Congenital defects — Flashcards

Which neurocutaneous disorder is associated with somatic mosaicism? _____

Is dysplastic kidney heritable? _____

Alprostadil is used to maintain a _____ in the setting of certain types of congenital heart disease

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

Patients with patent ductus arteriosus can be predisposed to _____ infections

Which CNS tumor compresses the optic chiasm, causing bitemporal hemianopsia, in children? _____

Classic galactosemia causes brain damage, which manifests as _____

What ocular pathology does Krabbe disease often present with?_____

Diamond-Blackfan anemia is characterized by increased % Hb_____, but decreased total Hb

_____ is the most common cause of dwarfism