Congenital defects — Flashcards

What is the likely diagnosis in a child that presents with pancreatic insufficiency, failure to thrive, and recurrent respiratory infections? _____

What cause of intellectual disability is associated with small palpebral fissures, smooth philtrum, and thin vermillion border? _____

What should be suspected in a neonate with abdominal distension, poor urine output, and respiratory distress? _____

Patient presents with vascular birthmark (port-wine stain) of the face _____

Turner syndrome can have _____

Hint: skin manifestation

What is the likely diagnosis in a newborn that presents with an enlarged tongue, umbilical hernia, and jaundice with high TSH and low free T4? _____

Neonate with "double bubble" on CXR is _____

Hint: condition

Is treatment necessary for an infant with hydrocele? _____

Double bubble sign, no distal air and Down's syndrome is suggestive of _____ Double bubble sign, no distal air and NO Down's syndrome is suggestive of _____

Hint: annular pancreas/duodenal atresia

What is the likely diagnosis in a newborn that presents with cyanosis, a single loud S2 on auscultation (no murmur), and a narrow mediastinum on X-ray? _____