Genetic and Metabolic Disorders — Flashcards

All digits of equal length (starfish hand) is seen in _____

Vogt's traid of tuberous sclerosis consists of EPILOA:_____

Which demyelinating disease affects the white matter of the central nervous system, adrenal cortex, and testes?_____

Neurological involvement is not seen in type _____ Gaucher's disease.

Patients with neurofibromatosis type _____ and Noonan syndrome have a predilection to develop juvenile myelomonocytic leukemia

Persistent hyperplastic primary vitreous (PHPV) is associated with _____.

Is irritability and crying an inherent feature of inborn errors of metabolism?_____

Spinal Muscular Atrophy is an _____ condition

What is the most common porphyria in children?_____

Monosomy 1p36 is associated with _____rocephaly.