多处环形皮肤褶皱及其他异常：综合征界定中的一个问题。
Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation.
作者信息
Cohen M M, Gorlin R J, Clark R, Ewing S G, Camfield P R
机构信息
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
出版信息
Clin Dysmorphol. 1993 Jan;2(1):39-46.
PMID:8298737
Abstract
Three patients with multiple ring creases of the extremities are reported. Evidence to date points to aetiological heterogeneity. The skin folds may occur as an isolated abnormality or together with other patterns of malformation, making-up various syndromes that need to be further delineated. One type is associated with autosomal dominant inheritance. This striking abnormality usually resolves with time.
摘要
本文报告了3例患有肢体多发性环状皱襞的患者。迄今为止的证据表明病因存在异质性。皮肤褶皱可能作为一种孤立的异常出现，或与其他畸形模式同时出现，构成各种需要进一步明确的综合征。其中一种类型与常染色体显性遗传有关。这种明显的异常通常会随着时间的推移而消失。
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