Congenital defects — Flashcards

What is 1st step in working up bilious vomiting in a neonate? _____

What is the likely diagnosis in a newborn with microcephaly, cleft lip/palate, and distal phalange hypoplasia? _____

What is the likely diagnosis in an infant that presents with macrosomia, macroglossia, umbilical hernia, hemihyperplasia, and hypoglycemia? _____

Baby with high conjugated bilirubin is managed with _____

Hint: next step

Tay-Sachs disease may be differentiated from Niemann-Pick disease by presence of _____ and the _____ of hepatosplenomegaly

Hint: hyporeflexia/hyperreflexia

What is the likely diagnosis in an African American infant that presents with symmetric swelling/tenderness of the bilateral hands and feet? _____

What childhood malignancy typically manifests as a smooth, non-tender abdominal mass that does not cross the midline and is associated with hematuria/HTN? _____

Which major autosomal trisomy is associated with hypothyroidism? _____

Cyanosis developing soon after birth that does not correct with oxygen = _____

Hint: category of diagnoses

Beckwith-Wiedemann syndrome = _____glycemia