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小头畸形、小眼畸形和视网膜皱襞：一家系报告 - Suppr | 超能文献

小头畸形、小眼畸形和视网膜皱襞：一家系报告

Microcephaly, microphthalmos, and retinal folds: report of a family.

作者信息

Young I D, Fielder A R, Simpson K

出版信息

J Med Genet. 1987 Mar;24(3):172-4. doi: 10.1136/jmg.24.3.172.

DOI:10.1136/jmg.24.3.172

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049953/

Abstract

A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.

摘要

本文描述了一名患有小头畸形、小眼畸形和视网膜皱褶的智力发育迟缓男孩。他的母亲和姐姐有小眼畸形，姐姐还有小头畸形。另一个有类似发现的家庭也已被描述，这表明这种异常组合构成了一种呈现单基因遗传的离散实体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/b9ed70025a2b/jmedgene00077-0045-b.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/715a7980e6a6/jmedgene00077-0044-a.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/e761b5484e3a/jmedgene00077-0045-a.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/b9ed70025a2b/jmedgene00077-0045-b.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/715a7980e6a6/jmedgene00077-0044-a.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/e761b5484e3a/jmedgene00077-0045-a.jpg

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e6/1049953/b9ed70025a2b/jmedgene00077-0045-b.jpg

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[Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriages].[两例先天性镰状视网膜脱离及其他两例眼部先天性异常，出现在一个近亲结婚的家系中]

Rinsho Ganka. 1962 Mar;16:325-31.

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Clin Genet. 1981 Oct;20(4):260-6. doi: 10.1111/j.1399-0004.1981.tb01031.x.

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