Congenital defects — Flashcards

Which ventral wall defect is associated with Beckwith Wiedemann Syndrome?_____

_____ presents as chorioretinitis, hydrocephalus, and intracranial calcifications

Congenital varicella syndrome can result in _____ (ocular pathology)

What is the mode of inheritance of juvenile polyposis syndrome? _____

How soon after birth does pyloric stenosis typically present? _____

What MSK pathology is associated with a space between the 3rd and 4th fingers ('trident hands')? _____

How soon after birth does intestinal atresia typically present? _____

What is the most common cardiac anomaly in Turner Syndrome?

What is the most common malignant germ cell tumor in children and the most common testicular tumor in infants? _____

What is the second most common cause of genetic intellectual disability? _____