Genetic and Metabolic Disorders — Flashcards

What is the most common porphyria in children?

Freckles, cafe-au-lait spots and lateral non-tender neck mass in a pediatric patient suggest a _____

Which types of Osteogenesis imperfecta present with blue sclera?_____

Cri-du-chat syndrome is characterised by _____tonia

Achondroplasia usually presents with _____ of the limbs

Horseshoe kidney is more commonly found in patients with sacral agenesis, high cloacas, and _____ syndrome

What may be an early marker of Hunter's syndrome?_____

Presence of a third fontanelle may suggest trisomy _____ or prematurity.

Disproportionate involvement of CNS is unique feature of which mucopolysaccharidosis?_____

Heel-prick Guthrie test is the neonatal screening test for _____.