomy (maternal deletion) 15q11-q13
Both copies paternal
```
83
Excess tearing, corneal clouding, decr pupillary light reflex
Congenital glaucoma
84
Genetics of galactosemia
Absent galactose-1- phosphate-uridyltransferase
| Autosomal recessive
85
Cataracts, second and third toe syndactyly , anteverted nostrils, genital abnorm, microcephaly, growth restr
Smith-lemli-0pitz syndrome
Autosomal recessive
Defect in cholesterol synthesis
86
Syndromes assoc with lissencephaly
Walker-warburg (cerebro-ocular dysplasia syndrome)
| Miller-dieker syndrome
87
Smooth cortex, microcephaly,ventriculomegaly, widened sylvian fissures, complete/partial agenesis of cc
Lissencephaly
| Defect in neuronal migration between 12 and 24 wks
88
Primary neurulation defects
```
Anencephaly
myeloschisis
Encephalocele
Mmc
Arnold-chiari malform
```
Occurs@ 3-4 wks gestation
89
Prosencephalic development (ventral induction) defects
Aprosencephaly
Holoprosencephaly
Agenesis of cc
Septo-optic dysplasia
Occurs @ 2-3 months gest
90
Neural and glial prolif defects
Micrencephaly (small brain)
Macrencephaly (large brain)
Occurs @ 3-4 months gest
91
Neuronal migration defects
Schizencephaly (no cortex)
Lissencephaly (smooth brain)
Pachygyria (broad gyri)
Polymicrogyria
Occurs @ 3-5 months gest
92
Neuronal organization defects
```
T21
Fragile x
Autism
Angelman
Prematurity
```
93
Timing of axonal outgrowth and prolif
3 months gest to birth
94
Timing of dendritic and synapse formation/organization
6 months gest to age 1y
95
Timing of synaptic rearrangements
Birth to years
96
Timing of corticospinal tract myelination
38 w gest to 2y
97
Last pathway to myelinate
Association bundle that connects prefrontal cortex with temporal and parietal lobes
Complete around 32y
98
Mcc infections conjunctivitis in 1st month of life
Chlamydia
99
When is onset of auditory function in the fetus?
20 weeks gestation
100
Most common chd in 22q11
VSD
101
Conotruncal defects (and vsd), palatal abnormalities, vascular ring (or laryngeal web, subglottic stenosis), imperforate anus (or EA, hernias), thymic hypoplasia, prominent nasal bridge, micrognathia, hearing loss, developmental delay, asd (also schizophrenia, add, anxiety), rib/vertebral anomalies, gu ( hydronephrosis , renal anomalies, cryptorchidism, hypospadias), hypo ca, hypoparathyr, gh defic, lymphopenia
22q11 deletion syndrome
102
Sga infant, petite features, micrognathia, clenched hands, rocker bottom feet, chd (vsd,pda)
Also- prominent occiput, low set ears, small mouth, high arched palate , horseshoe kidneys
T18
103
ToF with long appearing fingers and toes, hypocalcemia
22q11 deletion syndrome
104
Upslanting palpebral fissures, midface hypoplasia, protruding tongue, mild hypotonia, bilateral single palmar creases, sandal gap
T 21
105
Risk of intestinal atresia in t21
12%
106
Risk of tmd in t21
10%
107
Risk of hearing problems in t21
75%
108
Risk of cataracts in t 21
15%
109
Hypertelorism, downslanting palpebral fissures, low set ears, cafe au lait spot
Also- wide spaced nipples, short stature , short webbed neck, ps , hcm, cryptorchidism, developmental delay, coag defects, lymphatic dysplasias
Noonan syndrome
110
Most common cardiac defect in noonan syndrome
Pulmonary valve stenosis
| HCM
111
Genetics of noonan syndrome
Autosomal dominant
| Ptpn11 mutation in 50%
112
Cluster of vesicles on erythematous base between 7-14 days of life
Hsv
113
Histologic dx of hsv
Tzanck smear with multinucleated giant cells
114
Histologic diagnosis of etox
Wright stain with eosinophils
115
How does etox look different than hsv
Wider erythematous base
Single white central papule/ pustule
Lesions@24-48 hours of life (and up to 10 days)
116
Eb simplex mutations
Autosomal dominant
| Mutations in keratins, pectins (upper layer epidermis)
117
Junctional eb mutations
Autosomal recessive
| Mutations in laminin, pectin, integrins ( components of epidermis/dermis junction)
118
Dystrophic eb mutations
AR or AD
| Mutations in type 7 collagen ( lower dermis)
119
Solitary well-circumscribed lesion on face/neck/scalp, no hair growth, flat pink or slightly raised orange waxy plaque
Nevus sebaceous
| Made of extra oil glands
120
Dry thickened skin, temp instability, incr insensible water loss, incr risk of infection
Ichthyosis
Thickened skin= buildup of dead skin and keratin
Treat with emollient or retinoids
121
Milia contents
Keratin protein
122
Highest risk window for neonatal varicella
5 days before and 2 days after delivery
No time for maternal antibody transfer
Postnatal exposure, can use cellular immunity to protect from resp droplet exposure (vs hematogenous spread)
123
Histologic findings in cmv
Cells with perinuclear vacuolization around centrally placed nuclei
Owl's eye inclusion bodies
124
Gaucher's disease defect
Glucocerebrosidase
| Anemia, tcp, hepatosplenomegaly
125
Christmas tree cataract
Myotonic dystrophy
126
Gene involved in aniridia (no iris)
Pax 6
Chr 11
part of wagr syndrome = wilms tumor, aniridia, genital anomalies, range of developmental delays
127
Cxr with signif cardiomegaly
Ebstein's anomaly
128
Cxr with boot shaped heart
ToF
129
Cxr with "egg on a string" appearance
TGA
130
Broad distal phalanx of big toe and syndactyly, irregular craniosynostosis, hypertelorism, midfacial hypoplasia , cardiac and neuro defects
Apert syndrome
Autosomal dominant
Fgfr 2
131
Genetics of holt-oram
Autosomal dominant
| Tbx5
132
Absent sternal head of pectoralis, hypoplasia of breast/nipple and defic of subcut tissue, ipsilateral syndactyly or hand malformation
Poland syndrome
| Sporadic
133
Port wine stain over 1st or 2nd division of trigeminal nerve, st, hemiparesis contralateral to facial lesion, ipsilateral tramline intracortical calcifications (leptomeningeal angiomas), ipsilateral eye abnormalities (optic atrophy, glaucoma, buphthalmos)
Sturge weber syndrome
| Inheritance pattern unknown
134
PHACES defects
```
Posterior fossa abnorm.
