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肺泡粘连、睑缘粘连和外胚层疾病:一种常染色体隐性疾病?

Alveolar synechia, ankyloblepharon, and ectodermal disorders: an autosomal recessive disorder?

作者信息

Ohishi M, Kai S, Ozeki S, Tashiro H

机构信息

First Department of Oral Surgery, Faculty of Dentistry, Kyushu University, Fukuoka, Japan.

出版信息

Am J Med Genet. 1991 Jan;38(1):13-5. doi: 10.1002/ajmg.1320380104.

Abstract

A male patient with alveolar synechia and ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.

摘要

报告了一名患有肺泡粘连和先天性丝状睑缘粘连的男性患者。他还患有双侧口角唇凹、下唇系带附着过低、全身性指甲发育不全和头皮毛发呈羊毛状。他是近亲结婚父母的后代。该疾病似乎是一种具有杂合子表达的常染色体隐性综合征。

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