Robinson L K, Powers N G, Dunklee P, Sherman S, Jones K L
J Pediatr. 1982 Aug;101(2):201-5. doi: 10.1016/s0022-3476(82)80117-0.
Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.
对三名患有安特利-比克斯勒综合征的非亲缘关系儿童（两名女孩和一名男孩）进行了评估，使报告患有这种疾病的患者人数达到五名。所有患者均有短头畸形、面中部发育不全、耳部发育异常、桡肱关节融合和关节挛缩。五名患者中有四名经影像学检查证实有颅缝早闭。所有五名患者的颅底均严重缩短。股骨弯曲伴新生儿骨折是一种可变特征。所有病例均为散发性，家族中其他成员正常。