Hemangioma (large segmental lesion usu on face)
Arterial anomalies
Cardiac anomalies
Eye anomalies
```
135
Male: female distribution in omphalocele
3:1
136
Male: female distribution in gastroschisis
1:1
137
Imprinted syndromes (9 total)
```
Angelman
Prader-willi
Russell-silver
Beckwith-wiedeman
Maternal hypomethylation syndromes
Maternal and paternal uniparental disomy of chr 14
Psendohypoparathyroidism type 1b
Transient neonatal diabetes
```
138
Inheritance: cf
AR
139
Inheritance: alpha-thal
AR
140
Inheritance: beta-thal
AR
141
Inheritance: sickle cell
AR
142
Inheritance: 21-hydroxylase defic
AR
143
Inheritance: congenital muscular dystrophy
'AR
144
Inheritance: protein c and s defic
AD
145
Inheritance: spherocytosis
Majority are AD, minority are AR
146
Inheritance: gilbert disease
AD
147
Inheritance: von willebrand disease
AD
148
Inheritance: congenital myotonic dystrophy
AD
149
Inheritance: nf
AD
150
Inheritance: apert syndrome
AD
151
Inheritance: crouzon syndrome
AD
152
Inheritance: holt-oram syndrome
AD
153
Inheritance: Marfan
AD
154
Inheritance: noonan
AD
155
Inheritance: stickler syndrome
AD
156
Inheritance: treacher-collins
AD
157
Inheritance: aplasia cutis
AD
158
Inheritance: bullous ichthyosis and ichthyosis vulgaris
AD
159
Inheritance: eb simplex
AD
160
Inheritance: Keratosis pilaris
AD
161
Inheritance: partial albinism
AD
162
Inheritance: peutz-jegher syndrome
AD
163
Inheritance: waardenburg syndrome
AD
164
Inheritance: adult polycystic kidney disease
AD
165
Inheritance: familial polyposis
AD
166
Inheritance: gardner syndrome
AD
167
Inheritance: alagille syndrome
AD
168
Inheritance: retinoblastoma
AD
Some with variable penetrance
Sporadic in 60%
169
Inheritance: achondroplasia
AD
170
Inheritance: postaxial polydactyly
AD
171
Inheritance: osteogenesis imperfecta
AD
172
Inheritance: thanatophoric dysplasia
AD
173
Inheritance: fabry disease
XLR
174
Inheritance: hunter disease
XLR
175
Inheritance: menkes disease
XLR
176
Inheritance: ornithine carbamyl transferase
XLR
| Many heterozygote FEMALES affected, likely due to x inactivation
177
Inheritance: glucose-6-phosphate dehydrogenase defic
XLR
178
Inheritance: Wiskott-Aldrich syndrome
XLR
179
Inheritance: hemophilia a and b
XLR
180
Inheritance: red-green color blindness
XLR
181
Inheritance: duchenne muscular dystrophy
XLR
182
Inheritance: hypohidrotic ectodermal dysplasia
XLR
183
Inheritance: x-linked ichthyosis
XLR
184
Inheritance: nephrogenic DI
XLR
185
Genetic disorders associated with advanced paternal age
```
Achondroplasia
Apert syndrome
Crouzon syndrome
NF
OI
Thanatophoric dysplasia
Possibly klinefelter and t21
```
186
Conditions with female > male
```
Choanal atresia (2:1)
Choledochal cysts (2.5:1)
Congenital hip dysplasia (5.5:1)
Ureterocele (5-7:1)
T18 (3:1)
ASD (2:1)
PDA (3:1)
Anencephaly (3:1)
Congenital hypothyroid (2:1)
```
187
Risk of chd if 1 previous child with chd
3-4%
188
Risk of chd if 2 prior children with chd
10%
189
Risk to next child if: 1 child cleft lip and unaffected parents
4-5%
190
Risk to next child if: 1 child with cleft lip and 1 parent
10%
191
Risk to next child if: 1 child with cleft palate
2-6%
192
Risk to next child if: 1 child with club foot
2% if 1st child male
| 5% if 1st child female
193
Risk to next child if: 1 parent with club foot and 1 child
25%
194
Risk to next child if: 1 child with hip dysplasia
0.5% if male
6.3% if female
Overall, 3-4%
195
Risk to next child if: 1 child with hirschsprung
3-5%
196
Risk to next child if: 1 child with neural tube defect
3-5%
197
Risk to next child if: mother with pyloric stenosis
19% if son, 7% if daughter
198
Risk to next child if: father with pyloric stenosis
5.5% if son, 2.4% if daughter
199
Risk to next child if: 1 child with pyloric stenosis
3% (4% if male, 2.4% if female)
200
Risk to next child if: mother has balanced t21 translocation
10-15%
201
Risk to next child if: father has balanced t21 translocation
5%
202
Risk to next child if: prior child with t21 and no parent with translocation
1% risk to sibling until risk from ama is higher than 1% (after 37yrs)
203
Incidence of CF carrier status in caucasians
1 in 25
204
Deep creases in palms/soles, camptodactyly (flexion of pip joint), thick lips, deep set eyes, prominent cupped ears, prominent forehead, hypertelorism, micrognathia, short/webbed neck, mild to severe mental deficiency, pelvic dysplasia, hip dysplasia, uteral-renal anomalies, may have cardiac abnormalities
Tri 18
| Usu mosaic
205
VSD>PDA, cutis aplasia, polydactyly, narrow hyperconvex fingernails, cleft lip/palate, small eyes, colobomas, retinal dysplasia, sloping forehead, bulbous nose, umb/ing hernia, cryptorchidism, abnl scrotum, bicornuate uterus, microcephaly, holoprosenaphaly, sz, severe mental deficiency, deafness, pelvic dysplasia, apnea, persistence of fetal hemoglobin, incr neutrophils with nuclear projections
```
Tri 13
Triple screen not helpful
80% with complete trisomy, extra chr of maternal origin , remainder with translocation
90% die in 1st year of life
Diagnose with karyotype
```
206
Tri 18 male-female ratio
I male: 3 female
207
VSD, PDA> bicuspid av , ps, coarct, tof
Overlapping fingers and clenched fist, hypoplastic nails, rocker bottom feet
Micrognathia (+/- pierre robin sequence) , small mouth, small eyes, small palpebral fissures, malformed low-set ears, occipital prominence
Umb or ing hernia, cryptorchidism
Narrow bpd, choroid plexus cyst, mental defic
Single umb art, iugr, short sternum
Tri 18
95% of conceptions result in sport abortion
50% mortality in 1st wk, 90-95% die in 1st year
208
Triple screen: low hcg, low estriol, low afp
Tri 18
| Inhibin a normal
209
Proportion of tri 21 born to mothers <35 yrs
3/4
| Due to higher reproductive rate
210
Quad screen: high hcg, low estriol, low afp, high inhibin a
Tri 21
211
Cri du chat genetics
5p deletion
Majority de novo
Deleted portion is paternal origin in 80%
212
VSD, PDA, ToF
Transverse palmar crease
Hypertelorism, downward slant of palpebral fissures, round facies, epicanthal folds, strabismus, low-set ears
Severe mental deficiency, cat-like cry , microcephaly, hypotonia
Lbw , FTT
Cri du chat syndrome
| 5p deletion
213
IQ in tri 21
25-60
214
Proportion of tri 21 with hearing loss
75%
215
Proportion of tri 21 with robertsonian translocation
3-5%
| Usu chr 13,14,15
216
Thumb hypoplasia, 5th finger clinodactyly, short big toe, talipes equinovarus
Colobomas, incr risk retinoblastoma (usu bilat), small eyes
Microcephaly, micrognathia, large malformed and low set ears, high nasal bridge, hypertelorism, ptosis, epicanthal folds
Hypospadias, cryptorchidism
Mental deficiency
Iugr, focal lumbar agenesis
Deletion 13q syndrome
217
Genetics of wolf- hirschhorn syndrome
4p deletion
87% de novo
13% with 1 parent with balanced translocation
Phenotype depends on length of deletion
218
High forehead, broad or beaked nose, hypertelorism, low set simple ear with preauricular dimple, prominent glabella, supraorbital ridge continuous with nasal bridge, short philtrum, micrognathia
"Greek warrior helmet" appearance
Microcephaly, cranial asymmetry, hypotonia, severe cognitive defects, sz
IUGR, hypospadias, cryptorchidism, cardiac abnorm
Wolf-hirschhorn syndrome
| Deletion 4p syndrome
219
Genetics of angelman syndrome
70% are deletion of 15q 11-13 with deleted piece of maternal origin
<5% paternal uniparental disomy
20-30% point mutations or other abnorm of maternal 15q11-13
220
Inappropriate bursts of laughter, wide spaced teeth, large mouth, protruding tongue, decr iris pigment, deep-set eyes, maxillary hypoplasia, microbrachycephaly
Initial hypotonia, severe mental defic, delayed motor skills, absent speech or <6 word vocab, ataxia and jerky movements,sz
Angelman syndrome
| Deletion of maternal 15q11-13 or paternal uniparental disomy
221
Anatomic etiology of 22q 11.2
Defect in 4th brachial arch and derivatives of the 3rd and 4th pharyngeal pouches
222
Most common chromosomal deletion
22q 11.2
| Autosomal dominant
223
Arch abnormalities,vsd, pda , tof
Cleft palate, prominent nose with square nasal root and harrow alar base (bulbous), hypertelorism, protuberant ears, micrognathia, short philtrum, short palpebral fissures, small mouth
Diaphragmatic hernia, impert anus, esoph atresia
Hypoplastic parathyroid glands with hypocalcemia, deficient cellular immunity, choanal atresia, abundant scalp hair, microcephaly, slender and hyperextensible hands and fingers, developmental delay
22q 11.2 microdeletion syndrome
224
Genetics of Prader-Willi syndrome
75% with deletion of 15q 11-13 with deleted piece of paternalorigin
15-20% result from maternal uniparental disomy of 15q
5% from mutation of imprinting center or chromosomal translocation of 15q- these can recur
225
Small hands and feet
Almond-shaped palpebral fissures, may be upslanting
Thin upper lip, light-colored hair and eye color
Hypogenitalia, undescended testes
Infantile hypotonia (profound), poor suck, mild-severe mental defic, behavioral problems
FTT in infancy, followed by obesity, typically breech position @ delivery
Risk for hypothyroid
Prader-willi syndrome
| Paternal 15q 11-13 deletion
226
Rate of hypothyroid in prader-willi
