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视野缩小是纹状骨病伴颅骨硬化的一种组成表现吗?

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

作者信息

Clementi M, Bellato S, Rossetti A, Mammi I, Tenconi R

机构信息

Dipartimento di Pediatria, Università di Padova, Italy.

出版信息

Am J Med Genet. 1993 Jul 1;46(6):724-6. doi: 10.1002/ajmg.1320460626.

DOI:10.1002/ajmg.1320460626
PMID:8362918
Abstract

A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina.

摘要

一名患有完全表现型条纹状骨病伴颅骨硬化(OS)的女孩还被发现有双侧视野收缩,这是OS综合征中以前从未描述过的体征。我们认为视野缺损是OS综合征的一种组成表现,其发病机制表现为视神经管变形和视神经孔狭窄。

相似文献

1
Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?视野缩小是纹状骨病伴颅骨硬化的一种组成表现吗?
Am J Med Genet. 1993 Jul 1;46(6):724-6. doi: 10.1002/ajmg.1320460626.
2
Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.
Am J Med Genet. 1996 May 3;63(1):68-73. doi: 10.1002/(SICI)1096-8628(19960503)63:1<68::AID-AJMG14>3.0.CO;2-S.
3
[Osteopathia striata with cranial sclerosis].
Rofo. 1994 Sep;161(3):257-9. doi: 10.1055/s-2008-1032533.
4
Osseous changes of osteopathia striata associated with cranial sclerosis. An autosomal dominant entity.与颅骨硬化相关的条纹状骨病的骨质改变。一种常染色体显性遗传病。
Skeletal Radiol. 1980 Feb;5(1):19-22. doi: 10.1007/BF00347093.
5
Osteopathia striata with sclerosis and thickening of the skull.条纹状骨病伴颅骨硬化和增厚
Br J Radiol. 1981 Apr;54(640):344-8. doi: 10.1259/0007-1285-54-640-344.
6
Osteopathia striata with cranial sclerosis.
Rontgenblatter. 1990 Nov;43(11):465-6.
7
Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy.
Eur J Pediatr. 1988 Jan;147(1):101-3. doi: 10.1007/BF00442625.
8
Osteopathia striata with cranial sclerosis affecting three family members.
Skeletal Radiol. 1985;14(4):267-9. doi: 10.1007/BF00352617.
9
Syndrome of osteopathia striata, macrocephaly, and cranial sclerosis.条纹状骨病、巨头畸形和颅骨硬化综合征。
Am J Dis Child. 1984 Sep;138(9):821-3. doi: 10.1001/archpedi.1984.02140470021007.
10
Cranial sclerosis with striated bone disease (osteopathia striata).伴有条纹状骨病(骨纹症)的颅骨硬化症。
Klin Padiatr. 1986 Sep-Oct;198(5):418-24. doi: 10.1055/s-2008-1033900.

引用本文的文献

1
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.女性新生儿肠旋转不良,患有 Osteopathia Striata with Cranial Sclerosis,病因是 AMER1 基因的新发杂合无义突变。
Ital J Pediatr. 2022 Dec 29;48(1):206. doi: 10.1186/s13052-022-01403-6.
2
WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.WTX R353X 突变在伴有骨条纹病和颅硬化(OS-CS)的一家系中的表现:病例报告及对该病临床、遗传和放射学特征的文献复习。
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