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弗雷泽综合征(隐眼并指综合征):11例尸检结果综述

Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.

作者信息

Boyd P A, Keeling J W, Lindenbaum R H

机构信息

Department of Medical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.

出版信息

Am J Med Genet. 1988 Sep;31(1):159-68. doi: 10.1002/ajmg.1320310119.

Abstract

Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported. Eight cases presented as neonatal deaths, one as a stillbirth, and there were 2 midtrimester fetuses. All of the cases had ocular, otic, digital, laryngeal, and renal abnormalities. Details of the pregnancies and sibship data are also reported. The possibility of prenatal diagnosis for this syndrome is discussed.

摘要

报告了11例疑似弗雷泽(隐眼-并指)综合征病例的详细尸检结果。8例为新生儿死亡,1例为死产,还有2例孕中期胎儿。所有病例均有眼部、耳部、手指、喉部和肾脏异常。还报告了妊娠细节和家族数据。讨论了该综合征产前诊断的可能性。

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