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Royal Super 4th Year Brain > Metabolics/Genetics > Flashcards

Metabolics/Genetics Flashcards

1
Q

Classic presentation for galactosemia

A
  • Jaundice, hepatomegaly
  • FTT, poor feeding, emesis
  • Sepsis (E. coli)
  • Cataracts
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2
Q

Inheritance pattern for Marfan Syndrome

A

Autosomal dominant

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3
Q

Features of Noonan Syndrome

A
  1. Dysmorphic features = low posterior hairline, wide philtrum, hypertelorism, down slanting palpebral fissures, short nose with bulbous tip, cubitus valgus, nuchal skin fold, wide bi-temporal distance
  2. Cardiac = R sided lesions (PV stenosis, double outlet RV, HCM), lymphedema
  3. CNS = seizures, chiari I malformation, mild ID, eye issues
  4. Other = endo (short stature, hypothyroidism), MSK (scoliosis, club foot, pectus abnormality), GU (renal anomalies), heme (thrombocytopenia), onc (JMML)
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4
Q

Williams Syndrome - cardiac manifestations

A

Supravalvular AS + PS
Pulmonary valve stenosis
Hypertension

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5
Q

Sturge-Weber Syndrome - derm manifestations

A

Port wine stain V1/V2

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6
Q

What genetic syndrome do you think for hemihypertrophy?

A

BW

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7
Q

What neoplasm to look for for BW?

A

Hepatoblastoma

Wilm’s tumor

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8
Q

What oncology screening for BW?

A

Abdo US q3m
AFP q3m
Until age 8

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9
Q

Electrolyte disturbance in CAH?

A

Hypoglycaemia
Hyponatremia
Hyperkalemia

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10
Q

What neuro complication in achondroplasia?

A

Risk of foremen magnum narrowing/stenosis that can lead to hydrocephalus and OSA

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11
Q

SMA - genetic inheritance

A

Autosomal recessive

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12
Q

5 BM failure congenital syndromes

A 
Fanconi anemia
Schwachmann Diamond
Dyskeratosis congenita 
Pearson syndromes
Congenital amegakaryocytic thrombocytopenia
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13
Q

What BM failure syndrome is associated with VACTERL?

A

Fanconi anemia

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14
Q

What BM syndrome is associated with hair/skin findings?

A

Dyskeratosis congenita

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15
Q

Non-ketotic hypoglycaemia (x3 causes)

A

GDM/SGA/prep
Insulin mediated = hyperinsulinemia
Lipid disorders = beta oxidation, carnitine

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16
Q

VLCAD complications (x2)

A

Rhabo

Cardiomyopathy

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17
Q

Hemophilia A inheritance pattern

A

X-linked recessive

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18
Q

Most common chromosomal abnormality involved spontaneous first trimester miscarriages?

A

Trisomy 16

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19
Q

Turner Syndrome - karyotype

A

45 XO

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20
Q

Turner Syndrome - clinical presentation

A
  • Dysmorphic ftrs: Low posterior hairline, cubitus valgus, nuchal skin fold, abnormal ears, shield chest with wide-spaced nipples, short 4th metacarpal, hyperconvex nails
  • CVS: BAV, coarct, AS, HTN, lymphedema
  • CNS: IQ normal, SNHL + CHL hearing loss, strabismus
  • Endo: met syndrome, hypothyroid, short stature
  • MSK/derm: pigment nevi, scoliosis, DDH, cystic hygroma
  • Onc: neuroblastoma, gonadoblastoma
  • Gyne: Ovarian failure
  • GU: renal anomalies (horseshoe kidney, solitary kidney)
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21
Q

Friedrich Ataxia - inheritance pattern, pathophys of chromosomal abnormality, and x3 classical clinical features

A
  • Auto recessive
  • Chromo 9q13 = frataxin protein –> deficiency leads to accumulation of iron in mitochrondria = oxidative stress
  • Features: ataxic gait, extensor plantar responses, loss of DTRs
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22
Q

Most likely finding on blood gas for urea cycle defect

A

Respiratory alkalosis

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23
Q

x3 top findings on labs for urea cycle defect

A
  • resp alkalosis
  • hyperammonemia
  • little/no urea
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24
Q

Inheritance pattern for OTC deficiency

A

X-linked recessive

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25
Q

What IEM presents with more significant ketosis?

