桡肱关节融合、股骨弯曲、其他骨骼异常及肛门闭锁，是安特利-比克斯勒综合征的一种变异型病例？

Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?

作者信息

Antich J, Iriondo M, Lizarraga I, Manzanares R, Cusi V

机构信息

Secció de Genética, Hospital Sant Joan de Deu, Barcelona, Spain.

出版信息

Genet Couns. 1993;4(3):207-11.

PMID:8267929

Abstract

We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.

摘要

我们报告了一名患有桡肱关节融合、股骨弓形弯曲、肛门闭锁、鼻梁突出（梨形鼻）、肋骨细长、手指远端呈锥形且伴有远端屈曲指、生殖器发育不全以及新生儿肱骨骨折的新生儿。在可能的鉴别诊断中，安特利-比克斯勒综合征的一个变异型被认为是最有可能的最终诊断。