Syndromes Flashcards
1
Q
Cardiac defect commonly seen in Noonan Syndrome
A
Pulmonary valve stenosis
2
Q
Cardiac defect commonly seen in Turner Syndrome
A
Coarctation of aorta or Bicuspid aortic valve
3
Q
Inheritance for Marfan Syndrom
A
Autosomal dominant
4
Q
Ophthalmologic manifestations in Marfan Syndrome
A
Ectopia lentis - upward and temporal displacement of lens of eye
5
Q
Clinical differences between Homocystinuria and Marfan Syndrome
A
Lens displaced downwards
Mental retardation
Thrombosis
6
Q
Klinefelter Syndrome: Karyotype
A
47 XXY
7
Q
Male Small testes Socially awkward but normal intelligence Delayed speech Mild motor delay Disease?
A
Klinefelter Syndrome
8
Q
Neonatal hypotonia Failure to thrive as infant but now has obesity Mild Intellectual disability Small testicles Small hands and feet Disease?
A
Prader-Willi Syndrome
9
Q
Fair hair Ataxia and abnormal jerky movements Frequent laughter and easy excitability Seizures Severe developmental delay Disease?
A
Angelman Syndrome
Happy puppet
10
Q
Gene affecting Prader-Willi and Angelman Syndrome
A
15q11-13
11
Q
Macrosomia & macroglossia
Hemihypertrophy
Omphaocele
Disease:
A
Beckwith Wiedemann Syndrome
12
Q
Electrolyte abnormality associated with Williams Syndrome
A
Hypercalcemia
13
Q
VACTER-L Syndrome
A
Vertebral defects Anal atresia Cardiac defects TE fistula Radial hypoplasia and Renal abnormalities
Limb abnormalities
14
Q
Syndrome with broad thumbs + cryptoorchidism
A
Rubinstein-Taybi (Thumby) Syndrome
15
Q
Syndrome with triangular face, hemihypertrophy and growth retardation
A
Russell Silver Syndrome
16
Q
Facial deformity Small lower jaw Conductive hearing loss Normal intelligence Disease?
A
Treacher Collins Syndrome
17
Q
Inheritance of Treacher Collins
A
Autosominal dominant
18
Q
Cause of sudden death in achondroplasia
A
Cervicomedullary junction compression
19
Q
Cause of Fragile X Syndrome
A
Repeat of CGG trinucleotide on X chromosome
20
Q
Most common single gene cause of Autism Spectrum Disorder
A
Fragile X
21
Q
Male Mild intellectual disability Long narrow face, prominent forehead, portruding ears Macroorchidism Disease?
A
Fragile X
Think Prince Charles
22
Q
Females only Autistic-like behavior Wringing hands Episodic apnea and hyperpnea Regression of developmental milestones at 1-2 years
A
Rett Syndrome
23
Q
Metabolic disorder presenting with Hypoglycemia Hepatomegaly No reducing substances or ketones in urine Normal serum amino acid Group of disease?
A
Defects in Fatty Acid Metabolism
24
Q
Metabolic disorder presenting with Elevated ammonia Acidosis Ketonuria Group of disease?
A
Organic Acidemias
25
```
Metabolic disorder presenting with
Elevated ammonia
No acidosis or ketosis
Hypotonia and coma
Group of disease?
```
Urea Cycle Defects
26
Treatment for galactosemia
Soy-based formula
27
Definitive diagnosis for galactosemia
Measuring GALT in RBCs
28
Treatment for refractory hypoglycemia in infants
Diazoxide
29
Hypoglycemia
Hypertonia
Profound lethargy
First week of life
Maple Syrup Urine Disease
30
Treatment for homocystinuria
Pyridoxine
| Diet high in cystine and low in methionine
31
WAGR Syndrome
```
Wilms tumor
Aniridia
Genitourinary malformation
Mental Retadation
Deletion of the 11p13-
```
32
Newborn with
- Soft skull
- Short, bowed limbs
- X-rays of long bones show a "crumpled appearance"
- Ribs beaded with callus formation
- Multiple fractures
Osteogenesis Imperfecta Type 2
| most severe form with death in neonatal period
33
Child with
- Partial albinism
- White forelock
- Premature graying
- Iris heterochromia
- History of cleft lip
- Cochlear deafness
- Hirschsprung's Disease
Waardenburg Syndrome I
34
Newborn with
- LGA
- Macrocephaly
- Prominent forehead
- Hypertelorism
- Intellectual disability
- Large hands or feet
```
Sotos Syndrome
(Autosomal dominant)
```
35
18 year old with
- Hearing loss
- Tinnitiis
- Imbalance
- Facial weakness
- Opaque lens with right eye with cataract
Neurofibromatosis Type 2
36
ACE Inhibitor increase the risk of what congenital abnormalities
Renal Dysgenesis
