Spectrum of Antley-Bixler syndrome

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

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

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.

LanguageEnglish
Pages1560-1564
Number of pages5
JournalJournal of Craniofacial Surgery
Volume21
Issue number5
DOIs
Publication statusPublished - 1 Jan 2010
Externally publishedYes

Keywords

  • Antley-Bixler syndrome
  • FGFR2
  • Phenotype
  • POR

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Surgery
  • Medicine(all)

Cite this

McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., & Anderson, P. (2010). Spectrum of Antley-Bixler syndrome. Journal of Craniofacial Surgery, 21(5), 1560-1564. https://doi.org/10.1097/SCS.0b013e3181ec6afe
McGlaughlin, Karen L. ; Witherow, Helen ; Dunaway, David J. ; David, David J. ; Anderson, Peter. / Spectrum of Antley-Bixler syndrome. In: Journal of Craniofacial Surgery. 2010 ; Vol. 21, No. 5. pp. 1560-1564.
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McGlaughlin, KL, Witherow, H, Dunaway, DJ, David, DJ & Anderson, P 2010, 'Spectrum of Antley-Bixler syndrome', Journal of Craniofacial Surgery, vol. 21, no. 5, pp. 1560-1564. https://doi.org/10.1097/SCS.0b013e3181ec6afe

Spectrum of Antley-Bixler syndrome. / McGlaughlin, Karen L.; Witherow, Helen; Dunaway, David J.; David, David J.; Anderson, Peter.

In: Journal of Craniofacial Surgery, Vol. 21, No. 5, 01.01.2010, p. 1560-1564.

Research output: Contribution to journalArticle

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McGlaughlin KL, Witherow H, Dunaway DJ, David DJ, Anderson P. Spectrum of Antley-Bixler syndrome. Journal of Craniofacial Surgery. 2010 Jan 1;21(5):1560-1564. https://doi.org/10.1097/SCS.0b013e3181ec6afe