Congenital defects — Flashcards

Flashcard 91: The autosomal recessive form of polycystic kidney disease typically presents in _____

Answer: infants

Extra: Atlas:

Flashcard 92: What is the most common primary cardiac tumor in children? _____

Answer: Rhabdomyoma

Flashcard 93: What mineral deficiency is associated with acrodermatitis enteropathica? _____

Answer: Zinc deficiency

Flashcard 94: What ocular finding is classically seen in Niemann Pick disease? _____

Answer: "Cherry-red" spot on macula

Flashcard 95: Which congenital cardiovascular defects are associated with 22q11 syndrome? _____

Answer: Truncus arteriosus & Tetralogy of Fallot

Extra: * Also called Digeorge syndrome; "22" & "11" helmet on goblin and hairpin on long-haired girl

Flashcard 96: Does Tay-Sachs disease present with hepatosplenomegaly? _____

Answer: No

Flashcard 97: Congenital Rubella is characterized by _____ and/or pulmonary artery stenosis

Answer: patent ductus arteriosus

Flashcard 98: Congenital defects are the _____ leading cause of death in children

Answer: 3rd

Flashcard 99: What is the most common congenital male reproductive abnormality? _____

Answer: Cryptorchidism

Flashcard 100: Is tuberous sclerosis inherited or sporadic? _____

Answer: Inherited

Extra: Atlas: