Literature DB >> 3968142

Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture.

A Langenskiöld.   

Abstract

A patient with typical congenital contractural arachnodactyly followed up from the age of 12 years to the age of 48 is reported. He had spiderlike fingers and toes and marked contractures of the knees, ankles, toes, shoulders, elbows and fingers; the mobility of the hips and wrists was almost normal. Persistent knee contractures prevented him from walking. In his twenties he had an osteotomy of both femora and shortening of the patellar tendons which enabled him to walk for the first time in an upright position without external support. When seen at the age of 48 the range of movement of his knees was 0 to 90 degrees. He was working as a turner and had been doing so for almost 20 years.

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Year:  1985        PMID: 3968142

Source DB:  PubMed          Journal:  J Bone Joint Surg Br        ISSN: 0301-620X


  1 in total

1.  Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Authors:  Hao Deng; Qian Lu; Hongbo Xu; Xiong Deng; Lamei Yuan; Zhijian Yang; Yi Guo; Qiongfen Lin; Jingjing Xiao; Liping Guan; Zhi Song
Journal:  PLoS One       Date:  2016-05-19       Impact factor: 3.240

  1 in total

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