title: Antley-Bixler syndrome. Description of two new cases and a review of the literature.
abstract: Antley-Bixler syndrome was first described in 1975, and to date 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped" nose, dysplastic ears and, occasionally, urogenital or cardiac defects. Survival is closely linked to upper airway obstruction. This, in addition to craniosynostosis, also affects mental prognosis. The cluster of malformations and their severity are variable, and while numerous children have died early from respiratory distress, one third of them are alive and have had quite satisfactory development. With early and effective prevention of respiratory complications and early treatment of craniosynostosis, the overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive, and midtrimester prenatal diagnosis is feasible. Genetic counseling depends on accurate prognostic and therapeutic data. We describe two new cases, a 4-year-old boy with unilateral coronal synostosis and radiohumeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.
authors.affiliation: Unité de Chirurgie Craniofaciale, Service de Neurochirurgie Pédiatrique, Hôpital Necker Enfants-Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Bottero
authors.forename: G
authors.initials: G
authors.lastname: Cinalli
authors.forename: P
authors.initials: P
authors.lastname: Labrune
authors.forename: E
authors.initials: E
authors.lastname: Lajeunie
authors.forename: D
authors.initials: D
authors.lastname: Renier
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001006:Anus, Imperforate / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D013580:Synostosis / Q000175:diagnosis / Q000235:genetics*