A

Organic acidemias

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26
Q

Important severe, complications from organic acidemias?

A

Strokes, myocarditis, pancreatitis

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27
Q

IEM cause for subdural hematoma and on ddx for maltreatment

A

Glutaric acidemia

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28
Q

IEM diagnosis on ddx for Marfan Syndrome

A

Homocysteinuria

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29
Q

x2 dx to think of for neonates with ketonuria

A

Organic acidemias and maple syrup urine disease

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30
Q

IEM presenting with liver failure, conjugated hyperbili, and RTA (type II)

A

Tyrosinemia

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31
Q

IEM with neutropenia

A

GSD 1

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32
Q

IEM to think of for rhabdo out of in keeping of mechanism

A

GSD-5 = McArdle

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33
Q

When can you get a false positive galactosemia screen?

A

G6PD

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34
Q

Medical based reason for soy based formula (x1)

A

Galactosemia

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35
Q

FAOD labs (x2)

A
  • Hepatitis

- Non-ketotic hypoglycemia

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36
Q

Peroxismal disorder presenting in neonates

A

Zellweger

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37
Q

What is the dx that has developmental regression (starting within school aged), new spasticity, and adrenal failure?

A

Adrenoleukodystrophy

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38
Q

MELAS - what does that stand for?

A

Mitochondrial encephalomyopathy lactic acidosis, stroke like episodes

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39
Q

Sturge Weber - inheritance

A

Sporadic

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40
Q

Sturge Weber - derm and classic CNS sign

A
  • Angioma involving leptomeninges - vascular lesion, tram track sign
  • V1 and V2 port wine stain
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41
Q

Lesch Nyhan Syndrome - inheritance

A

X linked recessive

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42
Q

IEM with gout, kidney stones, dev delay, self injurious behav

A

Lesch Nyhan Syndrome

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43
Q

What x2 genotypes has the worst disease for alpha 1 antitrypsin?

A

SZ and ZZ

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44
Q

Incontinentia pigmenti - inheritance, derm manifestation, dental

A
  • X linked dominant (males die in utero)
  • Stages: 1 vesicles (linear/whorls), 2 ketatotic plaques, 3 hypopigmentation, 4 hyperpigmentation
  • Peg teeth
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45
Q

What tumor is classic for Denys-Drash?

A

Wilm’s tumor

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46
Q

Triad of Denys Drasch

A

Nephropathy, ambiguous genitalia, Wilm’s tumor

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47
Q

IEM presenting with learning disabilities and behaviour problems that is often dx with ADHD

A

X linked leukodystrophy

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48
Q

Sacral agenesis - associated with?

A

IDM

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49
Q

Trinucleotide repeat disorders (4)

A

Fragile X, myotonic dystrophy, spinocerebellar ataxia, Huntington’s disease

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50
Q

PHACE Syndrome/association

A
  • Posterior fossa abnormalities - dandy walker malformation
  • hemangioma
  • arterial/aortic abnormality
  • cardiac
  • eye abnormality
  • sternal abnormalities
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51
Q

Supravalvular aortic stenosis

A

William Syndrome

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52
Q

CATCH-22

A

For DiGeorge Syndrome:

  • Cardiac
  • AbN facies
  • Thymic hypoplasia
  • Cleft lip+palate
  • HypoCa
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53
Q

Inheritance pattern for DiGeorge

A

Autosomal dominant

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54
Q

What is the most common genetic condition associated with cutis aplasia?

A

T13

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55
Q

What is a clue on ECG for T21 that suggests AVSD?

A

Left axis deviation

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56
Q

What cardiac lesions are Turner syndrome patients at risk for?

