Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D
Unité de Chirurgie Craniofaciale, Service de Neurochirurgie Pédiatrique, Hôpital Necker Enfants-Malades, Paris, France.
Childs Nerv Syst. 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082.
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.
安特利-比克斯勒综合征于1975年首次被描述，迄今为止已报告20例。除了短头畸形外，该综合征还与面中部发育不全有关，常伴有后鼻孔狭窄或闭锁、双侧桡肱关节融合、多关节挛缩、股骨弯曲和长骨骨折、“梨形”鼻、发育异常的耳朵，偶尔还伴有泌尿生殖系统或心脏缺陷。生存与上呼吸道梗阻密切相关。这除了颅缝早闭外，还会影响智力预后。畸形的组合及其严重程度各不相同，虽然许多儿童早期死于呼吸窘迫，但其中三分之一存活下来且发育相当令人满意。通过早期有效预防呼吸并发症和早期治疗颅缝早闭，总体预后可能良好。遗传方式可能为常染色体隐性遗传，孕中期产前诊断可行。遗传咨询取决于准确的预后和治疗数据。我们描述了两例新病例，一名4岁男孩患有单侧冠状缝早闭和同侧桡肱关节融合，一名18个月大女孩患有短头畸形和肛门闭锁。
