Congenital defects — Flashcards

Flashcard 441: Does Tay-Sachs disease present with hepatosplenomegaly? _____

Answer: No

Flashcard 442: What symptoms does ventricular septal defect typically present with at birth?_____

Answer: Typically asymptomatic

Flashcard 443: Which lysosomal storage disease presents with corneal clouding? _____

Answer: Hurler syndrome

Flashcard 444: The most common cause of bladder outlet obstruction in male infants is _____

Answer: posterior urethral valves

Flashcard 445: Which immunodeficiency is characterized by no B-cell maturation? _____

Answer: X-linked (Bruton) agammaglobulinemia

Flashcard 446: SCID is characterized by an absent _____ on CXR

Answer: thymic shadow

Flashcard 447: 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 448: What congenital renal defect may cause portal hypertension in an infant?_____

Answer: Autosomal recessive PKD

Flashcard 449: Does Hurler syndrome present with corneal clouding? _____

Answer: Yes

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

Answer: Type I