两名患有小头畸形并伴有脑白质钙化的兄弟姐妹。 - Suppr

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Two siblings with microcephaly associated with calcification of cerebral white matter.

作者信息

Ishitsu T, Chikazawa S, Matsuda I

出版信息

Jinrui Idengaku Zasshi. 1985 Sep;30(3):213-7. doi: 10.1007/BF01876471.

DOI:10.1007/BF01876471

PMID:3834201

Abstract

摘要

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Two siblings with microcephaly associated with calcification of cerebral white matter.两名患有小头畸形并伴有脑白质钙化的兄弟姐妹。

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Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.伴有脑内钙化、白质病变、生长激素缺乏、小头畸形和视网膜变性的脑病：两例同胞病例证实可能是一种独特的疾病实体。

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Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.常染色体隐性先天性宫内感染样综合征，表现为小头畸形、颅内钙化和中枢神经系统疾病。

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Instructive cases from genetics. 2.遗传学中的典型案例。2.

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[Leukodystrophy with strio-cerebellar calcification, microcephaly and dwarfism].伴有纹状体小脑钙化、小头畸形和侏儒症的脑白质营养不良

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引用本文的文献

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.与短肋多指综合征III和先天性感染样综合征相关的复杂近亲关系：畸形综合征中的一个诊断问题。

J Med Genet. 1999 Jun;36(6):461-6.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.艾卡迪-古铁雷斯综合征表现出遗传异质性，其中一个基因座（AGS1）位于3号染色体的p21区域。

Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25.

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).艾卡迪-古铁雷斯综合征（家族性早发性脑病伴基底节钙化和慢性脑脊液淋巴细胞增多症）

J Med Genet. 1995 Nov;32(11):881-4. doi: 10.1136/jmg.32.11.881.

J Med Genet. 1991 Oct;28(10):708-11. doi: 10.1136/jmg.28.10.708.

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