A

Coarctation, BAV, long QTc

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57
Q

X2 heart lesions in Williams Syndrome

A

Supravalvular aortic stenosis

Pulmonary artery stenosis

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58
Q

Electrolyte abnormality in Williams Syndrome

A

HyperCa

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59
Q

What eye finding in Williams Syndrome?

A

Starburst eye pattern

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60
Q

What syndrome has aniridia?

A

WAGR

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61
Q

X3 syndromes with Persistent peripheral pulmonary stenosis

A

Alagille syndrome, noonan, William

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62
Q

When should PPS murmur go away?

A

3-6 months

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63
Q

What does Rhizomelic mean?

A

Proximal aspect of extremity is shorter - example femur

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64
Q

Why should we do a CT or MRI around 12 months of age for achondroplasia?

A

Narrowing of the foremen magnum

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65
Q

Differences in homocysteinuria compared to Marfan syndrome?

A

Higher risk of clotting and decreased cognition

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66
Q

Main cardiac abnormality for Noonan Syndrome

A

Pulmonary stenosis

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67
Q

What type of leukaemia for neurofibromatosis type 1?

A

Juvenile myelomonocytic leukaemia

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68
Q

Optho finding in Sturge Weber

A

Glaucoma

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69
Q

What MRI finding for children with Sturge Weber?

A

Ipsilateral leptomeningeal angioma

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70
Q

What neuro manifestation do you worry about for tuberous sclerosis?

A

Infantile spasms

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71
Q

What first line med for infantile spasm in tuberous sclerosis?

A

Vigabatrin

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72
Q

Cardiac rhabdomyosarcoma - what syndrome?

A

Tuberous sclerosis

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73
Q

Ectodermal dysplasia - dental finding

A

Conal dentition

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74
Q

Rett Syndrome - 3 clinical features

A

Writhing hands, dev regression, seizures

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75
Q

Inheritance for Rett Syndrome

A

MECP2 - X linked dominant

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76
Q

What syndrome is good at puzzles?

A

Prader Willi

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77
Q

Onc things to monitor for BW Syndrome?

A

Hepatoblastoma, Wilm’s tumor

78
Q

Facial asymmetry - syndrome?

A

Goldenhar syndrome

79
Q

Diagnosis of Cystic Fibrosis

A
  • 1 or more typical features, OR history of CF in sibling, OR abnormal NMS
  • PLUS lab evidence: +sweat Cl, x2 known disease causing mutations, abnormal nasal potential difference measurements
80
Q

What syndrome is most likely with seizure disorder, ataxia, absent speech, and microcephaly?

A

Angelman Syndrome

81
Q

What is the mother at risk for when carrying a baby with DMD?

A

Cardiomyopathy

82
Q

Inheritance pattern for DMD

A

X-linked recessive

83
Q

x2 confirmatory tests for DMD

A
  • Muscle biopsy - absent dystrophin, muscle atrophy

- Genetics - dystrophin gene

84
Q

What mode of inheritance is characterized by male to male transmission?

A

Autosomal dominant

85
Q

What mode of inheritance is characterized by female only transmission?

A

X-linked recessive

86
Q

What mode of inheritance is characterized by a horizontal appearance of disease phenotype?

A

Autosomal recessive

87
Q

What x2 syndromes are associated with Pierre Robin sequence?

A
  • 22q11

- Stickler Syndrome

88
Q

What syndrome are brushfield spots found in?

89
Q

T21 - facial features?

A
  • Brachycephaly/microcephaly
  • Up slanting palpebral fissures
  • Epicanthal folds
  • Low set ears
  • Hearing loss, recurrent AOM
  • Flat nasal bridge
90
Q

T21 - MSK features?

A
  • Single palmar crease
  • Short 5th digit with clindodactyly
  • Short neck with redundant skin
  • Wide gap between first two toes
  • Hip dysplasia
  • Dislocations
  • Atlantoaxial instability
91
Q

T21 - GI features?

