Spectrum of Antley-Bixler syndrome

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

Research output: Contribution to journalArticlepeer-review

36 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 or Issued - Sept 2010
Externally publishedYes


  • Antley-Bixler syndrome
  • FGFR2
  • POR
  • Phenotype

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

Cite this