Combo with "ABGC Boards" and 12 others Exam Questions and Answers 100% Pass

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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



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