title: Spectrum of Antley-Bixler syndrome.
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.
authors.affiliation: Medical School, University of Adelaide, Adelaide, Australia. karenmcg@optus.ap.blackberry.net
authors.forename: Karen L
authors.initials: KL
authors.lastname: McGlaughlin
authors.forename: Helen
authors.initials: H
authors.lastname: Witherow
authors.forename: David J
authors.initials: DJ
authors.lastname: Dunaway
authors.forename: David J
authors.initials: DJ
authors.lastname: David
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Anderson
mesh_terms: D000233:Adenoidectomy; D054882:Antley-Bixler Syndrome Phenotype / Q000235:genetics / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014068:Tonsillectomy