Congenital defects — Flashcards

When does pyloric stenosis typically present? _____

What are the two most common causes of death among patients with spinal muscular atrophy (SMA)? _____

Macrocephaly, tense fontanelle, and a positive sunset eye sign are suggestive of _____

Neonate with polyhydramnios in utero, now bilious emesis; distended stomach and proximal duodenum with no distal air on X-ray? What is on the ddx? _____

Hint: 2

What is the most common cause of meconium illeus? _____

Rapid Diagnosis Down Syndrome patient with back pain, ataxia, incontinence, and quadriplegia _____

Infants of diabetic mothers are at increased risk of _____ malformations, such as cardiac and CNS, renal, and limb deformities

What would you normally see in a patient with low implantation of a ureter? In what gender? _____

Ductal-dependent congenital heart diseases require _____ until surgery can be performed

What chromosomal abnormality is associated with holoprosencephaly/microcephaly, intellectual disability, cleft lip/palate, and small eyes? _____