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肾缺如作为隐眼-并指综合征的诊断特征。

Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.

作者信息

Lurie I W, Cherstvoy E D

出版信息

Clin Genet. 1984 Jun;25(6):528-32. doi: 10.1111/j.1399-0004.1984.tb00496.x.

DOI:10.1111/j.1399-0004.1984.tb00496.x
PMID:6329562
Abstract

Four families with the cryptophthalmos-syndactyly syndrome are reported. Nine affected patients died in perinatal period. Autopsy, performed in 6 cases, revealed renal agenesis (bilateral in 3 and unilateral in 3 cases). These observations together with recent literature data suggest that renal malformations (agenesis or severe hypoplasia) are one of the most common features of the cryptophthalmos-syndactyly syndrome and may serve as one of diagnostic criteria for this entity.

摘要

本文报告了4个患有隐眼并指综合征的家族。9名受影响的患者在围产期死亡。对6例患者进行了尸检,发现肾缺如(3例双侧,3例单侧)。这些观察结果与近期文献数据表明,肾畸形(缺如或严重发育不全)是隐眼并指综合征最常见的特征之一,可作为该疾病的诊断标准之一。

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The clinical spectrum of the Fraser syndrome: report of three new cases and review.弗雷泽综合征的临床谱:三例新病例报告及文献复习
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