Genetic and Metabolic Disorders — Flashcards

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

_____ syndrome is characterized by developmental delay, hypotonia, ataxia, breathing abnormalities including episodic apnea and hyperpnea

Which types of Osteogenesis imperfecta present with blue sclera?_____

Cri-du-chat syndrome is characterised by _____tonia

Achondroplasia usually presents with _____ symptoms

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

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

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

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

Patients with Alagille syndrome usually present with a _____ stature and a failure to thrive