A
  • Hirschsprung
  • Celiac disease
  • Duodenal atresia
  • TEF
  • Imperforate anus
92
Q

Prenatal screen lab findings for T21

A
  • High hCG

- Low AFP

93
Q

Clinical features of T18

A
  • Rockerbottom feet
  • Overlapping fingers
  • Clenched fist
  • IUGR, microcephaly
  • Micrognathia
  • Cleft lip/palate
  • Hypertonia
  • CVS: VSD
94
Q

Clinical features of T13

A
  • Midline defect
  • Aplasia cutis congenital
  • Microphthalmia, microcephaly
  • Hypotonia
  • Postaxial polydactyly
  • CVS: PDA
95
Q

What syndrome will you see a stellate iris?

A

William Syndrome

96
Q

Clinical features of William’s Syndrome

A
  • Long philtrum (Elfin facies)
  • Broad mouth
  • Short nose with bulbous tip
  • Cocktail personality, anxiety
  • Developmental delay
  • Joint laxity
97
Q

Classic facial feature of Wolf-Hirschhorn Syndrome?

A

Greek helmet face

98
Q

BW syndrome malignancies x2

A

Hepatoblastoma

Wilms tumor

99
Q

Triad of BW Syndrome

A
  • Omphalocele
  • Macroglossia
  • Hypoglycemia
100
Q

Ear findings in BW Syndrome

A
  • Ear lobe creases

- Posterior auricular pits

101
Q

Fragile X - genital feature for F and M

A
  • F = premature ovarian failure

- M = macroorchidism

102
Q

CVS finding of Fragile X

A

-MV prolpase

103
Q

Fragile X - what is the trinucleotide repeat?

104
Q

x2 CVS findings in Turner’s

A
  • BAV

- Coarctation

105
Q

Clinical features of Turner’s Syndrome

A
  • Short stature
  • Lymphedema
  • Shield chest
  • Cubitus valgus
  • Low posterior hairline
  • Posteriorly rotated ears
  • Webbed neck
  • Short 4th metacarpal bone
  • Ovarian dysgenesis
  • Horseshoe kidney
  • Autoimmune/endo disorders
106
Q

Differentiating clinical features for Turner vs Noonan Syndrome?

A

-Noonan: down slanting palpebral fissures, intellectual disability, pulmonary stenosis (vs BAV/coarct), normal karyotype

107
Q

What is the most common cause of primary hypogonadism + infertility in males?

A

Klinefelter Syndrome

108
Q

Karyotype for Klinefelter

109
Q

Clinical features for Klinefelter

A
  • Gynecomastia
  • Tall stature
  • Small testes, micropenis
  • Infertility
  • Intellectual disability, behavioural problems
110
Q

Most effective therapy for Klinefelter Syndrome

A

Testosterone replacement therapy

111
Q

What x2 malignancies is Klinefelter at risk for?

A

Breast + testicular cancer

112
Q

Clinical features of Angelman Syndrome

A
  • Jerky ataxic movements (happy puppet)
  • Inappropriate bouts of laughter
  • Excitable with hand flapping
  • Hypotonia
  • Seizure
  • Microcephaly
  • Small/separated teeth
  • Fair hair
  • Severe intellectual disabilities
  • Speech delay
113
Q

Mode of inheritance for Angelman Syndrome

A

-Maternal UPD

114
Q

What syndrome has almond-shaped eyes?

A

Prader Willi Syndrome

115
Q

Clinical features of Prader Willi Syndrome?

A
  • Infancy: hypotonia, FTT, feeding problems
  • Hyperphagia, central obesity, short stature
  • Hypogonadism
  • Mild ID, behaviour disorder
  • Almond-shaped eyes
116
Q

Mode of inheritance for Prader Willi Syndrome

A

Paternal UPD

117
Q

Classic finding of Alagille Syndrome

A

-Paucity of bile ducts

118
Q

Syndrome with nephrogenic DI

A

Bardet-Biedl

119
Q

Syndrome with LGA, excessive growth during first year of life, large head with frontal prominence, premature tooth eruption, and ventriculomegaly?

