
@article{ref1,
title="Menkes syndrome presenting as possible child abuse",
journal="Cutis",
year="2012",
author="Cronin, Hyland and Fussell, Jacqueline Nicole and Pride, Howard and Bellino, Paul",
volume="90",
number="4",
pages="170-172",
abstract="Menkes syndrome, also known as kinky-hair disease, is a rare X-linked recessive, lethal, neurodegenerative disorder of impaired copper transport. The disorder typically is characterized by fine, hypopigmented, wiry hair; doughy skin; bone and connective-tissue disturbances; vascular abnormalities that can result in spontaneous hemorrhaging; and progressive neurologic deterioration. These early findings often are easily confused with child abuse. We report a case of a 6-month-old boy with Menkes syndrome whose symptoms originally were thought to be from child abuse.<p /> <p>Language: en</p>",
language="en",
issn="0011-4162",
doi="",
url="http://dx.doi.org/"
}