Congenital defects — Flashcards

Flashcard 441: Which immunodeficiency is characterized by no B-cell maturation? _____

Answer: X-linked (Bruton) agammaglobulinemia

Flashcard 442: Nasal polyps are associated with _____ in children

Answer: cystic fibrosis

Flashcard 443: What ocular finding is classically seen in Tay-Sachs disease?_____

Answer: "Cherry-red" spot on macula

Flashcard 444: _____ may be administered to patients with D-transposition of great vessels to maintain a PDA until definitive surgical repair is performed

Answer: PGE

Flashcard 445: _____ syndrome is characterized by many juvenile polyps in the stomach, colon, and small bowel

Answer: Juvenile polyposis

Flashcard 446: In its most severe form, fetal alcohol syndrome may cause facial clefts and which midline brain malformation?

Answer: Holoprosencephaly (and facial clefts)

Extra: Fetal alcohol syndrome is a leading cause of congenital intellectual disability. It is thought to result from failure of cell migration. In severe cases, disruption of midline development (e.g., via Sonic Hedgehog pathway disruption) can lead to holoprosencephaly and facial clefting. Other high-yield features: - Facial dysmorphism: Short palpebral fissures, smooth philtrum, thin upper lip (vermilion border). - Cardiac: VSD is common. - Growth: Prenatal and postnatal growth retardation.

Flashcard 447: SCID is characterized by an absent _____ on CXR

Answer: thymic shadow

Flashcard 448: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____

Answer: Williams syndrome

Flashcard 449: What congenital renal defect may cause portal hypertension in an infant?_____

Answer: Autosomal recessive PKD

Flashcard 450: Which form of Crigler-Najjar syndrome is more severe? _____

Answer: Type I