25%
227
Diagnosis of prader-willi/ angelman
Methylation analysis
| Can also do high resolution chromosome analysis to for look translocation which is impt for recurrence risk
228
Treatment options for prader-willi
Hcg for cryptorchidism
Gh to improve linear growth and lean muscle mass
Ssri for behavioral issues
229
Genetics of rubenstein-taybi syndrome
Microdeletion @ 16 p 13.3
Encodes cAMP regulated enhancer binding protein (CREB)
Majority are sporadic
230
PDA, VSD, ASD
Broad thumbs with radial angulation, broad 1st toes, 5th finger clinodactyly, flat feet, joint hypermobility
Downward slanting palpebral fissures, hypoplastic maxilla, narrow palate, prominent beaked nose, deviated nasal septum, low-set ears with dysplastic helices, long eyelashes, heavy eyebrows, eye anomalies (nasolacrimal duct obstr, ptosis, glaucoma, strabismus, refractive error)
Hirsutism, cheloid formation
Microcephaly, speech difficulties, stiff unsteady gait, hypotonia, cryptorchidism, developmental delay , postnatal growth defic, incr risk braintumor/leukemia (usu
Rubenstein-taybi syndrome
| 16 p 13.3 deletion (creb)
231
Genetics of wagr syndrome
Microdeletion@ 11 p 13
Usu de novo
Phenotype variability because of diff sized deletions
232
Wilms tumor
Aniridia
GU anomalies
Moderate to severe mental deficiency
Prominent lips, micrognathia, malformed ears, congenital cataracts, nystagmus, ptosis, blindness
Hypospadius, cryptorchidism
Microcephaly, short stature, renal failure, gonadoblastomas
WAGR syndrome
11p13 deletion
Wilms tumor in 50%
233
Genetics of williams syndrome
7q11.23 deletion
Deletion of elastin gene
Majority sporadic
234
Supravalvular subdortic stenosis > PPS,VSD,asd, coarct
Hypoplastic nails
Prominent lips with open mouth, hoarse voice, blue eyes, stellate iris pattern, periorbital fullness, enamel hypoplasia, depressed nasal bridge, short palpebral fissures, epicanthal folds, long philtrum
Mental defic (iq 41-80), mild microcephaly
Renal asymmetry, pelvic kidney
Hypercalcemia (usu transient), mild perinatal growth restr
Williams syndrome
| 7q 11.23 deletion (includes elastin gene)
235
Cardiac anomaly assoc w/ williams syndrome
Supravalvular subaortic stenosis
236
Syndrome assoc with supravalvular subaortic stenosis
Williams syndrome
| 7q 11.23 deletion (includes elastin gene)
237
Genetics of achondroplasia
Fgfr3 mutation
Autosomal dominant
80-90% new mutation
238
Glucose intolerance
Trident hands
Short limbs
Depressed nasal bridge, prominent mandible, frontal bossing
Megalocephaly, mild hypotonia, small foramen magnum (may lead to hydroceph), caudal harrowing of spinal cord
Abnl vertebrae , short stature, spinal complications, narrow chest, flattened vertebral bodies (platyspondyly)
Achondroplasia
Fgfr 3 mutation
Autosomal dominant
239
Intelligence in achondroplasia
Normal
240
Apert syndrome genetics
Fgfr 2 mutation
| Autosomal dominant
241
Crouzon syndrome genetics
Fgfr 2 mutation
Autosomal dominant with variable expression
242
Hypertelorism, maxillary hypoplasia, shallow orbits, ocular proptosis, frontal bossing, curved parrot beak nose, strabismus
Premature craniosynostosis (esp coronal, sagittal,lambdoid)
Decr visual acuity, conductive hearing loss
Cronzon syndrome
Fgfr 2 mutation
AD
243
Hypertelorism, midface hypoplasia, shallow orbits, abnl skull shape, large fontanelles, flat facies, down-slanting palpebral fissures, small nose, maxillary hypoplasia, narrow palate, dental anomalies, strabismus
Broad distal phalanx of thumb and big toe, syndactyly of hands and feet
Irregular craniosynostosis (esp coronal)
VSD, PS, overriding aorta
Mental defic, neuro defects
Acne, fusion of cervical vertebrae
Apert syndrome
Fgfr 2 mutation
AD
244
Genetics of beckwith -wiedemann syndrome
```
11p 15,5
50% hypomethylation of centromeric imprinting center
15% uniparental disomy
10% mutation in CKN1C imprinting center
5% loss of imprinting of IFG2
```
Usu sporadic
15% with autosomal dominant transition with variable expression and incomplete penetrance
245
Polyhydramnios, prematurity
Macroglossia, linear earlobe fissures, infraorbital hypoplasia, capillary nevus hammeus, large fontanelle, exophthalmos, metopic ridge, prominent occiput
Omphalocele, diastasis recti
Macrosomia, accelerated ossification, organ hyperplasia ( renal , pancreatic, pituitary), fetal adrenocortical cytomegaly
Microcephaly
Polycythemia, cryptorchidism, chd, intra-abd malignancies (wilms tumor, hepatoblastoma)
Limb hypertrophy, hypoglycemia, placental mesenchymal dysplasia
Beckwith-wiedemann syndrome
11p 15.5
Methylation study
246
Infant mortality in beckwith.wiedemann syndrome
21%
| Healthy outcome in most who survive infancy
247
Tumor surveillance in beckwith-wiedemann syndrome
@Risk for wilms tumor and hepatoblastoma
Abd us every 3 months until age 7
Follow afp
Greatest risk if hemihypertrophy and nephromegaly
248
Mental capacity in beckwith-wiedemann syndrome
Usu normal
249
Genetics of holt oram syndrome
12q2
Tbx5
Autosomal dominant
250
Most common cardiac defect in holt oram syndrome
ASD
251
ASD>VSD, coarct, conduction defect
| Upper limb defects, absent/hypoplastic or abnomally-shaped thumbs, narrow shoulders
Holt oram syndrome
12q2
Tbx 5
252
Genetics of marfan syndrome
15q 21.1
Fibrillin gene
Autosomal dominant with variable expression
253
Marfan syndrome management
Yearly echo
Monitor for scoliosis
Annual ophtho exam ( risk for lens subluxation)
Beta blocker to decrease risk aortic dilation
Antibiotics before dental procedures
Minimize contact sports and intensive exercise
254
Genetics of noonan syndrome
12q 22
Autosomal dominant with wide variable expression
Test with gene panel
255
Most common cardiac defect in noonan syndrome
Dysplastic pulm valve
256
Dysplastic pulmonary valve >ASD, cardiomyopathy
Pectus excavatum
Short webbed neck, low post hairline, epicanthal folds, hypertelorism, ptosis, low-set or abnormal ears, low nasal bridge, downslanting palpebral fissures
Cryptorchidism, small penis
Mental deficiency
Short stature, coag abnorm, incr incidence von willebrand disease, thrombocytopenia , cystic hygroma
Noonan syndrome
| 12q 22
257
Genetics of osteogenesis imperfecta
Collagen 1 mutation
| Autosomal dominant
258
Most severe type of oi
Type 2
| Usu stillborn or die early in infancy due to resp failure
259
Genetics of stickler syndrome
12 q 13.11- 13.2
Collagen type 2 mutation
Autosomal dominant with variable expression
260
Hereditary arthro-ophthalmopathy
Stickler syndrome
Chr 12
Collagen type 2
261
```
Flat facies, depressed nasal bridge, prominent ears, epicanthal folds, short anteverted nose, mid face or mandibular hypoplasia ( may have pierre robin sequence), enamel anomalies, myopia, chorioretinal degeneration, cataracts, retinal detachment
Deafness, hypotonia, hyper extensible joints
Spondyloepiphyseal dysplasia (flat vertebrae with ant wedging, poorly developed distal tibial epiphyses, flat femoral epiphyses )
Mitral valve prolapse
```
Stickler syndrome
Chr 12
Type 2 collagen
262
Genetics of thanatophoric dysplasia
4p 16.3
Fgfr3 mutation
Autosomal dominant
All cases new mutations
263
Most common type of thanatophoric dysplasia
Type l
Curved long bones and flat vertebral bodies
T2 has straight femoral bones and cloverleaf skull
264
Short limbs, bowed long bones
Large cranium, low nasal bridge, bulging eyes, small facies
Temporal lobe dysplasia, hydrocephalus, brain stem hypoplasia, hypotonia, severe developmental delay
Flat vertebrae
IUGR, narrow thorax, polyhydramnios
Thanatophoric dysplasia
Chr4
Fgfr3 mutation
High mortality after birth due to small thorax and resp insuffic
265
Genetics of treacher-collins syndrome
Chr 5
TCOF1 gene (1st and 2nd branchial arch maldevelopment)
Autosomal dominant with variable expression
60% new mutations
266
```
Lower eyelid coloboma
Downslanting palpebral fissures
Mandibular hypoplasia
Dysmorphic ears
Malar hypoplasia with or without cleft in zygomatic bone
Partial to total absence of lower eyelashes
Conductive hearing loss
Visual loss
Normal intelligence
```
Treacher- collins syndrome
Chr 5
TCOF1 gene
Branchial arch 1 and 2 maldevelopment
267
Genetics of waardenburg syndrome
Autosomal dominant
4 types
T1- PAX3 mutation on 2q 35
T2- microophthalmia gene mutation on 3p 12.3-14.1
268
```
Deafness
Pigmentary abnormalities-white forelock, partial albinism, isochromic blue eyes with hypochromic iris, premature graying
Thick eyebrows
Aplasia of posterior semicircular canal
Short palpebral fissures
Broad nasal bridge
Broad mandible
```
Waardenburg syndrome
T1-pax 3 mutation, chr2
T2-microphthalmia gene mutation, chr 3
269
PDA, VSD, ASD, PS, TOF, TGA
Polydactyly, syndactyly (feet), clindodactyly
Lateral displacement of inner canthus, shallow supraorbital ridges, flat nasal bridge, corneal opacity, optic atrophy, low-set malformed ears, hypoplastic mandible and or maxilla, high arched palate
Brachycephaly, mental defic
FTT, hypogenitalia, umb hernia, omphalocele
Carpenter syndrome
Autosomal recessive
50% have cardiac anomalies
270
Chondroectodermal dysplasia
Ellis-van creveld syndrome
| Autosomal recessive
271
```
Single atrium or ASD
