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先天性多发性关节挛缩症的产前诊断

Prenatal diagnosis of distal arthrogryposis.

作者信息

Baty B J, Cubberley D, Morris C, Carey J

机构信息

Department of Pediatrics, University of Utah Medical Center, Salt Lake City 84132.

出版信息

Am J Med Genet. 1988 Mar;29(3):501-10. doi: 10.1002/ajmg.1320290305.

Abstract

We report the prenatal diagnosis of distal arthrogryposis type I by ultrasound at 18 wk gestation in a family with two other affected members (mother and sister of the fetus). The pregnancy was followed with serial ultrasounds, and the diagnosis was confirmed after birth. The clinical findings in all affected family members are described. A literature survey of prenatally diagnosed cases of multiple joint contractures is presented. These include cases with many different diagnoses. This is the first report of the prenatal diagnosis of distal arthrogryposis type I. It helps to illustrate the variability and prenatal natural history of the condition and the subtlety of the prenatal ultrasound findings.

摘要

我们报告了一例在妊娠18周时通过超声对Ⅰ型远端关节挛缩症进行产前诊断的病例,该家庭还有另外两名受影响成员(胎儿的母亲和姐姐)。孕期进行了系列超声检查,出生后确诊。描述了所有受影响家庭成员的临床发现。还对产前诊断为多关节挛缩症的病例进行了文献综述,其中包括许多不同诊断的病例。这是首例关于Ⅰ型远端关节挛缩症产前诊断的报告,有助于阐明该病的变异性、产前自然病史以及产前超声检查结果的细微之处。

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