缺指(趾)综合征

本文报告—缺指(趾)综合征之家族。在4代62人中手足畸形者20人,对3代7人拍照了双手足正位X线片,发现足部2-4跖趾均缺如,1、5跖趾呈现跖外翻,趾内曲。外形酷似龙虾爪样。手部1-3指大多数病人缺如。也有2、3指并指畸形或指骨分叉畸形。全身其他骨关节正常,智力发育良好。本文讨论了该病的命名、分类和有关鉴别诊断。

Ectrophalangia Syndrome

A family of ectrophalangia syndrome reported. The radiologic manifestation of twenty patients were as following: absence of the second to fourth metatarsus and phalanges, the first and fifth metatarsal volgus and medial phalangeal comptodactyly, the foot configuration looks like lobster-claw deformity. On the hand, the most cases present absence of the first to third phalanges, or the second and third phalangeasl syndactyly, or bifid phalanges. There is no abnormality in other bone and any mental retardation. The nomenclature, classification and differential diagnosis of this lesion were discussed in this paper.