Genetic and Metabolic Disorders — Flashcards

Infant presenting with failure to thrive, steatorrhea, _____ in the peripheral smear is suggestive of _____.

_____ disease is a mucopolysaccharidosis characterised by the _____ of hepatosplenomegaly and the preservation of intelligence.

In Duchenne muscular dystrophy (DMD), surveillance testing should include: - _____, to monitor for arrhythmia - Echocardiography, to screen for dilated cardiomyopathy - _____ in the sitting position

Giant inclusions in polymorphonuclear neutrophils, which along with oculocutaneous albinism, and neutropenia is seen in _____ syndrome

Mental retardation is seen in all types of Mucopolysaccharidosis (MPS) except MPS _____

Infant presenting with failure to thrive, steatorrhea, _____ in the peripheral smear is suggestive of _____.

_____ syndrome presents with _____-onset nephrotic syndrome, progressive renal insufficiency, _____ genitalia, and Wilms tumor.

Macroglossia and omphalocele present along with Wilm's tumor points to the diagnosis of _____ syndrome.

The curative treatment for Chediak Higashi syndrome is _____