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一个巴西近亲家庭中的泰尔哈绍梅尔屈曲指综合征

The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.

作者信息

Gollop T R, Colletto G M

出版信息

Am J Med Genet. 1984 Feb;17(2):399-406. doi: 10.1002/ajmg.1320170203.

Abstract

We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.

摘要

我们报告了两名巴西同胞,他们的父母是近亲,具有Tel Hashomer屈曲指综合征的临床特征,即屈曲指、肌肉发育不全、骨骼异常和手掌褶皱异常。两名患病同胞均有扁平的眶顶,这在以前的病例中未被描述,并且有大量皮纹弓。患者的父亲有第五指屈曲指,可能是杂合子表现。

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