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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

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.

Keywords

Skeleton Dysplasia Congenital Antley-Bixler syndrome Neonate 

References

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    Lee HJ, Cho DY, Tsai FJ, et al (2001) Antley-Bixler syndrome, description of two new cases and review of the literature. Pediatr Neurosurg 34:33–39CrossRefPubMedGoogle Scholar
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    Antley R, Bixler D (1975) X-trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects 11:397–401Google Scholar
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    Bianchi E, Cordini S, Fiori P, et al (1991) Antley-Bixler syndrome: description of two patients. Skeletal Radiol 20:339–343PubMedGoogle Scholar
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    Reardon W, Smith A, Honour JW, et al (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 37:26–32CrossRefPubMedGoogle Scholar

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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