Oligohydramnios
Skull Ossificiation Defects
37
Newborn with
- Mandibular and maxillary hypoplasia
- Zygomatic arch clefts
- Ear malformations including microtia, anotia, atresia
- Downsloping palpebral fissures
- Colobomata of the lower eyelids
- Conductive hearing loss
Treacher-Collins Syndrome
38
Newborn with
- IUGR
- Hirsutism
- Down-turned mouth
- Micrognathia
- Low hairline
- Long eyelashes
- Thin upper lip
- Cardiac defects
- Micromelia (hands/feet)
- 2,3 syndactyly of toes
Cornelia De Lange Syndrome
39
6 year old boy with
- Periorbital fullness
- Prominant, down-turned lower lip
- A very friendly personality
- Stellate pattern of the iris
- Intellectual disability
Williams Syndrome
40
1 year old with
- White sclerae
- History of fractures at birth
- Tibial bowing
- Delayed fontanelle closure
Osteogenesis Imperfecta Type IV
| Tibial bowing is hallmark
41
10 year old with
| 2 or more hemangioblastomas in the cerebellum or retina
von Hippel-Lindau Syndrome
| Autosomal dominant
42
Disorder with
- AD inheritance
- Bile duct paucity with cholestasis
- Pulmonary valve stenosis and peripheral artery stenosis
- Posterior embryotoxon
- Butterfly vertebrae
- Triangular face with pointed chin
- Long nose with broad mid-nose
Alagille Syndrome
43
2 most common GI disease associated with Downs Syndrome
Duodenal atresia
| Hirschsprung's Disease
44
Most common cardiac defect in Trisomy 18
VSD
45
3 year old with
- Blue sclerae
- Delayed fontanelle closure
- Hyperextensible joints
- Normal stature
- Hx of 3 fractures but none at birth
Osteogenesis Imperfecta Type 1
46
Newborn with
- Numerous fractures
- Severe short stature
- Blue sclerae
- Hydrocephalus
- Basilar skull invagination
Osteogenesis Imperfecta Type 3
| Neurological complications more common in Type 3
47
Which virus during pregnancy increases the risk of developing congestive heart failure
Parvovirus B19
48
What cancer is most likely to occur in a child with Down Syndrome
ALL
49
Newborn with
- Craniosynostosis
- Brachycephaly
- Hypertelorism
- Strabismus
- Maxillary hypoplasia
- Narrow palate
- Syndactyly
- Single nails
- Broad thumbs
Apert Syndrome
50
Newborn with
- Brachycephaly
- Frontal bossing
- Wormian bones
- Hypoplastic/absent clavicles
- Joint laxity
Cleidocranial Dysostosis
51
3 month old with
- Macrodactyly
- Soft tissue hypertrophy
- Hemihypertrophy
- Lipomas
- Hemangiomata
- Accelerated growth
Proteus Syndrome
52
Infant with
- Pancytopenia
- Hypoplastic thumb and radius
- Hyperpigmentation
- Abnormal facies
Fanconi anemia
53
What is the most common cardiac finding in an infant with tuberous sclerosis
Cardiac Rhabdomyomas
54
Infant with infantile spasms have a 50% risk of developing later in childhood:
Tuberous Sclerosis
55
Newborn with
- Midline cleft lip
- Microphthalmia
- Postaxial polydctyly of the limbs
- Holoprosencephaly
- Absent ribs
- Cutis aplasia
Trisomy 13 (Patau Syndrome)
56
Newborn with
- Ocular hypertelorism
- Prominent glabella
- Frontal bossing
- Micocephaly
- Beaked nose
- Short philtrum
- Hypotonia
- Seizures
Wolf-Hirschhorn Syndrome
4p- deletion
Greek Helmet facies
57
Newborn with
- Moon face
- Down-slanting palpebral fissures
- Hypotonia
- Microcephaly
- High-arched palate
- Wide and flat nasal bridge
- Unusual cry pitched like a cat
Cri-Du-Chat Syndrome
| 5p- deletion
58
Newborn with
- Everted lower lip
- "Frog-like" position with legs flexed, externally rotated and in hyperabduction
de Grouchy Syndrome
Grouchy-looking frog
18q- deletion
59
What endocrine disorder should be screened for at 3, 6, and 12 months of age in child with Downs?
Hypothyroidism
60
CATCH 22
```
Cleft palate
Absent
Thymus
Congential
Heart disease
```
22q11.2-
61
- Perrier Robin sequence
- Flat face
- High myopia
- Cataracts
- Hearing loss
Stickler Syndrome
62
Elevated maternal serum AFP: Disease (4)
Open neural tube defects
Genitourinary defects
Gastrointestinal defects
Turner Syndrome
63
Decrease maternal serum AFP: Disease
Trisomy 18
| Trisomy 21
64
Diagnostic test for Tay-Sachs Disease
Hexosaminidase A assay.
