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人类皮肤松垂症(VII型埃勒斯-当洛综合征)的自然病史。

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

作者信息

Reardon W, Winter R M, Smith L T, Lake B D, Rossiter M, Baraitser M

机构信息

Department of Paediatric Genetics, Hospital for Children, London, UK.

出版信息

Clin Dysmorphol. 1995 Jan;4(1):1-11.

PMID:7735500
Abstract

Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable similarity of physical signs in all four cases. The striking skin fragility which attends the phenotype is highly distinctive, so that the diagnosis may be suspected on clinical grounds. The confirmatory diagnostic procedures are discussed.

摘要

皮肤松垂症(VII型埃勒斯-当洛综合征)最近才在人类受试者中被发现。尽管在动物中有充分的记录,但迄今为止仅记录了3例人类病例,所有病例年龄均在2岁及以下。我们记录了一名患有这种新发现病症的15岁女孩,以强调所有4例病例体征的显著相似性。该表型所伴随的显著皮肤脆弱性非常独特,因此临床上可能会怀疑该诊断。文中还讨论了确诊的诊断程序。

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