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[梅克尔综合征。一例复发病例的最新情况]

[Meckel syndrome. Update on a recurrent case].

作者信息

Calmelet P, Feidt X, Viville B, Olivier D, Treisser A

机构信息

Clinique gynécologique et Obstétricale, Hôpital Civil, Strasbourg.

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1997;26(4):435-41.

PMID:9265071
Abstract

Meckel's syndrome is an autosomal recessive disorder classically defined by occipital encephalocele, multicystic kidneys and polydactyly. However, a very wide phenotypic spectrum is characteristic of Meckel's syndrome. The prenatal diagnosis of this lethal syndrome is approached with ultrasound examination. The karyotype has to be done in order to make the differential diagnosis, especially with Trisomy 13 or 18. The rate of the Meckel's syndrome's gene is 1/400. The isolation of the specific gene will be soon helpful to define the Meckel's syndrome precisely.

摘要

梅克尔综合征是一种常染色体隐性疾病,典型特征为枕部脑膨出、多囊肾和多指(趾)畸形。然而,梅克尔综合征具有非常广泛的表型谱。该致死性综合征的产前诊断通过超声检查进行。必须进行核型分析以进行鉴别诊断,尤其是与13三体或18三体鉴别。梅克尔综合征的基因携带率为1/400。特定基因的分离不久将有助于精确界定梅克尔综合征。

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