Short distal extremities, polydactyly (fingers > toes), nail hepoplasia, short stature
Delayed tooth eruption, short upper lip
IUGR, narrow thorax
Normal intelligence
```
```
Ellis-van creveld syndrome
Autosomal recessive
Chondroectodermal dysplasia
50% mortality during infancy due to cardioresp difficulties
60% with cardiac anomalies
```
272
Diagnosis for fanconi pancytopenia syndrome
Breakage study
273
Hyperpigmentation
Radial hypoplasia, thumb hypoplasia, short stature
Ptosis, nystagmus, microphthalmos, strabismus
Renal and urinary tract anomalies, hypospadias, small genitalia
Pancytopenia
Microcephaly, mental defic
IUGR, incr risk resp infections , may have cardiac defect
Incr risk AML
Fanconi pancytopenia syndrome
Autosomal recessive
Chromosomal breaks in lymphocytes
35% mortality due to hematologic abnormalities
274
Genetics of mickel-gruber syndrome
17q 21-24
| Autosomal recessive
275
ASD, VSD, PDA, coarct,PS
Postaxial polydactyly
Microphthalmia, cleft palate, micrognathia, ear anomalies
Cryptorchidism, incomplete genitalia
Occipital encephalocele, microcephaly, cerebral and cerebellar hypoplasia, hydrocephaly, absence of CC, septum pellucidum, or olfactory lobes/tract
Cystic dysplastic kidneys
Bile duct proliferation, hepatic cysts
Meckel-gruber syndrome
Chr 17
Autosomal recessive
Elevated afp if encepholocele present
276
Abnormal labs in smith lemli opitz
Low cholesterol
| High 7-dehydrocholesterol
277
2nd and 3rd toe syndactyly, polydactyly
Phosis, cataracts, inner epicanthal folds, micrognathia, cleft palate, low-set or slanted ears, anteverted nostrils
Gul abnormalities (failure of masculin), renal anomalies
Microcephaly, moderate-severe mental defte, maybe hypotonic in infancy
IUGR, often breech
Smith lemli opitz syndrome
Defect in cholest synthesis
Can look for low cholesterol and incr 7-dehydrocholesterol in amniotic fluid
95% with syndactyly, 70% with gu anomalies
278
Cardiac defects assoc with TAR
ToF
ASD
Present in 1/3
279
Most common cardiac anomaly in holt oram
ASD
280
CDH, incr risk hirschsprung disease, duod atresia, imperf anus
Agenesis of cc, dandy walker malformation, hydroceph, olfactory tract abnorm, optic hypoplasia, neuronal heterotopias , severe intellectual disability
Cloudy cornea, microphthalmia, anteverted nares, cleft lip/palate, coarse facial features
Polyhydramnios, cystic hygroma, aortic abnorm, digital and nail hypoplasia, renal anomalies
Fryns syndrome
Autosomal recessive
281
Kinky hair syndrome
Menkes
X-linked recessive
Abnormal copper transport- copper defic
282
How to diagnose menkes prenatally
Abnormal copper uptake in cultured amniotic fluid cells
283
CHARGE stands for:
```
Coloboma
Heart disease
Atresia of choanae
Retarded growth
Genital hypoplasia
Ear anomalies
```
284
Genetics of charge syndrome
Chromodomain helicase dna-binding gene 7 (CHD7) mutation
Chr 8q 12
Leads to altered chromatin
Autosomal dominant, most de novo
285
When does Pierre Robin sequence occur (fetally)
Mandibular hypoplasia prior to 9wks of development
286
Syndromes with port -wine stains
Sturge weber
Beckwith wiedemann
Klippel trenaunay weber
Cobb
287
Partial oculo cutaneous albinism
Peripheral neuropathy
Recurrent infections
Abnormal neutrophil degranulation
Chediak higashi syndrome
288
Cutaneomeningospinal angiomatosis
| Port wine stains with underlying spinal angiomas
Cobb syndrome
289
Chromosomal anomalies assoc with cutis aplasia
Tri 13
| 4p deletion syndrome
290
Gram positive cocci in clusters
Staph
291
Gram positive cocci in pairs and chains
Strep
292
Charge major criteria
Coloboma
Choanal atresia/stenosis
Cranial nerve dysfunction
Ear anomalies
Diagnose with all 4 major or 3 major +3 minor
293
Charge minor criteria
```
Heart defects
Genital hypoplasia
Developmental delay and growth problems
Cleft lip/palate
Tef
Characteristic facial features
```
294
Initial screening tests for t21
```
Cbc
Echo
Thyroid
Hearing
Red reflex to look for cataract
```
295
Newborn covered in tight yellow-brown shiny scale, lower eyelid and lips turn outward, thickened skin on palms and soles, dysplastic nails
Colloidian membrane
Risk for hypothermia, hypernatremic dehydration, infection
Majority eventually diagnosed with congenital ichthyosiform erythroderma, assoc with dev delay, scarring, alopecia
296
Genetics of von hippel lindau
Chr3
Autosomal dominant
Over expression of transcr factor hif leading to incr tumor growth
297
Tumors in von hippel lindau
Hemangioblastoma, most common in cerebellum
Multiple systemic hemangiomata
Retinal angiomas
Pheo
298
```
Irregular brown pigmentations
Fibrous dysplasia of bones
Precocious puberty
Hyperthyroid
Hyperparathyroid
Pituitary adenomas
```
Mccune albright
| Sporadic
299
Most common disorder of skeletal development that manifests in neonatal period
Osteogenesis imperfecta
col1a mutation
Type 2 most severe, lethal
300
Characteristic spine xr finding in achondroplasia
Decreased distance between each vertebra moving downward (decreasing interpediculate distance from apper to lower spine)
301
Narrow thorax, short ribs, pre and postaxial polydactyly, fusion of metacarpals and phalanges, dysplasia of pelvis, congenital heart disease, dental abnorm, hypoplastic nails
Ellis-van creveld syndrome
Defect in EVCl and 2 genes
Autosomal recessive
302
Asphyxiating thoracic dysplasia
Jeune syndrome
IFT80 mutation
Autosomal recessive
303
Narrow thorax, short ribs, resp insuff, postaxial polydactyly, short middle and distal phalanges, cone shaped epiphyses, progressive renal disease, pancreatic and hepatic fibrosis, hirschsprung disease, hydrocephalus
Jeune syndrome
Aka asphyxiating thoracic dysplasia
Defect in IFT80
Autosomal recessive
304
```
Midline cardiac defects (eg. Vsd)
Cutis aplasia
Polydactyly, narrow hyperconvex nails
Cleft lip/palate
Small eyes, colobomas, retinal dysplasia
Sloping forehead
Umb or ing hernia
Cryptorchidism
Microcephaly, holoprosencephaly, sz, severe mental defic
Deafness
Apnea
Persistence of fetal hgb
```
Tri 13
305
```
Macrocephaly with incr total brain volume
Long narrow face with prominent forchead
Large ears
Wide nasal bridge
Epicanthal folds
Hyperextensible joints
Large testes post puberty
Intellectual disability
```
Fragile X
Unstable expansion of cgg trinudeotide repeats that results in loss of function in FMR1 gene
50-200 repeats = premutation, females at incr risk of premature ovarian insuffic and neurocognitive defects
>200 repeats = mutation = methylation-coupled silencing of FMR1 gene
306
Most common inherited cause of developmental delay and intellectual disability
Down syndrome followed by fragile x
307
```
Hypoplastic nails
Prominent lips
Hoarse voice
Stellate iris pattern
Mental deficiency
Renal anomalies
Transient hypercalcemia
Supravalvular subdortic stenosis
```
Williams syndrome
| 7q 11. 23 deletion of elastin gene
308
```
2nd and 3rd toe syndactyly
Anteverted nostrils
Failure of masculinization of genitalia
Moderate-severe mental defic
FTT
```
Smith-lemli-opitz
Defect in cholesterol synthesis
low cholesterol, high7-dehydrocholest
309
Southern blot
Dna
310
Northern blot
Rna
311
```
Cardiac defects
Broad thumbs and toes
Downslanting palpebral fissures
Hypoplastic maxilla
Hirsutism
```
Rubenstein-taybi
16p 13.3 deletion
CREB (cAMP-regulated enhancer-binding protein)
312
Proportion of infants with second anomaly it talipes equinovarus is defected prenatally vs postratally
60% prenatally vs 10% postratally
313
Turner syndrome patients mosaic for 45x/46xy are at increased risk for what cancer
Gonadoblastoma
314
```
Refractory seizures
Lactic acidosis
Focal bilateral lesions in basal ganglia
Hypotonia
Long curly eyelashes
```
Leigh syndrome
| Mitochondrial disorder
315
```
6+ cafe au lait macules
Axillary or inguiral freckling
Macrocephaly
Learning disabilities
No neuro or endocrine findings
```
Legius sundrome
SPRED1 gene mutation
Autosomal dominant
316
Precocious puberty
| Cafe au lait macules w/ coast of maine appearance
Mccune albright
| GNAS1 mutation
317
Most common skin findings in congenital syphilis
None (60%)
When present: condylomata lata with rhagades (linear scars), mucous patches on lips/tongue/palate, erythematous papulosquamous eruptions, petechia and hemorrhagic vesicles, bullae (pemphigus syphiliticus)
318
Tzanck smear results in incontinentia pigmenti
Eosinophils
319
Mutation in dystrophic eb
Collagen type 7
320
Mutation in eb simplex
Keratin (k5 or k14)
321
Mutations in junctional eb
```
Laminin 5 (herlitz junctional eb)
Integrin alpha 6/ beta 4 (junctional eb with pyloric atresia)
Collagen type 17 (non-herlitz junctional eb)
```
322
Infant recently weaned from breast milk
Scaling erythematous eruption around mouth and in diaper area
Sparse hair, diarrhea, failure to gain weight
Acrodermatitis enteropathica
Autosomal recessive
Defective transport protein causes impaired zinc absorption
323
Entire limb is small
Micromelia
324
Proximal long bones are short
Rhizomelia
325
Distal long bones are short
Mesomelia
326
Bones of hands and feet are short
Acromelia
327
Bone findings in tri 18
11 rib pairs
hypoplastic ribs
Vertebral anomalies
328
Which polydactyly is more likely assoc with a syndrome, pre- or post-axial ?
