Congenital defects — Flashcards

What pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism? _____

_____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Congential Syphilis is characterized by congenital _____ and sensorineural hearing loss due to CN VIII damage

Which immunodeficiency presents with bone fractures from minor trauma? _____

What symptoms does ventricular septal defect typically present with at birth?_____

Which lysosomal storage disease presents with corneal clouding? _____

What ocular finding is classically seen in Tay-Sachs disease?_____

Nasal polyps are associated with _____ in children

_____ may be administered to patients with D-transposition of great vessels to maintain a PDA until definitive surgical repair is performed

Which immunodeficiency is characterized by no B-cell maturation? _____