Antley-Bixler 综合征，无生殖器异常或类固醇生成紊乱
基因病名称(英)
Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis
基因病名称
Antley-Bixler 综合征，无生殖器异常或类固醇生成紊乱
别名(英)
Multisynostotic osteodysgenesis with long bone fractures,Osteodysgenesis multisynostotic with fractures,Trapezoidocephaly-synostosis syndrome
别名
多发性骨发育异常伴长骨骨折、多发性骨发育不全伴骨折、梯形头畸形-缝合综合征
统计
reviewed:1; annotated:0
交叉引用
207410,C2936791,D054882
描述(英)
A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported.
描述
一种罕见的综合征，其特征是颅缝早闭、围产期出现的桡肱骨关节早闭、面中部发育不全、后鼻孔狭窄或闭锁、股骨弯曲和多发性关节挛缩。还报告了蛛形趾和/或弯曲趾。