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无舌-无指综合征(特别强调遗传模式)。

Aglossia-adactylia syndrome (special emphasis on the inheritance pattern).

作者信息

Tuncbilek E, Yalcin C, Atasu M

出版信息

Clin Genet. 1977 Jun;11(6):421-3. doi: 10.1111/j.1399-0004.1977.tb01338.x.

Abstract

Three cases, one with aglossia-adactylia and two with aglossia, are presented, all of whom were born to consanguineous families. Although none of the cases had similarly affected sibs, the possibility of the autosomal recessive mode of inheritance might be taken into account in this syndrome. The dermatoglyphic findings in one previously reported patient showed great similarity to those of one of our cases.

摘要

本文报告了3例病例,其中1例患有无舌-无指畸形,2例患有无舌畸形,所有病例均来自近亲家庭。虽然这些病例中没有一个有同样患病的同胞,但该综合征可能存在常染色体隐性遗传模式。之前报道的1例患者的皮纹学表现与我们其中1例病例的表现极为相似。

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