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Antley-Bixler syndrome with radioulnar synostosis

Antley-Bixler syndrome with radioulnar synostosis

Pediatric Radiology 34(2): 148-151

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.

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Accession: 048285617

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PMID: 14513299

DOI: 10.1007/s00247-003-1066-7

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