TY  - JOUR
PY  - 2012//
TI  - Menkes syndrome presenting as possible child abuse
JO  - Cutis
A1  - Cronin, Hyland
A1  - Fussell, Jacqueline Nicole
A1  - Pride, Howard
A1  - Bellino, Paul
SP  - 170
EP  - 172
VL  - 90
IS  - 4
N2  - 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>
LA  - en
SN  - 0011-4162
UR  - http://dx.doi.org/
ID  - ref1
ER  -