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三兄弟中出现的一种新的尿道下裂-智力发育迟缓综合征。

A new hypospadias-mental retardation syndrome in three brothers.

作者信息

Goldblatt J, Wallis C, Viljoen D

机构信息

Department of Human Genetics and Medicine, University of Cape Town Medical School, Republic of South Africa.

出版信息

Am J Dis Child. 1987 Nov;141(11):1168-9.

PMID:3673966
Abstract

Three brothers had a syndrome of hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. No other family members were affected, and this previously undelineated condition appears to be inherited in either an autosomal recessive or X-linked recessive mode.

摘要

三兄弟患有尿道下裂和智力障碍综合征,伴有小头畸形、颅面畸形、关节松弛和喙状指甲。没有其他家庭成员受影响,这种以前未被描述的病症似乎以常染色体隐性或X连锁隐性模式遗传。

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A new hypospadias-mental retardation syndrome in three brothers.三兄弟中出现的一种新的尿道下裂-智力发育迟缓综合征。
Am J Dis Child. 1987 Nov;141(11):1168-9.
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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).一个患有先天性巨结肠、小头畸形和智力发育迟缓(戈德堡-施普林曾综合征)的近亲家族。
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A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness.
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Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot.
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Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.小头畸形与手指异常:一种新发现的隐性遗传性智力障碍综合征。
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Association of hypertelorism and hypospadias--the BBB-syndrome.眼距过宽与尿道下裂的关联——BBB综合征
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Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.三兄弟患有智力和身体发育迟缓、脑积水、小头畸形、内脏畸形、言语障碍及面部异常:穆奇尼克综合征。
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