Congenital defects — Flashcards

Flashcard 111: What congenital anomaly presents with meconium discharge from the umbilicus? _____

Answer: Vitelline fistula

Extra: Atlas:

Flashcard 112: Leukocyte adhesion deficiency is characterized by recurrent bacterial infections (skin and mucosal) with absent _____ formation

Answer: pus

Extra: UWorld: - patients also have impaired wound healing and severe periodontal disease - pus = dead neutrophils - no neutrophil out = no pus

Flashcard 113: What pathology is associated with "elfin" facies, intellectual disability, and extreme friendliness with strangers? _____

Answer: Williams syndrome

Flashcard 114: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis? _____

Answer: Williams syndrome

Flashcard 115: Classic galactosemia causes brain damage, which manifests as _____

Answer: intellectual disability

Flashcard 116: Volvulus of the _____ is more commonly seen in infants and children

Answer: midgut

Extra: Atlas:

Flashcard 117: _____ is derived from neural crest derivatives, manifesting as capillary malformations in the brain, eyes, and skin

Answer: Sturge-Weber syndrome

Extra: Sturge-Weber syndrome is a congenital, non-hereditary anomaly of neural crest derivatives caused by a somatic activating mutation of the GNAQ gene.

Flashcard 118: IgA nephropathy typically presents during childhood with episodic gross or microscopic _____-uria or RBC casts

Answer: hemat

Extra: Atlas:

Flashcard 119: Hirschsprung disease is characterized by failure to _____ within 48 hours and chronic constipation

Answer: pass meconium

Extra: Atlas:

Flashcard 120: Why is β-thalassemia major not problematic at birth? _____

Answer: High HbF is temporarily protective

Extra: Atlas: Other: