Spectrum of Antley-Bixler syndrome

Karen L. McGlaughlin*, Helen Witherow, David J. Dunaway, David J. David, Peter J. Anderson

*Corresponding author for this work

Research output: Contribution to journalArticle

31 Citations (Scopus)


Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen within ABS, and other features include midface hypoplasia; choanal stenosis or atresia; multiple joint contractures; visceral anomalies, particularly of the genitourinary system; and impaired steroidogenesis. The condition of ABS is curious in that mutations of 2 separate genes have been identified and that there seem to be subtle phenotypic differences between the 2 genotypes. Mutations of the P450 oxidoreductase gene have been reported in those patients with genital anomalies and/or impaired steroidogenesis, and the S351C mutation of the fibroblast growth factor receptor 2 gene has been reported predominantly in those patients with normal genitalia and steroidogenesis. We report a series of 4 patients with ABS and review their main findings and management.

Original languageEnglish
Pages (from-to)1560-1564
Number of pages5
JournalJournal of Craniofacial Surgery
Issue number5
Publication statusPublished - 2010
Externally publishedYes


  • Antley-Bixler syndrome
  • FGFR2
  • Phenotype
  • POR

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    McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., & Anderson, P. J. (2010). Spectrum of Antley-Bixler syndrome. Journal of Craniofacial Surgery, 21(5), 1560-1564. https://doi.org/10.1097/SCS.0b013e3181ec6afe