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两兄弟的小头畸形和颅内钙化

Microcephaly and intracranial calcification in two brothers.

作者信息

Baraitser M, Brett E M, Piesowicz A T

出版信息

J Med Genet. 1983 Jun;20(3):210-2. doi: 10.1136/jmg.20.3.210.

DOI:10.1136/jmg.20.3.210
PMID:6876113
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049048/
Abstract

Sibs are reported with severe congenital microcephaly, spasticity, and seizures. Both had extensive intracranial calcification.

摘要

据报道，兄弟姐妹患有严重的先天性小头畸形、痉挛和癫痫。两人都有广泛的颅内钙化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/ddc61bffed21/jmedgene00107-0053-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/a0a64441544b/jmedgene00107-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/8cad6c668552/jmedgene00107-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/bbd952c3a017/jmedgene00107-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/ddc61bffed21/jmedgene00107-0053-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/a0a64441544b/jmedgene00107-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/8cad6c668552/jmedgene00107-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/bbd952c3a017/jmedgene00107-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/ddc61bffed21/jmedgene00107-0053-c.jpg

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本文引用的文献

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A syndrome resembling progeria: A review of two cases.一种类似早老症的综合征：两例病例综述。
Arch Dis Child. 1950 Sep;25(123):213-23. doi: 10.1136/adc.25.123.213.
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Microcephaly with extensive calcium deposits and demyelination.小头畸形伴广泛钙沉积和脱髓鞘。
J Neuropathol Exp Neurol. 1954 Apr;13(2):318-29. doi: 10.1097/00005072-195404000-00002.
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Morphological and neurochemical study of Pelizaeus-Merzbacher disease.佩利措伊斯-梅茨巴赫病的形态学与神经化学研究
DNA损伤与修复：导致小头畸形的潜在机制
Front Cell Dev Biol. 2023 Oct 10;11:1268565. doi: 10.3389/fcell.2023.1268565. eCollection 2023.
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A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2).2型假性TORCH综合征（PTORCH2）的病例报告及文献综述
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A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.一例疑似先天性TORCH感染的遗传综合征家族新病例报告；假性TORCH综合征2型
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Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.Aicardi-Goutières 综合征，重点关注婴儿期的超声特征。
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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.
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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。
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9
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10
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J Med Genet. 1991 Oct;28(10):708-11. doi: 10.1136/jmg.28.10.708.
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