Post-axial (pinky side)
Ellis-van creveld, tri 13, tri 21, chrondroectodermal dysplasia
Post-axial also more common in african americans, pre-axial more common in caucasians
329
Work-up for heterotaxy
Abd us
Echo
Head imaging
Renal us
330
Risk of hep B transmission if mom HBsAg+/HBeAg+
70-90%
331
Risk of hepb transmission if mom HBsAG+/HBeAg-
5-20%
332
Risk of transplacental transmission of untreated primary syphilis
70-100%
333
Hutchison triad
8th cranial nerve deafness
Interstitial keratitis
Hutchison teeth (peg-shaped notched central incisors)
Late finding of congenital syphilis (>2yrs)
334
Eye findings in congenital syphilis
Chorioretinis/ uveitis
335
Heme findings in congenital syphilis
Hemolytic anemia
| Thrombocytopenia
336
Bone findings in congenital syphilis
Osteochondritis (early)
Anterior bowing of shins (saber shins) - late
Symmetric painless knee swelling (clutton joints) - late
Frontal bossing-late
Hutchison teeth (peg shaped notched central incisors) - late
337
Treatment of congenital syphilis
Aqueous crystalline penicillin g iv x 10 days
338
Chonoretinitis
Cortical brain calcifications
Hydrocephalus
Congenital toxo
339
Heme findings in congenital toxo
Blueberry muffin rash (extramedullary hematopoiesis)
| Tcp
340
Skin findings in congenital toxo
Blueberry muffin rash
| Maculopapular rash
341
Long term effects of congenital toxo
Hearing loss
Visual impairment
Mental defic
342
Treatment of congenital toxo
Pyrimethamine + sulfadiazine x 1yr
| Also give folinic acid while on sulfadiazine
343
Risk of hiv transmission from untreated mother to infant
25%
344
Recommended testing for hiv-exposed infant
48 hol ( 30% positive)
1-2 months
2-4 months
Preferred test is pcr
345
Most likely presentation of untreated infant with maternally-acquired hiv
Pip pneumonia (1/3)
346
Neuro/eye findings in congenital cmv
Chorioretinitis
Microcephaly
Sensorineural hearing loss-30-40% of symptomatic (only half id’ed on newborn hearing screen), 5-10% of asymptomatic
Periventricular califications
347
Heme findings in congenital cmv
Tcp
Blueberry muffin rash (extramedullary hematoporesis )
Indirect hyperbili
Coagulopathy
348
Gbs osteo timing and bone
3-4 wks
| Humerus
349
Most common site of origin for osteo (bone and location)
Femur
| Metaphysis
350
What e coli antigen is more likely to lead to meningitis
K1
351
Chorioretinitis with salt and pepper fundus
Early congenital syphilis
352
Chorioretinitis with severe yellow-white exudate and retinal necrosis
Perinatal or congenital hsv
353
Chorioretinitis with diffuse granular pigmented areas, salt and pepper appearance
Congenital rubella, occurs in 5% of affected infants
| No alteration in vision
354
Chorioretinitis with numerous yellow-white fluffy retinal lesions, hemorrhage, bilateral
' Congenital cmv
Treat with ganciclovir
20% of affected infants
355
Chorioretinitis that is necrotizing and results in large atrophic retinal scars that often involve the macula, usually bilateral
Congenital toxo
| 80-90% of affected infants
356
Chorionetinitis with fluffy white balls
Candidiasis
357
Gram + diplococci in chains
Gbs
358
Most likely serotype of gbs
-serotype 3
359
Most common serotype in early onset listeria
1a and 1b
360
Most common serotype in late-onset listeria
4b
361
How do you culture gonorrhea
Thayer-martin growth medium
362
Obligate intracllular bacteria
Chlamydia
363
Gram neg intracellular diplococci in pairs
Neisseria gonorrhea
364
Diagnosis of chlamydia
Culture with giemsa stain
| Not detectable by gram stain
365
Type of virus: hsv
Ds-dna
366
Type of virus: cmv
Ds-dna
367
Type of virus: vzv
Ds-dna
368
Type of virus: hhv6
Ds-dna
369
Eye findings in congenital hsv
Microphthalmia
Chorioretinitis
Cataracts
Blindness
370
Neuro findings in congenital hsv
```
Microcephaly
Hydranencephaly
Intracranial calcifications
Hypertonicity
Seizures
```
371
Skin findings in congenital hsv
Vesicles present at birth
Scar
Hypopigmented lesions
372
Type of virus: rsv
Rna paramyxovirus
373
Type of virus: hepb
Ds-dna
374
Type of virus: hepc
Ss-rna
375
Type of virus: hepa
Ss-rna
376
Type of virus: hepe
Ss-rna
377
Type of virus: parvo b19
Ss-dna
378
```
Cicatricial lesions along dermatomes, scarred or segmental
Limb abnormalities incl limb atrophy, usu distal to cutaneous lesions
Cataracts, chorioretinitis
Severe mental defic, seizures
Intracranial calcifications
Pneumonia
Encephalopathy
Hepatitis
Possible early death
```
Congenital varicella syndrome
| Most common if maternal infection in 1st 20 weeks
379
Poor growth
Hydrops
PDA
Blueberry muffin rash
Sensorineural hearing loss
TCP, hemolytic anemia
Congenital glaucoma, cataracts, microphthalmia, salt and pepperchorioretinitis
Insulin dependent diabetes, thyroid disease
Long bone striated radiolucencies (celery stalking)
Congenital rubella syndrome
Greatest risk of anomalies if exposed in 1st trimester
Anomalies rare after 20 wks
380
Diagnosis of congenital rubella
Fetal rubella IgM from PUBS
Viral Cx of nasopharynx, blood, and urine
Rubella IgM serum levels and serial rubella IgG levels
381
Type of virus:HIV
Ss-rna retrovirus
382
Type of virus: enterovirus
Ss-rna
383
Type of virus: rotavirus
Ds-rna
384
Which congenital infection is more severe if acquired late in pregnancy
Syphilis
385
Which congenital infection is transmitted most early or late in pregnancy, in a u-shaped distribution
Rubella
386
Endocrine effects of congenital rubella
Insulin dependent diabetes
| Thyroid disease
387
Congenital neutropenia
Kostman syndrome
Neutrophil elastase gene mutation
90% of pts respond to r gcsf
388
Placental transport of water soluble vitamins
Active
389
Placental transport of fat soluble vitamins
Simple or facilitated diffusion
390
Which type of vitamins accumulate in the body?
Fat soluble
| and b12
391
Which type of vitamins requiredaily intake to prevent deficiencies?