A

Sotos Syndrome

120
Q

Syndrome with trident hands?

A

Achondroplasia

121
Q

Syndrome with ice cream cone shaped femoral head?

A

Achondroplasia

122
Q

x2 lab findings in OI

A

High ALP + hyperCa

123
Q

Cardiac defect in Marfan Syndrome

A
  • Mitral valve prolapse

- Aortic root dilatation

124
Q

Major criteria for Marfan Syndrome

A
  • Ectopia lentis
  • Aortic dilation/dissection
  • Family history
125
Q

Clinical features of Treacher Collins Syndrome?

A
  • Zygomatic/mandibular bone hypoplasia
  • Eyelid colobomas
  • Microretrognathia
  • Choanal atresia
  • Microtia
  • Conductive hearing loss
  • Cleft lip + palate
126
Q

Syndrome with facial asymmetry, ear abnormalities, vertebral anomalies, and pathagnomnic limbal dermoid?

A

Goldenhar Syndrome

127
Q

What clinical features are included in the Pierre Robin sequence?

A
  • Mandibular hypoplasia
  • Micrognathia
  • Glossoptosis
  • U shaped cleft palate
  • Upper airway obstruction
128
Q

What syndrome has a white forelock, heterochromia, and skin depigmentation?

A

Waardenburg Syndrome

129
Q

What GI association is there is Waardenburg Syndrome?

A

Hirschsprung disease

130
Q

Facial features of Cornelia de Lange?

A
  • Long eyelashes
  • Bushing/arched eyebrows
  • Hirsutism
  • Low hairline
  • Down-ward turned mouth
  • Thin upper lip
131
Q

What are children with NF1 at risk for?

A

Malignancies

132
Q

Diagnostic criteria for NF-1

A
  • At least 2 of the following:
  • At least 6 CALM (>5mm pre-pubertal; >15mm post-pubertal)
  • At least 2 neurofibromas or 1 plexiform neurofibroma
  • Axillary/inguinal freckling
  • Optic glioma
  • At least 2 Lisch nodules (iris hamartoma)
  • Distinctive bony lesion: sphenoid dysplasia, tibial pseudoarthrosis, or cortical thickening of the long bone
  • First degree relative with NF-1
133
Q

Diagnostic criteria for NF-2

A
  • 1 of the following:
  • Bilateral vestibular schwannomas
  • Unilateral vestibular schwannoma + first degree relative
  • Unilateral vestibular schawannoma OR first degree relative AND any 2 of: meningioma, non-vestibular schwannoma, ependymoma, cataract
134
Q

What is the most common neurological complication in Tuberous Sclerosis?

A

-Infantile spasms

135
Q

Diagnostic criteria for Tuberous Sclerosis

A
  • MAJOR*
  • At least 3 hypomelanotic spots (ash leaf)
  • At least 3 angiofibromas
  • At least 2 ungual fibromas
  • Shagreen patch
  • Cortical dysplasia
  • Subependymal nodules
  • Subependymal giant cell astrocytoma
  • Cardiac rhabdomyoma
  • Lymhangioleiomyomatosis
  • Angiomyolipomas
  • MINOR*
  • Confetti skin lesions
  • Dental enamel pits
  • Intra-oral fibromas
  • Multiple renal cysts
  • Non-renal hamartomas

*Need 2 major OR 1 major/2 minor

136
Q

Classic triad for McCune-Albright Syndrome

A
  • Precocious puberty
  • CALM
  • Polyostotic fibrous dysplasia
137
Q

Most common presenting sign for precocious puberty in McCune-Albright?

A

-Vaginal bleeding

138
Q

Most common endo association with McCune-Albright Syndrome?

A

Hyperthyroidism

139
Q

Major criteria for CHARGE Syndrome (x4)

A
  • Ocular colobomas
  • Choanal atresia
  • CN dysfunction
  • Ear anomalies
140
Q

What syndrome to think about if there is a single umbilical artery?