65
Differences between Shwachman-Diamond Syndrome and Cystic Fibrosis
Shwachman-Diamond Syndorme has
- Pancytopenia
- Normal electrolytes
- No hx of chronic pulmonary problems
- Sweat test normal
66
Autosomal dominant
Multiple family members with hematuria and RBC casts
Syndrome:
Thin Glomerular Basement Membrane Disease
| Benign Familial Hematuria
67
```
Autosomal dominant
Hypoplasia or absence of the patellae
Dystrophic nails
Dysplasia of the elbows
Renal disease with microhematuria and mild proteinuria with 10% progress to ESRD
```
Nail-Patella Syndrome
68
Klippel-Feil Syndrome
Congenital fusion of the cervical spine with low occipital hairline
69
Sprengel Deformity
Failure of the scapula to descend to its normal position during fetal development
70
```
Male baby
Thrombocytopenia
Eczema
Recurrent infection
Disease?
```
Wiskott–Aldrich syndrome
71
```
Presents in 1st year of life
Renal tubular acidosis
Rickets
Poor growth
Episodic neurological crisis
Disease?
```
Hereditary Tyrosinemia
72
```
Presents in first few days of life
Ketouria
Decreased feeding
Encephalopathy
Coma
Disease?
```
Maple Syrup Urine Disease
73
Near death episode that begins with diving into water. Disease?
Long QT Syndrome Type 1
74
Elevated alpha fetoprotein: Disease?
Hepatoblastoma
75
Average gain in height after menarche
7.5 cm
76
When can immunization be administered after transplantation
Cannot administer live vaccine
| Inactivated vaccine after 6 months
77
Second primary cancers in someone with retinoblastoma
Osteosarcoma
Pineal gland tumors
Soft tissue sarcomas
Melanomas
78
```
X linked recessive disease causing
- sparse light pigmented hair
- poorly functioning sweat glands
- Conical teeth
Disease?
```
Ectodermal hypoplasia
79
Icthyoses: Disease
Urea and Lactic Acid Creams
80
Tuberous Sclerosis: Inheritance
Autosomal dominant
81
Jarisch-Herxheimer Reaction
Child being treated for Lyme Disease who then develops chills and fevers and hypotension (due to lysis of organism and release of endotoxin)
82
Treatment for psoriasis (3)
High potency corticosteriods
Vit D3 analogs (calcipotriene)
Calcineurin inhibitors
83
Treatment for tinea capitus
Oral Griseofulvin
| Oral Terbinafine
84
Staphylococcal scaled skin syndrome: Definitive diagnosis
Skin biopsy and culture
| not blood culture
85
Acrodermatitis enteropathica: Cause
Malabsorption of Zinc through intestinal cells
86
Arrest of head growth
Regression of language development
Hand-wringing
Disease?
Rett Syndrome
87
Most common cause of asthma exacebration
Rhinovirus
88
Bernald-Soulier Syndrome
Disorder of platelet adhesion
89
Glanzmann Thrombasthenia
Disorder of platelet aggregation
90
```
Child or adolescent with
- Slow and clumsy gait
- Decreased reflexes
- Eye movement abnormalities
- Cardiomyopathy
Disease:
```
Friedreich Ataxia
91
Landau-Kleffner syndrome
Acquired epileptic aphasia
92
Bone marrow failure
| Exocrine pancreatic insufficiency
Shwachman-Diamond syndrome
93
Screening for Beckwith Wiedemann Syndrome
Serum alpha-fetoprotein every 3 months for embryonal tumors & hepatoblastoma
Abdominal US for Wilms tumor every 3 months
94
Bartter Syndrome: Cause?
Defect in sodium chloride reabsorption in the medullary thick ascending limb of the loop of Henle == chronic furosemide therapy
95
Gitelman syndrome: Cause?
Defect in thiazide-sensitive Na-Cl transporter in the distal tubule
96
Bartter vs Gitelman Syndrome
Gitelman Syndrome has lower urinary Ca and hypomagnesemia
97
Hyperkalemia in RTA: Which Type
Type 4
98
Development delay then regression
Self-injurious behavior
Nephrolithiasis
Lesch-Nyhan syndrome
99
Lesch-Nyhan syndrome: Best screening test
Urine urate to creatinine ratio
100
Decreased Hypoxanthine-guanine phosphoribosyltransferase enzyme activity: Diagnosis
Lesch-Nyhan syndrome
101
Most life-threatening result of clonidine ingestion
Hypotension
