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Combo with "ABGC Boards" and 12 others Exam
Questions and Answers 100% Pass
What heart defects can be seen in Noonan syndrome? - ANSWER ✔✔-Pulmonary valve stenosis and
hypertrophic cardiomyopathy
What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations,
scoliosis, lymphedema, hematological disorders? - ANSWER ✔✔-Noonan syndrome
What genes are associated with HHT? - ANSWER ✔✔-ACVRL1, ENG, SMAD4
What percentage of Tuberous Sclerosis is de novo? - ANSWER ✔✔-2/3
What major systems are affected by Tuberous Sclerosis? - ANSWER ✔✔-Skin, CNS, Renal, Lung, Heart
and Eye
Prenatal ultrasound suggestive of Tuberous Sclerosis? - ANSWER ✔✔-Rhabdomyoma
Skin features of Tuberous Sclerosis? - ANSWER ✔✔-Facial angiofibroma, shagreen and ungual fibromata
What syndrome is characterized by microcephaly, beaked nose, broad thumbs and toes, sleep apnea and
strabimus - ANSWER ✔✔-Rubenstein Taybi
Triploidy accounts for what percentages of SABs? - ANSWER ✔✔-6-10%
Paternal triploidy results in? - ANSWER ✔✔-Hydrophic large placenta, moderate IUGR, normal or
microcephalic head
What condition is associated with malformed, thickened, small nails? - ANSWER ✔✔-Hidrotic
ectodermal dysplasia
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What is not associated with factor V leiden? - ANSWER ✔✔-MI, stroke and arterial thrombosis
Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia? - ANSWER ✔✔-Charcot Marie Tooth
Progression of muscle weakness in DMD/BMD? - ANSWER ✔✔-Proximal to distal
Progressive limb and gait ataxia <25y? - ANSWER ✔✔-Friedreich's Ataxia
Ataxia, diabetes mellitus and optic nerve atrophy? - ANSWER ✔✔-Friedreich's Ataxia
Gene associated with Rett? - ANSWER ✔✔-MECP2
Developmental regression, acquired microcephaly and hand wringing movements? - ANSWER ✔✔-Rett
syndrome
Heart anomaly associated with Rett syndrome? - ANSWER ✔✔-Long QT
What gene is associated with Krabbe disease? - ANSWER ✔✔-GALC
What syndrome is associated with infantile hypertonicity but neurological deterioration? - ANSWER ✔✔-
Krabbe
Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression, seizures, chronic
constipation common - ANSWER ✔✔-Sotos
What gene is associated with Canavan syndrome? - ANSWER ✔✔-ASPA
Macrocephaly, lack of head control, DD by 3-5mo, severe hypotonia? - ANSWER ✔✔-Canavan
What syndrome is caused by mutations in the IKBKAP gene? - ANSWER ✔✔-Familial Dysautonomia
Syndrome characterized by progressive GI dysfunction,recurrent pneumonia, altered pain/temp
sensitivity and breath holding behavior? - ANSWER ✔✔-Familial Dysautonomia
Recurrent fever and joint pain? - ANSWER ✔✔-FMF
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Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? - ANSWER ✔✔-
Bardet-Biedel
Bardet-Biedel follows what pattern of inheritance? - ANSWER ✔✔-AR
Alagille follows what inheritance pattern? - ANSWER ✔✔-AD
Peripheral artery disease, cholestasis, butterfly vertebrae, eye abnormalities, development/growth delay?
- ANSWER ✔✔-Alagille
Bilateral SNHL, Long QT? - ANSWER ✔✔-Jervell and Lange-Nielsen
Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? - ANSWER ✔✔-Pendred
What syndrome is characterized by cranisynostosis, hypo plastic clavicles and dental anomalies? -
ANSWER ✔✔-Cleidocranial Dysplasia
What syndrome is associated with post natal growth failure, progressive microcephaly, cutaneous
photosensitivity, dental abnormalities, SNHL and cataracts? - ANSWER ✔✔-Cockanye
What syndrome is associated with ID, microcephaly, short, soft hyperexstensible tapering fingers with
narrow/small nails, stimulus induced drop attacks, progressive kyphoscoliosis? - ANSWER ✔✔-Coffin-
Lowry
Coffin-Lowry follows what inheritance pattern? - ANSWER ✔✔-XL dom
Percentage of 22q11.2 deletion syndrome cases that are de novo? - ANSWER ✔✔-93%
What syndrome is associated with progressive renal insufficiency, progressive bilateral SNHL and
anterior lenticonus? - ANSWER ✔✔-Alport
What is the classic triad of Aicardi syndrome? - ANSWER ✔✔-Agenesis of the corpus callous,
chorioretinal lacunae and infantile spasms
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What does WAGR stand for? - ANSWER ✔✔-Wilm's tumor, choanal atresia, genital anomalies and
mental retardation
RR to sibs with one previous child affected with autism and no other family history? - ANSWER ✔✔-5-
10%
1-3% of children ascertained for autism spectrum disorders have what condition? - ANSWER ✔✔-Fragile
X
What syndrome is associated with the following triad: dysplastic nails, lacy reticular pigmentation or the
upper chest/neck and oral leukoplakia? - ANSWER ✔✔-Dyskeratosis Congenita
What collagen gene is responsible for vascular type EDS? - ANSWER ✔✔-COL3A1
What percentage of vascular type EDS cases are de novo? - ANSWER ✔✔-50%
What syndrome is associated with pain crises of the exremities, vascular cutaneous lesions, sweating
abnormalities, corneal lenticular opacities and proteinuria? - ANSWER ✔✔-Fabry
Fabry disease follows what inheritance pattern? - ANSWER ✔✔-XL dom
What syndrome is also known as Hurler syndrome? - ANSWER ✔✔-Mucopolysaccharidosis type 1
Insulin-requiring hyperglycemia within the first month of life - ANSWER ✔✔-Neonatal diabetes mellitus
Limb Girdle follows what inheritance pattern? - ANSWER ✔✔-AR and AD
Weakness progression in Limb Girdle muscular dystrophy? - ANSWER ✔✔-Proximal
What syndrome is characterized by progressive muscle wasting and weakness with onset in adulthood --
other features include myotonia, cataracts, and cardiac conduction defects? - ANSWER ✔✔-Myotonic
dystrophy
Myotonic dystrophy follows what inheritance pattern? - ANSWER ✔✔-AD
Created by Grace Amelia © 2025, All Rights Reserved.
