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环形皮肤皱襞、腭裂、典型面容、智力障碍及生长发育迟缓:“昆泽型环形皮肤皱襞”

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".

作者信息

Wouters Leen, Rodriguez Rodriguez Celia Maria, Dapena Elena Porta, Poorten Vincent Vander, Devriendt Koen, Van Esch Hilde

机构信息

Department of Paediatrics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

出版信息

Eur J Med Genet. 2011 May-Jun;54(3):236-40. doi: 10.1016/j.ejmg.2011.01.003. Epub 2011 Jan 22.

Abstract

Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth retardation, developmental delay, a typical facial appearance and cleft palate. In literature, 6 patients with an almost identical clinical phenotype have been described. This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type".

摘要

先天性对称性环形皮肤皱褶是一种罕见的体征,常被描述为“米其林轮胎宝宝”综合征,总体预后良好。然而,在一些患者中,环形皮肤皱褶与其他先天性畸形相关。我们描述了2例无亲缘关系的患者,他们表现为多处环形皮肤皱褶、生长发育迟缓、发育延迟、典型的面部外观和腭裂。在文献中,已经描述了6例具有几乎相同临床表型的患者。这种易于识别的综合征应与“米其林轮胎宝宝”综合征相区分,因此我们提出“Kunze型环形皮肤皱褶”这一术语。

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