A

VACTERL association

141
Q

Clinical features of VACTERL association

A
  • Vertebral defect
  • Anal atresia
  • CHD (VSD)
  • TEF
  • Esophageal atresia
  • Renal anomalies
  • Limb hypoplasia
142
Q

Three categories of protein disorders

A
  • Amino acid disorders
  • Organic acid disorders
  • Urea cycle disorders
143
Q

Typical presentation for PKU

A
  • No acute signs/symptoms

- Gradual progression of developmental delay resulting in irreversible profound delays

144
Q

Main method of management for PKU patients

A

Dietary restriction of phenylalanine

145
Q

Classic presentation of amino acid disorders

A
  • Acute sepsis-like decompensation, liver failure, and/or chronic neurological injury
  • Acute symptoms typically occur in a catabolic state that predisposes to protein breakdown (e.g., infection, puberty, procedures)
146
Q

Typical presentation of organic acid disorders in infancy (including symptoms + their cause)

A
  • Feeding intolerance, emesis
  • Lethargy
  • Non-specific, sepsis-like presentation
  • Progression to coma
  • Toxin accumulation = metabolic acidosis + hyperammonemia
  • Substrate deficiency = production of ketones/lactic acid
147
Q

Acute + chronic management of organic acid disorders

A
  • Acute: stop protein, provide calories, reduce ammonia, IV carnitine
  • Chronic: protein restriction + carnitine
148
Q

What is the role of carnitine in organic acid disorders?

A
  • Binds to organic acid + helps to facilitate their excretion
  • Leads to carnitine deficiency
149
Q

What acid-base disturbance do organic acid disorders vs urea cycle disorders?

A
  • Organic acid: metabolic acidosis (secondary to build up of acids)
  • UCD: respiratory alkalosis (secondary to high ammonia)
150
Q

Typical presentation of urea cycle disorders

A
  • Feeding intolerance, emesis
  • Lethargy
  • Non-specific, sepsis-like presentation
  • Progression to coma
151
Q

Acute + chronic management of urea cycle disorders

A
  • Acute: decrease ammonia, stop protein, give calories

- Chronic: restrict protein

152
Q

When do FAOD typically present?

A
  • Once body starts to rely on fats for energy or prolonged fasting
  • Neonates = >3-4 hours
  • Adults = >10-12 hours
153
Q

Classic 3 presentations for FAOD (not necessarily at diagnosis)

A
  • Hypoglycemia
  • Cardiomyopathy/arrhythmia
  • Rhabdo
154
Q

Acute + chronic management for FAOD

A
  • Acute: stop dietary LC fat intake, given calories (dextrose)
  • Chronic: LCHAD + VLCAD (fat restriction, avoidance of fasting), MCAD (avoidance of fasting)
155
Q

Three categories of carbohydrate metabolism disorders (including main source of that particular sugar + main examples of disorders)

A
  • Galactose (main source: lactose) = galactosemia
  • Fructose (main source: sucrose) = hereditary fructose intolerance
  • Glucose = glycogen storage disorders, gluconeogenic disorders
156
Q

What IEM to think about if hypoglycemia + hepatomegaly?

157
Q

Typical presentation of galactosemia

A
  • Typically in the first 10 days of life with jaundice + feeding intolerance
  • Progression to conjugated hyperbili, coagulopathy, liver failure
158
Q

x4 long term complications of galactosemia

A
  • Cataracts
  • Speech apraxia
  • Ataxia
  • Premature ovarian failure
159
Q

Management of galactosemia

A

Remove dairy products

160
Q

Main x2 clinical findings to think about in GSD

A

Hypoglycemia + hepatomegaly

161
Q

Management of hyperammonemia

A
  • Stop protein intake
  • Promote anabolism with D10W with Na/K at 1.5x maintenance, IV lipids
  • Remove ammonia
  • Provide deficient subtrates
162
Q

What are the two main IEM to think about with hyperammonemia and how to differentiate them?

