Suppr超能文献

[遗传性并指(趾)畸形:关于一名新生儿及其母亲的该综合征观察(作者译)]

[Hereditary symphalangism: observations on this syndrome in a newborn infant and his mother (author's transl)].

作者信息

Rosegger H, Wendler H, Nika W

出版信息

Wien Klin Wochenschr. 1976 Sep 17;88(17):564-7.

PMID:997541
Abstract

Symphalangism is the partial or complete bony fusion of phalanges in the fingers and toes due to an autosomal dominant gene, with inherited failure of development of one or more interphalangeal joints. Two patients--a newborn baby and his mother--both revealing this rare malformation, are presented in this paper and the clinical and radiological features are described and discussed.

摘要

并指畸形是由于常染色体显性基因导致手指和脚趾指骨部分或完全骨性融合,伴有一个或多个指间关节先天性发育不全。本文报告了两名患有这种罕见畸形的患者——一名新生儿及其母亲,并描述和讨论了其临床和放射学特征。

相似文献

4
Trichorhinophalangeal syndrome type I.I型毛发鼻指综合征
J Eur Acad Dermatol Venereol. 1998 Jul;11(1):66-8.
5
Case report 857: Hereditary symphalangism with carpal and tarsal fusions and deafness.
Skeletal Radiol. 1994 Aug;23(6):468-70. doi: 10.1007/BF00204613.
7
Distal symphalangism: a report of two families.
J Hered. 1991 May-Jun;82(3):233-8. doi: 10.1093/oxfordjournals.jhered.a111071.
10
[Symphalangism (author's transl)].并指畸形(作者译)
Ann Radiol (Paris). 1982 Mar;25(3):213-6.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验