Genetic and Metabolic Disorders — Flashcards

Monosomy 1p36 syndrome is associated with what head circumference abnormality?

_____ 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 _____ of the limbs

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

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

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

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

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