Water-soluble
392
```
Vitamin deficiency:
Photophobia, conjunctivitis
Abnormal epiphyseal bone formation and tooth enamel
Generalized scaling
FTT
```
Vitamin A
393
```
Vitamin deficiency:
Fatigue
Irritability
Constipation
Cardiac failure
```
```
Vitamin b1 (thiamine)
Aka beriberi
Assoc with pyruvate dehydrogenasecomplex defic and maple syrup urine disease
```
394
```
Vitamin defic:
FTT
Photophobia
Blurred vision
Dermatitis
Mucositis
```
```
Vitamin b2 (riboflavin)
Assoc w/ glutaric aciduria type l
```
395
Vitamin defic assoc with glutaric aciduria type 1
B2 (riboflavin)
396
Vitamin defic associated with pyruvate dehydrogenase complex defic and maple syrup urine disease
B1 (thiamine)
397
```
Vitamin defic:
Dermatitis
Mucositis
Hypochromic anemia
Possible seizures
```
```
Vitamin b6 (pyridoxine)
Assoc with homocystinuria
```
398
Vitamin defic assoc with homocystinuna
B6 (pyridoxine)
399
Vitamin defic:
Anemia
Hypersegmented neutrophils
Vitamin b12 (cobalamin)
Assoc with mma and homocystinusia
Risk in breast fed infants of vegetarian mothers
400
Vitamin deficiency in vegetarian breast fed infants
B12
401
Vitamin deficiency in mma
B12
402
```
Vitamin defic:
Alopecia
Dermatitis
scaling
Seborrhea
```
Biotin
| Assoc with biotinidase defic, beta-methylcrotonyl glycinuria, proopionic acidemia, pyravate dehydrogenase complex defic
403
4 disorders assoc with biotin defic (alopecia, dermatitis, scaling, seborrhea)
Biotinidase defic
Beta-methylcrotonyl glycinuria
Propionic acidemia
Pyruvate dehydrogenase complex defic
404
Vitamin defic:
Poor wound healing
Bleeding gums
Vitamin C
| Assoc with transient tyrosinemia
405
Vitamin defic in transient tyrosinemia
Vitamin C
406
Vitamin defic:
Rickets
FTT
Possible tetany
Vitamin D
407
Vitamin defic:
Poor wt gain
Anemia
Infant fed goat's milk or evap milk
Folic acid
| Often coexists with fe defic
408
What vitamin should you give with fe to prevent iron-induced hemolysis
Vitamin E (alpha-tocopherol)
409
Trace element that regulates glucose levels due to role in insulin metabolism
Chromium
| Defic results in diabetes in animal models
410
Trace element critical for production of rbcs and hgb formation, impt for iron absorption, assoc with multiple enzyme activities
Copper
411
Defic in what trace element results in anemia, osteoporosis, depigmentation of hair and skin, neutropenia, poor wt gain, hypotonia with ataxia later in life
Copper
412
Where is fe absorbed
Duodenum and prox jejunum
413
What vitamin enhances fe absorption
Vitamin C
414
Trace element with role in enzyme (superoxide dismutase) activation, impt for normal bone structure, role in carbohydrate metabolism
Manganese
415
Trace element that is cofactor for glutamine peroxidase
Selenium
416
Deficiency of which trace element causes cardiomypathy
Selenium
417
Trace element that is important component of several enzymes (carbonic anhydrase, carboxypeptidase) , impt for growth
Zinc
| Acrodermatitis enteropathica - autosomal recessive disorder with abnormal zinc absorption or transport
418
```
FTT
Alopecia
Diarrhea
Dermatitis (perianal)
Ocular changes
Crusted erythematous rash involving face, extremities, anogenital areas
Nail hypoplasia or dysplasia
```
Acrodermatifis entcropathica
| Autosomal recessive disorder with abnormal zinc absorption or transport
419
When does fetal pth activity start
12 wks
420
Where is calcitonin secreted
Parafollicular c cells of thyroid
421
Calcitonin actions
Inhibits bone resorption
Enhances renal calcium excretion
Modulates prolactin secretion
422
Amount (%) of calcium and phos accrued in 3rd trimester
80%
423
When does most bone deposition occur?
- after 24 wks
424
Calcium delivery after 26wks
90-120 mg/kg/day
425
Phos delivery after 26 wks
60-75 mg/kg/day
426
Mg delivery after 26 wks
3-5 mg/kg/day
427
Peak accretion of ca and phos
36-38 wks
428
Relative level of calcitonin and pth in fetus
Calcitonin is high
Pth is low
Goal is to create bone
429
When does calcium nadir postnatally
24-48h
Allows for normal pth response at 48h
430
Actions of pth
Incr intestinal abs of ca
Incr calcium and phos resorbtion from bone
Incr calcium retention (decr urine calcium) by kidney
Decr phos retention (incr urine phos) by kidney
Pth will sacrifice phos and bone to increase scrum calcium
431
Calcium /albumin relationship
For every 1 g/dl decrease in albumin, total calcium decreases by 0.8 mg/dl
432
Goal calcium in parenteral nutrition
50-80 mg/kg/day
433
Which calcium formulation should you give in liver dysfunction (gluconate or chloride)?
Chloride -not metabolized by liver
434
Recommended phos amount in parenteral nutrition
39-93 mg/kg/day
In utero accretion is 60-75
435
Goal ca to phos ratio in parenteral nutrition
0.8-1.5:1
436
Goal for parenteral mg intake
5-7.5 mg/kglday
Enteral: 8-15 mglkglday because only 40% absorbed
437
Enteral calcium goal in preterm infant
120-220 mg/kg/day
438
Enteral phos goal in preterm infant
70-120 mg/kg/day
439
Enteral mg goal for preterm infant
8-15 mg/kg/day
440
Chromium toxicity
Renal problems
441
Copper toxicity
Hepatic problems
442
Manganese toxicity
Neuro problems
443
Selenium toxicity
Diarrhea and garlic breath (adults)
444
Zinc toxicity
Diarrhea and vomiting (adults)
445
What nutrients absorbed in ileum?
```
Vitamin C
Vitamin b12
Vitamin D
Vitamin k
Bile acids/salts
```
446
Single most impt risk factor for development of metabolic bone disease
Prematurity
447
Most common abnormality detected by routine fetal us
Hydronephrosis
448
Where does time uptake occur?
Duodenum and jejunum
449
Defect in acrodermatifis enteropathica
Zinc transporter protein ZIP4
Will see low alk phos levels (zinc-dependent enzyme)
Secondary infection w/staph or candida is common
450
Type 1 rta (distal)
```
Diminished acid secretion in distal tubule
Urine ph >6.5
Serum k low-normal
Hypercalciuria
Most severe
```
451
Type 2 rta (proximal)
Diminished bicarb resorption
Urine ph <6.5
Serum k low-normal
No hypercalciuria
452
Type 4 rta
Aldosterone deficiency or aldosterone resistance
Urine ph <6.5
Serum k high
No hypercalciuria
453
Most severe rta
Type 1 (distal)
Urine is alkalotic
K lost in urine as cation replacement for hydrogen
Tx is bicarb
454
Type 1 (distal) rta treatment
Bicarb
455
Treatment for type 2 (proximal) rta
Bicarb
456
At what gestational week does lactase reach adult concentration
36 weeks
| Other disaccharidases reach adult levels by 28w
457
How soon in gestation is pancreatic amylase present?
22w
| Adequate amount produced, but decr secretion at birth
458
Whey:casein in preterm formula
60:40
459
Whey: casein in colostrum
80:20
460
Whey: casein in mature bm
55:45
461
% Tbw , ecf %, icf % @24w, 32w, birth, and 3m
24w: 90%, 65%, 25%
32w: 83%, 53%, 30%
Birth: 80%, 45%, 35%
3m: 70%, 35%, 35%
462
Timing of pronephros formation
2-3 wks gestation
463
When do first glomeruli appear?
9 wks gestation
464
When is rephrogenesis complete?
34-36 wks gestation
465
When does fetal urine production begin?
10-12 wks gestation
466
What is approx urine production (ml/hr) at 20wks and term
20 wks- 5 ml/h
| Term- 50ml/h
467
How much cardiac output goes to neonatal kidney?
10%
468
What is higher in human milk vs cow's milk?
Long chain unsaturated fatty acids
Carnitine
Cholesterol
Dha
469
What is lower in human milk compared to cow's milk
Amino acids
470
What is higher in preterm vs term bm
- Protein
Sodium
Chloride
Long-chain polyunsatured fatty acids
471
What is lower in preterm vs term bm
Lactose
472
What % of calories should be provided by protein to maintain positive energy and nitrogen balance?
7-15%
| Minimum goal 2.5-3.5 g/kg/day in preterm, 2-2.5 in term
473
What accounts for greatest amt of energy expenditure in neonate
Resting metabolic rate (40-60 kcal/kg/day), followed by nutrition processing (excretion 15, storage 20-30, synthesis 15)
474
Where in the intestine are fat soluble vitamins absorbed?
Ileum
475
Where in the intestine is zinc absorbed?
Ileum
476
Where in the intestine are bile salts absorbed?
Ileum
477
Where in the intestine is b12 absorbed ?
Ileum
478
What does jejunum absorb?
```
Fe
Ca
Mg
Protein
Fat
Carbs
```
Ileum can compensate some
479
Physiology underlying poor growth in RTAs
Low serum ph inhibits growth hormone secretion
480
Max urine osm in preterm infant
500 mosm/l
481
Max urine osm of term infant
800 mosm/l
482
Max urine osm of adult/older child
1200 mosm/l
483
Fetal findings in congenital nephrotic syndrome
Sga
Large placenta
Elevated maternal serum or amniotic fluid afp
484
Genetics of congenital nephrotic syndrome, finnish type
Autosomal recessive
Mutation in nephrin (nphs1)
Can have impaired immune system and thrombosis due to protein losses in urine
485
Genetics of lowe syndrome
Xlr
Disorder affecting enzymatic function of golgi apparatus
Aka oculocerebrorenal syndrome
486
Cataracts, glaucoma
Hypotonia, areflexia, severe mental defic
Renal tubular dysfnc, proteinuria, aminoaciduria, possible congenital nephrotic syndrome
Cryptorchidism
Lowe syndrome, aka oculocerebrorenal syndrome
XLR
Defective enzyme activity In golgi
487
Diagnosis of lowe syndrome
Elevated maternal serum or amniotic afp
| Increased nucleotide pyrophosphatase in skin fibroblasts
488
Defect in bartter syndrome
Na, Cl, K transport defects in coop of henle
| Leads to dehydration and hypotension from salt wasting
489
Polyhydramnios
Triangular facies, protruding ears, large eyes with strabismus, drooping mouth
Hypotension and dehydration
Bartter syndrome
490
Electrolyte abnormalities in bartter syndrome
Hypokalemia
Hypochloremia
Metabolic alkalosis
Hypercalciuria
491
Renal agenesis is failure of what structure to develop?
