Pediatric Radiology

, Volume 34, Issue 2, pp 148–151 | Cite as

Antley-Bixler syndrome with radioulnar synostosis

  • Maja E. HurleyEmail author
  • Martin J. White
  • Andrew J. Green
  • Jerry Kelleher
Case Report


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.


Skeleton Dysplasia Congenital Antley-Bixler syndrome Neonate 


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Maja E. Hurley
    • 1
    Email author
  • Martin J. White
    • 2
  • Andrew J. Green
    • 3
  • Jerry Kelleher
    • 1
  1. 1.Department of RadiologyOur Lady's Hospital for Sick ChildrenDublin 12Ireland
  2. 2.Department of NeonatologyOur Lady's Hospital for Sick ChildrenDublin 12Ireland
  3. 3.National Centre for Medical Genetics, Department of Medical Genetics, Conway InstituteUniversity College DublinDublin 12Ireland

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