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伴有髌骨反复脱位的毛发鼻指综合征

The trichorhinophalangeal syndrome with repeated dislocation of the patella.

作者信息

Puliyel J M, Puliyel M M, Varughese S

机构信息

Medical Trust Hospital, Cochin, India.

出版信息

Clin Genet. 1992 Mar;41(3):139-42. doi: 10.1111/j.1399-0004.1992.tb03650.x.

Abstract

The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for Ehlers-Danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. Literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndrome.

摘要

与皮肤和关节松弛相关的毛发鼻指综合征曾被误诊为埃勒斯-当洛综合征(琼斯,1988年)。我们报告一例被误诊为拉森综合征的毛发鼻指综合征病例。对拉森综合征的文献和已发表的照片进行回顾,以突出这两种疾病之间的相似之处。这些观察结果可能对拉森综合征的基因定位有价值,拉森综合征可能是一种邻接基因综合征。

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