Ureteric bud (forms from mesonephric duct)
492
Mcc of aki in the neonate
Hie
493
Free water deficit formula
4ml x wt x desired change in serum na
494
```
Scaly dermatitis
Alopecia
Thrombocytopenia
Incr risk infection
FTT
```
Essential fatty acid deficiency
495
Holman index
For essential fatty acid defic
Ratio of triene (mead acid) to tetraene (arachidonic acid)
>0.2 diagnostic of efad
496
Formula for plasma osm
2xna + glucose/18 + bun/2.8
497
Resting energy expenditure of elbw/vlbw preterm infant
50 kcal/kg/day
498
Fecal energy loss when enterally fed
10 kcal/keg/day
499
Caloric requirements for parenteral nutrition
80-100 kcal/kg/day
500
```
Microcephaly
Hypotonia
Epicanthic folds
Broad nasal tip
Micrognathia
Cleft palate
Low set ears
Syndactyly of 2nd and 3rd toes
Hypospadias
Hypoglycemia
Hypothermia
```
Smith-lemli-opitz
| Missing enzyme that converts 7-dehydrocholesterol to cholesterol
501
Intestinal length __________ in the last 15 wks of gestation
Doubles
502
Ga at which villi develop in small intestine
16 wks
503
Ga at which villi regress in large intestine
29 wks
504
Sucking is present in the fetus at what gest age
16 wks
505
How much amniotic fluid does the fetus swallow per day in 3rd trimester
450 ml/day
506
At what gest age does coordination of suck, swallow, and breathe begin
34 wks
507
Pathophys of duodenal atresia
Failure of recanalization of intestinal tube around 8-10 wga
508
Risk of pyloric stenosis if mom has it
19% if boy, 7% if girl
509
Risk of pyloric stenosis if dad had it
5.5% if boy, 2.4% if girl
510
Risk of pyloric stenosis if sibling had it
4% if boy, 2.4% if girl
511
Measurements diagnostic of pyloric stenosis
Length >15 mm
| Thickening >3 mm
512
Pathophys of jejunal/ileal atresia
Vascular accident
Accounts for 50% of atresias (more common than duodenal atresia)
513
At what gest age does cloaca divide into urogenital sinus and hindgut
6 wga
514
At what gest age do you have complete separation of anus, vagina, + urethra
12 wga
515
Defect in gilbert and crigler-najjar
Decreased activity of glucuronosyl transferase (decr conjugation)
Crigler-najjar is more severe
516
```
Ocular posterior embrytoxon
Congen heart disease
Renal anomalies
Vasc abnormalities
Neonatal cholestasis
Dysmorphic facies
Butterfly vertebrae
```
Alagille syndrome
517
Genetics of schwachman-diamond syndrome
Autosomal recessive
Mutation in sds gene - role in maturation of 60 s ribosomal subunit and ribosomal assembly
Chr 7q11
518
Neutropenia, anemia, tcp, or pancytopenia
Steatorrhea, FTT
Recurrent infections
Metaphyseal dystosis, thoracic dystrophies, low turnover osteopenia
Incr risk myelodysplastic syndromes, aml, aplastic anemia
Schwachman-diamond syndrome
| Mutation in sds , impt in ribosomal maturation and assembly
519
Most common hematologic abnorm in schwachman-diamond syndrome
Neutropenia
520
Mcc of abdominal flank mass in neonate
Hydronephrosis
521
Na deficit calculation
(Desired na - current na) x 0,6 x wt (kg)
522
Nitrogen balance equation
( Protein intake g/day x 0.16) - ( urinary urea concentration + est stool losses 4g)
523
Bicarb replacement formula
0.3 x bicarb deficit x weight (kg)
524
Hypertrophy and hyperplasia of renal juxtaglomerular apparatus
Incr renin, incr aldo, hypokalemic metabolic alkalosis, normal pth
Dehydration, FTT
Normal BP
Nephrocalcinosis
Normal serum ca, high urine ca
Bartter syndrome
Defect of chloride transport in ascending loop
Treat with k supp +/- thiazide +/- indomethacin
525
Defect in bartter syndrome and lab abnormalities
Defect in chloride transport in ascending loop
Incr renin, incr aldo, hypokalemic metabolic alkalosis
Normal pth , normal serum ca
High urine ca
526
```
Hepatomegaly
Glaucoma
brain anomalies
Chondrodystrophy
Cortical renal cysts
```
Cerebrohepatorenal syndrome
Aka zellweger syndrome
Autosomal recessive
527
Small thoracic cage with short ribs and abnormal costochondral junctions
Pulm hypoplasia
Cystic tubular dysplasia, glomerulosclerosis, hydronephnosis, horseshoe kidneys
Jeune syndrome aka thoracic asphyxiating dystrophy
| Autosomal recessive
528
```
Encephalocele
Microcephaly
Polydactyly
Cryptorchidism
Cardiac anomalies
Liver disease
Polycystic/dysplastic kidneys
```
Meckel-gruber syndrome
| Autosomal recessive
529
```
Fibrous angiomatous lesions
Hypopigmented macules
Intracranial calcifications
Seizures
Bone lesions
Polycystic kidneys, renal angiomyolipomata
```
Tuberous sclerosis
| Autosomal dominant
530
Hypoplastic nails
Hypoplastic or absent patella
Other bone anomalies
Proteinuria, rephritic syndrome
Nail- patella syndrome
Aka hereditary osteo-onychodysplasia
Autosomal dominant
531
Most common hemoglobinopathy
HgbE
532
Clotting factor defic assoc with noonan syndrome
Factor XI
| Aka hemophilia c
533
```
Hypopigmented and hyperpigmented skin lesions
Photosensitive malar rash
Mild craniofacial dysmorphisms
High-pitched voice
Congenital leukemia
```
Bloom syndrome
534
Congenital macrocytic hypoplastic anemia
Low bw
Short stature
Abnormal facies
Triphalangeal thumbs
Cardiac and renal involvement
Reticulocytopenia, normal to sl incr wbc and plt counts, bm with absent erythroid precursors
Incr epo, incr rbc adenosine deaminase levels, incr HgbF and I
Incr risk aplastic anemia, myelodysplastic syndrome,acute leukemia
```
Diamond-blackfan syndrome
Aka congenital erythroid aplasia
Autosomal dominant or recessive
Tx is chronic transfusions, steroids, bm transplant if unresp to steroids
1/3 will enter remission
```
535
```
Short stature
Bm failure with cytopenias
Radial hypoplasia, triphalangeal thumbs
Hyperpigmentation
Microcephaly
Mental defic
Strabismus
Malformed ears
Renal anomalies
Macrocytosis, incr Hb F and I Ag
Predisposition to aml, lymphoma
```
Fanconi syndrome
Aka constitutional aplastic anemia
Iner chromosome breaks with mitomycin c
Definitive tx is bm transplant, 50-75% respond to androgens and hematopoietic growth factors
536
Cardiac anomalies assoc with maternal diabetes
HCM
VSD
TGA
537
Fetal anomalies assoc with methimazole
Cutis aplasia
Choanal atresia
Esophageal atresia
TEF
538
```
Preterm with growth restriction
Neutropenia
Lactic acidosis
Dilated cardiomyopathy with w noncompaction
Club feet
Mildly elevated ck
```
Barth syndrome
X-linked recessive
Taz gene encoding tafazzin, catalyzes formation of mature cardiolipin in cell membrane
Diagnose with high 3 methylgutaconic on UOAs, gene analysis
539
Male
Neutropenia
Lv noncompaction
Barth syndrome
| X-linked recessive mitochondrial disorder, mutation in tafazzin
540
```
Early onset liver failure
Ecoli meningitis/sepsis
Speech problems (apraxia, dysarthria)
Cataracts
Premature ovarian insuffic
```
Galactosemia
Autosomal recessive
Mutation in galactose-1-phosphate-uridyl transferase (GALT)
NBS Can't defect after blood transfusion
Diagnose with high rbc galactose-l-phosphate and low rbc galt enzyme activity
541
Deficiency in pompe disease
Acid-alpha-glucosidase
| Aka GAA
542
```
Hypertrophic cardiomyopathy
Hypotonia
Muscle weakness
Feeding issues, ftt
Respiratory distress
Elevated ck
Short pr interval on ekg
```
```
Pompe disease
Aka glycogen storage disease II
Acid-alpha-glucosidase defic
Usu presents around 4 months
Diagnosis with low WBC GAA activity on NBS
Treat with enzyme replacement for life
```
543
Boiled cabbage smell
Tyrosinemia
544
Musky, mousy odor
Pku
545
Sweaty socks odor
Isovaleric acidemia
546
Rotting fish odor
Trimethylaminuria
547
Deficiency in tyrosinemia
Fumarylacetoacetate hydrolase
| Converts phenylpyruvate to fumarate and acetoacetate
548
Deficiency in pku
Phenylalanine hydroxylase
549
```
Seizures, coma, hypotonia or hypertonia
Hepatomegaly
Developmental delay
FTT
Lethargy
Renal dysfunction
Labs: metabolic acidosis, elevated pyruvate and lactate, ketonuria, hyperammonemia, +/- citrullinemia
```
Pyruvate carboxylase deficiency