A
  • Organic acid disorders = metabolic acidosis

- Urea cycle disorders = respiratory alkalosis

163
Q

What IEM would be revealed when testing plasma amino acids?

A
  • Amino acid disorders

- Urea cycle disorders

164
Q

What IEM would be revealed when testing urine organic acids?

A
  • Organic acid disorders

- FAOD

165
Q

What IEM would be revealed when testing plasma acylcarnitine?

A
  • Organic acid disorders

- FAOD

166
Q

What will the results of uric acid and triglycerides be in GSD?

A
  • Hyperuricemia

- Hypertriglyceridemia

167
Q

Acute + chronic management for GSD

A
  • Acute: PO/IV glucose

- Chronic: Avoid fasting, cornstarch

168
Q

What IEM is at risk for liver adenomas?

169
Q

What systems are typically involved in mitochondrial disease?

A

Brain, eyes, heart, muscle + endocrine

170
Q

What is MELAS?

A

Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes

171
Q

Classic three features of lysosomal storage disorders?

A
  • Coarse facial features
  • Hepatosplenomegaly
  • Hypertrophic cardiomyopathy
172
Q

What eye finding is classic for lysosomal storage diseases?

A

Cherry red spot

173
Q

36 month old boy with developmental delay, gout, kidney stones, self mutilation with head banging and finger biting. Inheritance pattern?

A

X-linked recessive = Lesch-Nyhan Syndrome

174
Q

When to do cervical XR’s for child with T21?

A
  • No routine screening

- Done when clinical concerns for atlantooccipital instability

175
Q

What is (a) the normal and (b) the most severe phenotypes for alpha-1 antitrypsin?

A

(a) MM is the normal phenotype
- MS, SS and MZ are associated with mild to moderate deficiency
(b) ZZ and SZ are associated with severe deficiency

176
Q

Inheritance pattern for incontinentia pigmenti?

A

X-linked dominant (lethal in boys)

177
Q

x2 trinucleotide repeat disorders

A
  • Fragile X

- Myotonic dystrophy

178
Q

Inheritance pattern for VACTERL

A

Multifactorial

179
Q

Inheritance pattern for SMA

A

Autosomal recessive

180
Q

Congenital inherited bone marrow failure syndromes - x5

A 
Fanconi Anemia
Schwachman-Diamond syndrome
Dyskeratosis congenita
Pearson syndrome
Congenital Amegakaryocytic thrombocytopenia
181
Q

x4 classic findings for Schwachman-Diamond Syndrome

A
  • Steatorrhea
  • FTT
  • Skeletal abnormalities
  • Hepatomegaly
182
Q

What syndrome/association is choanal atresia most closely associated with?

183
Q

What eye finding is most likely associated with choanal atresia?

A

Coloboma = key hole pupil

184
Q

What does CHARGE stand for>

A
  • Coloboma
  • Heart
  • Atresia (of nose)
  • Retardation of growth/development
  • GU/genital abnormalities
  • Ear abnormalities
185
Q

What syndrome is associated with abnormality with the PHOX2 gene?

A

Congenital hypoventilation Syndrome

186
Q

In addition to respiratory complications, what other group of symptoms will children with congenital hypoventilation syndrome have?

A

Autonomic dysfunction

187
Q

What test should we do annually for children with congenital hypoventilation syndrome?

A

Holter - at risk for cardiac asystole

188
Q

x2 other associations with congenital hypoventilation syndrome?

A
  • Neural crest cell tumors (neuroblastoma)

- Hirschsprung’s

189
Q

Dysmorphic child with pedal edema, webbed neck, hypertrophic cardiomyopathy

A

Noonan’s syndrome

190
Q

Criteria for NF1

A

• At least 2 of:
○ 6 or more of café-au-lait macules > 5mm in prepubertal and >15mm in postpubertal
○ 2 or more neurofibromas of any type or one plexiform
○ Freckling in the axillary or inguinal regions
○ Optic glioma
○ 2 or more Lisch nodules
○ Distinctive bony lesion
First degree relative with NF1

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