Combo with "ABGC Boards" and 12 others (Possible questions with 100% correct answers)

What heart defects can be seen in Noonan syndrome? correct answers Pulmonary valve stenosis and hypertrophic cardiomyopathy What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? correct answers Noonan syndrome What genes are associated with HHT? correct answers ACVRL1, ENG, SMAD4 What percentage of Tuberous Sclerosis is de novo? correct answers 2/3 What major systems are affected by Tuberous Sclerosis? correct answers Skin, CNS, Renal, Lung, Heart and Eye Prenatal ultrasound suggestive of Tuberous Sclerosis? correct answers Rhabdomyoma Skin features of Tuberous Sclerosis? correct answers Facial angiofibroma, shagreen and ungual fibromata What syndrome is characterized by microcephaly, beaked nose, broad thumbs and toes, sleep apnea and strabimus correct answers Rubenstein Taybi Triploidy accounts for what percentages of SABs? correct answers 6-10% Paternal triploidy results in? correct answers Hydrophic large placenta, moderate IUGR, normal or microcephalic head What condition is associated with malformed, thickened, small nails? correct answers Hidrotic ectodermal dysplasia What is not associated with factor V leiden? correct answers MI, stroke and arterial thrombosis Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia? correct answers Charcot Marie Tooth Progression of muscle weakness in DMD/BMD? correct answers Proximal to distal Progressive limb and gait ataxia <25y? correct answers Friedreich's Ataxia Ataxia, diabetes mellitus and optic nerve atrophy? correct answers Friedreich's Ataxia Gene associated with Rett? correct answers MECP2