Bottero L, Cinalli G, Labrune P, Lajeunie E, Marchac D, Renier D
Unité de Chirurgie Craniofaciale, Hôpital Necker Enfants-Malades, Paris.
Ann Chir Plast Esthet. 1997 Feb;42(1):48-55.
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", dysplasic ears, and occasionally urogenital or cardiac defects. Survival is closely linked to upper airway obstruction, which also affects (with craniosynostosis) mental prognosis. Association and severity of malformations 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, 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 2 further cases. The first a 4 years old male, with unilateral coronal synostosis and radiohumeral synostosis predominating on the same side. The second an 18 months old female, with brachycephaly and an 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相关，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”、耳部发育异常，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，而上呼吸道梗阻（与颅缝早闭一起）也会影响智力预后。畸形的关联和严重程度各不相同，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以及早期治疗颅缝早闭，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；遗传咨询依赖于准确的预后和治疗数据。我们描述另外2例病例。第一例是一名4岁男性，单侧冠状缝早闭和同侧桡肱关节融合为主。第二例是一名18个月大的女性，患有短头畸形和肛门闭锁。