Autosomal recessive mitochondrial disorder
Needs biotin supplementation
550
Supplement needed in pyruvate carboxylase deficiency
Biotin
551
Supplements useful in cystinuria
Methionine
| Dipenicillamine
552
Supplement useful in isovaleric acidemia
Glycine
553
Glycogen storage disease with lactic acidosis
Von gierke's disease
Aka GSD type I
Glucose-6-phosphatase defic
554
```
Lactic acidosis
Hypoglycemia
hepatomegaly
Neutropenia
Diarrhea
FTT
Incr infection risk
Liver failure with possible coagulopathy
```
Von gierke's disease
Aka GSD TYPE I
Glucose-6-phosphatase defic
Poor prognosis
555
Severe symmetric muscle weakness
Hypertrophic cardiomyopathy
No lactic acidosis
Pompe disease
Aka GSD TYPE II
Lysosomal-a-glucosidase defic
Poor prognosis with death usu before 1 year
556
Genetics of otc defic
X-linked recessive
| Females can be severely affected due to x-inactivation
557
```
Metabolic disorder with these lab finding:
Incr serum glutamine and alanine
Decr serum citrulline and arginine
Incr urine orotic acid
Hyperammonemia
Resp alkalosis
Normal glucose
```
Otc defic
| X-linked recessive
558
```
HSM
Cns deterioration
Cherry red macula
Clear cornea
Foam cells on bm biopsy
```
Niemann-pick disease type A
| Sphingomyelinase defic
559
Deficiency in niemann pick disease
Sphingomyelinase
560
Deficiency in gaucher disease
Glucocerebrosidase
561
Seizures at 4m
Hypotonia
Subtle facial dysmorphisms
Labs: normal sodium, potassium, and calcium. Anion gap metabolic acidosis. Elevated lactate and pyruvate
Global cerebral and cerebellar atrophy, absence of cc
Pyruvate dehydrogenase defic
Mitochondrial
Eval enzyme activity in wbcs or skin fibroblasts
Uniformly fatal, no tx
562
Inheritance of pyruvate dehydrogenase defic
Mitochondrial
563
Immune dysfnc
Alopecia
Skin rash
Neuro symptoms: sz, hypotonia, lethargy, ataxia, blindness, hearing loss
Biofinidase defic
| Autosomal recessive
564
Inheritance for biotinidase defic
AR
565
Inheritance of menkes disease
XLR
| Low ceruloplasmin and copper
566
Inheritance of non-ketotic hyperglycinemia
AR
| Defective cleavage of glycine to ammonia
567
Metabolic d/o assoc with hiccups
Non-ketotic hyperglycinemia
| AR
568
```
Lethargy
Hypo or hypertonia
Seizures
Resp failure
Hiccups
Eeg with burst suppression pattern that evolves to hypsarhythmia in 2nd month
Absent cc
Labs: elevated urine, blood, and csf glycine
```
Non-ketotic hyperglycinemia
AR
Poor prognosis, no tx
569
Ophtho: downward lens dislocation, glaucoma, myopia
Msk: osteoporosis, scoliosis, incr fracture tendency, tall stature, arachnodactyly, decr joint mobility
Cns: dev delay, cognitive impairment, seizures
Heme: thrombosis, incr bleeding risk
Usu asymptomatic as neonate
Homocystinuria
Autosomal recessive
Defect in converting homocysteine to methionine (b12-dependent) or homocysteine to cysteine(pyridoxine-dependent)
Supplement with pyridoxine, cysteine, and folate
Good prognosis
570
Inheritance of wilson disease
Autosomal recessive
571
Golden-brown pigmentation in cornea
Dysarthria and extrapyramidal movements
Liver disease
Wilson's disease
Autosomal recessive
Copper build-up in liver, cornea, basal ganglia, renal tubules
D-penicillamine to chelate copper
572
Deficiency in tay-sachs
Hexosaminidase A
573
Difference b/n niemann pick type a, tay sachs, and infantile gm1 (generalized gangliosidosis)
```
Niemann pick: hsm , foam cells in bm, presents in 1st month, sphingomyelinase defic
Tay sachs: no hsm, normal bm, presents slightly later (3-6m), hexosamindase a defic
Generalized gangliosidosis (intantile gm1): inclusions in wbcs in bm
```
All have cherry red spots and profound cns loss
574
Deficiency in generalized gangliosidosis (infantile GM1)
Galactosidase
| Cherry red spot, hsm, profound cns loss, WBC inclusions
575
Deficiency in metachromatic leukodystrophy
Arylsulfatase A
576
Deficiency in wolman disease
Acid lipase
577
Hepatomegaly
Profound cns loss
Adrenal calcification
Bm with wbc inclusions
Wolman disease
| Acid lipase defic
578
Metabolic disorders with positive urine reducing substances
Galactosemia
Hereditary fructose intolerance
Tyrosinemia
579
Preferred anti- thyroid med in 1st trimester
Ptu
580
Preferred antithyroid med after 1st trimester
Methimazole
581
Fetal effects of 1st trimesterexposure to methimazole
Cutis aplasia
Choonal atresia
GI defects
582
Fetal effects of 1st trimester exposure to ptu
Preauricular sinus/fistula
Urinary tract anomalies
Low bw
583
Preferred 1st line agent for neonatal hyper thyroidism
Methimazole
inhibits thyroid peroxidase
Ptu has potential for liver failure
584
Embryonic tissue origin of thyroid? Adrenal? Pituitary?
Thyroid-endoderm
Adrenal cortex-mesoderm
Advenal medulla- neural crest (neuroectoderm)
Pituitary-ectoderm
585
Metabolic disorder with alopecia
Biotinidase deficiency
586
Metabolic disorders with brittle hair (3)
```
Menkes
Arginosuccinlyase defic (urea cycle)
Arginosuccinic acid sythetase defic (urea cycle)
```
587
Metabolic disorders with cataracts (3)
Galactosemia
Galactokinase defic
Mevalonic aciduria
588
Metabolic disorders with hydrops (3)
Glucose-6-phosphate dehydrogenase defic
Lysosomal storage disease
Glycogen storage disease type IV
589
Metabolic disorders with sweaty feet odor (2)
Isovaleric aciduria
| Glutaric aciduria type ii
590
Metabolic disorder with thromboemboli
Homocystinuria
591
Formula for volume of distribution
V d= dose/peak conc
| Vd= dose needed to raise conc/(c2-c1)
592
Half life calculation
T 1/2= 0.693/Kel
| T 1/2=0.693 * Vd/clearance
593
Elimination constant calculation
Kel=ln(Cmax/Cmin)/ time between levels
| Kel=clearance/Vd
594
Drug clearance calculation
Cl=(dose/interval)/[drug]ss
| Cl=Kel x Vd
595
Cohort vs case control study
Cohort is prospective, start w/ exposure and follow for outcomes
Case control is retrospective, start w/ outcome of interest and look back at prior exposures
596
Antibiotic class that inhibits bacterial enzymes (penicillin binding proteins) necessary for synthesis of peptidoglycan in cell wall
Penicillins
597
Antibiotic class that binds to pcn-binding proteins and inhibits cell wall synthesis
Cephalosporins
598
Antibiotic class that binds to 30s subunit of bacterial ribosomes and inhibits protein synthesis
Aminoglycosides
599
Antibiotic that inhibits peptidoglycan synthesis in all wall
Vancomycin
600
Antibiotic that binds reversible to 50s subunit of bacterial ribosomes and inhibits protein synthesis
Erythromycin
| Bacteriostatic
601
PPI with least inhibitory effect on cytochrome p450
Pantoprazole
602
Inducers of cytochrome p450 (4)
Dexamethasone
Phenobarbital
Phenytoin
Rifampin
603
Rapid cholestatic hepatitis
FTT
Pruritis
Normal GGT
Progressive familial intrahepatic cholestasis type 1 or 2
Autosomal recessive
Type 3 presents in adolescence
604
Acute fatty liver of pregnancy is assoc with what disorder in the fetus?
LCHAD
Due to toxic metabolites
3-hydroxyacyl CoA dehydrogenase deficiency
605
Hypoketotic hypoglycemia
Hyperammonemia
Anion gap metabolic acidosis
Fatty acid oxidation defects
606
```
Seizures
Hypotonia
Polycystic kidneys
Hepatomegaly
Cataracts
```
Hepatocerebronenal syndrome
Zellweger syndrome
| Decreased paroxysmal function = limited oxidation of long chain FA
607
Hypoketotic hypoglycemia
Metabolic acidosis
Hyperammonemia
Enlarged cystic kidneys, hepatomegaly, cardiomegaly
High forehead, flat nasalbridge, malformed ears
Smell like sweaty feet
Glutaric acidemia type 2
Autosomal recessive
Defect in electron transport chain enzymes
608
Syndrome with posterior embryotoxin
Alagille
609
```
Microcephalic
Cleft palate
Downslanting palpebral fissures
Sga
Anteverted nares
2-3 toe syndactyly
Hypospadias
Mild hypotonia
```
Smith lemli opitz
610
```
Deep creases in palms and soles
Camptodactyly
Thick lips
Cupped ears
Micrognathia
Bilateral hip dislocation
Hydronephrosis
```
Trisomy 8
