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Congenital skull fracture as a presentation of Menkes disease

✍ Scribed by Tim Ubhi; Ashley Reece; Adam Craig

Book ID
111129208
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
50 KB
Volume
42
Category
Article
ISSN
0012-1622

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## Abstract We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a β€œhieroglyphic appearance.” The analy