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Pediatr Radiol. 2004 Feb;34(2):148-51. Epub 2003 Sep 26.

Antley-Bixler syndrome with radioulnar synostosis.

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1
Department of Radiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. majadonhurley@eircom.net

Abstract

This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome.

PMID:
14513299
DOI:
10.1007/s00247-003-1066-7
[Indexed for MEDLINE]
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