Microcephaly and intracranial calcification in two brothers.

Suppr

超能文献

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

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5900/1049048/a0a64441544b/jmedgene00107-0052-a.jpg

相似文献

Microcephaly and intracranial calcification in two brothers.

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

Microcephaly and intracranial calcification: two new cases.

Clin Genet. 1997 Feb;51(2):142-3. doi: 10.1111/j.1399-0004.1997.tb02443.x.

Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.

Am J Med Genet. 1999 Jun 4;84(4):330-3.

A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection.

Clin Genet. 1986 Aug;30(2):112-6. doi: 10.1111/j.1399-0004.1986.tb00578.x.

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

Am J Med Genet. 1994 Aug 1;52(1):58-65. doi: 10.1002/ajmg.1320520112.

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

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

Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

J Med Genet. 1986 Apr;23(2):157-60. doi: 10.1136/jmg.23.2.157.

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.

Am J Med Genet A. 2014 Jun;164A(6):1614-7. doi: 10.1002/ajmg.a.36485. Epub 2014 Mar 25.

Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

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

Arterial medial calcification of infancy in brothers.

Can Med Assoc J. 1970 Aug 1;103(3):290-3.

引用本文的文献

USP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes.

Cureus. 2025 Sep 10;17(9):e91952. doi: 10.7759/cureus.91952. eCollection 2025 Sep.

A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.

Mol Syndromol. 2025 Aug;16(4):366-373. doi: 10.1159/000542145. Epub 2024 Nov 27.

DNA damage and repair: underlying mechanisms leading to microcephaly.

Front Cell Dev Biol. 2023 Oct 10;11:1268565. doi: 10.3389/fcell.2023.1268565. eCollection 2023.

A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2).

Case Rep Pediatr. 2022 Oct 22;2022:3555532. doi: 10.1155/2022/3555532. eCollection 2022.

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.

J Reprod Infertil. 2022 Apr-Jun;23(2):135-138. doi: 10.18502/jri.v23i2.8999.

Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.

Pediatr Radiol. 2012 Aug;42(8):932-40. doi: 10.1007/s00247-012-2384-4. Epub 2012 May 26.

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

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

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

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

Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

J Med Genet. 1986 Apr;23(2):157-60. doi: 10.1136/jmg.23.2.157.

Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

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

本文引用的文献

A syndrome resembling progeria: A review of two cases.

Arch Dis Child. 1950 Sep;25(123):213-23. doi: 10.1136/adc.25.123.213.

Microcephaly with extensive calcium deposits and demyelination.

J Neuropathol Exp Neurol. 1954 Apr;13(2):318-29. doi: 10.1097/00005072-195404000-00002.

Morphological and neurochemical study of Pelizaeus-Merzbacher disease.

J Neurol Neurosurg Psychiatry. 1965 Dec;28(6):540-7. doi: 10.1136/jnnp.28.6.540.

Cockayne's syndrome: case report.

J Neurol Neurosurg Psychiatry. 1971 Apr;34(2):171-8. doi: 10.1136/jnnp.34.2.171.

Congenital malformation of the central nervous system associated with genital type (type 2) herpesvirus.

J Pediatr. 1969 Jul;75(1):13-8. doi: 10.1016/s0022-3476(69)80096-x.

Necropsy of original case of Lowry's syndrome.

J Med Genet. 1978 Jun;15(3):227-9. doi: 10.1136/jmg.15.3.227.

Cockayne syndrome: unusual neuropathological findings and review of the literature.

Ann Neurol. 1979 Oct;6(4):340-8. doi: 10.1002/ana.410060407.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验