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两名无亲缘关系的男性患者出现严重智力发育迟缓、具有面中部发育不全和额颞部过早脱发的特征性面容、肌肉萎缩以及小髌骨。

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

作者信息

Fryns J P, Thiry P, Geutjens J, Smeets E, Vinken L, Van den Berghe H

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

J Med Genet. 1993 Apr;30(4):319-21. doi: 10.1136/jmg.30.4.319.

DOI:10.1136/jmg.30.4.319
PMID:8487281
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016344/
Abstract

Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.

摘要

据报道，有两名智力严重迟钝且无血缘关系的男性，患有一种不明的多发性先天性异常/智力迟钝综合征，包括早秃、髌骨脱位、手足短小以及性腺功能减退，这与该杂志之前发表的一篇关于一名患有畸形特征的严重智力迟钝男性患者的报道相似。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ca4/1016344/7baf5fd746c6/jmedgene00006-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ca4/1016344/7aa9bc8e7a27/jmedgene00006-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ca4/1016344/7baf5fd746c6/jmedgene00006-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ca4/1016344/7aa9bc8e7a27/jmedgene00006-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ca4/1016344/7baf5fd746c6/jmedgene00006-0058-b.jpg

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Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.两名无亲缘关系的男性患者出现严重智力发育迟缓、具有面中部发育不全和额颞部过早脱发的特征性面容、肌肉萎缩以及小髌骨。
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本文引用的文献

1
Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism.不明综合征：伴有畸形特征、早秃、髌骨脱位、肢端过小症和性腺功能减退的智力发育迟缓。
J Med Genet. 1991 Feb;28(2):140-2. doi: 10.1136/jmg.28.2.140.