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Journal article

Recessive omodysplasia: five new cases and review of the literature.

Abstract:

BACKGROUND: Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. OBJECTIVE: The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. MATERIALS AND METHODS: Five new patients, including two sibs, with aut...

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Publication status:
Published

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Publisher copy:
10.1007/s00247-003-1064-9

Authors


Journal:
Pediatric radiology
Volume:
34
Issue:
1
Pages:
75-82
Publication date:
2004-01-05
DOI:
EISSN:
1432-1998
ISSN:
0301-0449
URN:
uuid:badf6412-ca3d-41a2-a8cf-adcc71185b81
Source identifiers:
119543
Local pid:
pubs:119543

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