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获得性脱发、智力发育迟缓、身材矮小、小头畸形和视神经萎缩。

Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.

作者信息

Hennekam R C, Renckens-Wennen E G

机构信息

Clinical Genetics Centre Utrecht, The Netherlands.

出版信息

J Med Genet. 1990 Oct;27(10):635-6. doi: 10.1136/jmg.27.10.635.

DOI:10.1136/jmg.27.10.635
PMID:2246773
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017243/
Abstract

We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases.

摘要

我们报告了一名患有获得性全秃、身材矮小、小头畸形、视神经萎缩、高度近视和智力发育迟缓的女性患者。尽管有各种类似病例，但对已发表报告的调查未能发现相同的患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/274a/1017243/fa7dfc1ad6d3/jmedgene00048-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/274a/1017243/fa7dfc1ad6d3/jmedgene00048-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/274a/1017243/fa7dfc1ad6d3/jmedgene00048-0036-a.jpg

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本文引用的文献

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Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency.
Am J Med Genet. 1982 Dec;13(4):383-7. doi: 10.1002/ajmg.1320130406.
2
A new alopecia/mental retardation syndrome.一种新的脱发/智力发育迟缓综合征。
J Med Genet. 1983 Feb;20(1):64-5. doi: 10.1136/jmg.20.1.64.
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Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.
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Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.
Am J Med Genet. 1984 Oct;19(2):209-16. doi: 10.1002/ajmg.1320190202.
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Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.毛发硫营养不良-波利特神经皮肤综合征：两例非亲缘关系病例报告。
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Helv Paediatr Acta. 1980 Jul;35(3):243-51.
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Atrichia with papular lesions and mental retardation in two sisters.两姐妹患无毛发伴丘疹性皮损及智力发育迟缓。
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Congenital alopecia, seizures, and psychomotor retardation in three siblings.
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[The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report].[GAPO综合征（生长发育迟缓、脱发、假性无牙症、视神经萎缩）。一例新病例报告]
J Genet Hum. 1988 Aug;36(4):373-8.
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Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality.
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