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.
journal_name
Cutisjournal_title
Cutisauthors
Cronin H,Fussell JN,Pride H,Bellino Psubject
Has Abstractpub_date
2012-10-01 00:00:00pages
170-2issue
4eissn
0011-4162issn
2326-6929journal_volume
90pub_type
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