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[Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

作者信息

Plauchu H, Kemlin I, Bouvier R, Robert J M

出版信息

J Genet Hum. 1981 Dec;29(4):431-40.

PMID:7328417
Abstract

The Meckel syndrome is inherited as an autosomal recessive monogenic trait. It associates abnormalities of the neural tube (encephalo or occipital meningocele more seldom hydrocephaly) and of the extremities (post axial polydactyly) with multicystic dysplasic kidneys. When diagnosed in a conception product, it allows one's to provide an appropriate genetic counseling as well as an early and followed-up surveillance of the next pregnancies in the affected sibship. Taking the example of two families, the authors emphasize the difficulties in diagnosing this affection (mainly due to its various expressions) and the various methods available for its pre-natal detection.

摘要

相似文献

1
[Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].
J Genet Hum. 1981 Dec;29(4):431-40.
2
[The Meckel syndrome (author's transl)].[梅克尔综合征(作者译)]
Geburtshilfe Frauenheilkd. 1981 Nov;41(11):765-8. doi: 10.1055/s-2008-1036986.
3
Prenatal diagnosis of Meckel syndrome.
J Genet Hum. 1980 Dec;28(4):89-94.
4
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.梅克尔综合征:遗传学、围产期表现及鉴别诊断。
Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X.
5
[Prenatal diagnosis of Meckel-Gruber syndrome].
Z Geburtshilfe Perinatol. 1985 Jan-Feb;189(1):37-41.
6
Dandy-Walker malformation in the Meckel syndrome.梅克尔综合征中的丹迪-沃克畸形
Am J Med Genet. 1995 Jan 2;55(1):57-61. doi: 10.1002/ajmg.1320550116.
7
[Prenatal diagnosis of Meckel-Gruber's syndrome by ultrasound (author's transl(].超声产前诊断梅克尔-格鲁伯综合征(作者译)
Z Geburtshilfe Perinatol. 1981 Feb;185(1):67-71.
8
Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome.梅克尔综合征产前诊断中的超声参数
Obstet Gynecol. 1981 Mar;57(3):388-92.
9
[Contribution to information and genetic counseling in Mekkel's syndrome (author's transl)].关于梅克尔综合征的信息与遗传咨询(作者译)
MMW Munch Med Wochenschr. 1975 Oct 24;117(43):1723-4.
10
Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation.连续四名患病同胞中梅克尔-格鲁伯综合征和丹迪-沃克畸形的产前诊断,第四名在妊娠22周时进行了产前诊断。
Turk J Pediatr. 2004 Jul-Sep;46(3):283-8.

引用本文的文献

1
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases.梅克尔综合征。8例病例的病理学和细胞遗传学观察。
Hum Genet. 1982;62(3):240-5. doi: 10.1007/BF00333528.