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家族性脊髓空洞症。

Familial syringomyelia.

作者信息

Busis N A, Hochberg F H

出版信息

J Neurol Neurosurg Psychiatry. 1985 Sep;48(9):936-8. doi: 10.1136/jnnp.48.9.936.

DOI:10.1136/jnnp.48.9.936
PMID:4045487
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1028499/
Abstract

A woman with syringobulbia and syringomyelia and her sister with syringomyelia are described. The diagnosis was confirmed radiologically and surgically in the first sister and no other definite abnormalities of her craniocervical junction were found.

摘要

本文描述了一名患有延髓空洞症和脊髓空洞症的女性及其患有脊髓空洞症的妹妹。首例患者的诊断经影像学和手术证实，且未发现其颅颈交界区有其他明确异常。

相似文献

1
Familial syringomyelia.家族性脊髓空洞症。
J Neurol Neurosurg Psychiatry. 1985 Sep;48(9):936-8. doi: 10.1136/jnnp.48.9.936.
2
Familial syringomyelia: a report of four cases.
Arch Psychiatr Nervenkr (1970). 1977 Dec 28;224(4):331-40. doi: 10.1007/BF00341615.
3
[Discordant syringomyelia twins in familial syringomyelia].
Nervenarzt. 1986 Jul;57(7):422-6.
4
Familial syringomyelia in two siblings: case report.
Turk Neurosurg. 2007 Oct;17(4):251-4.
5
Familial syringomyelia.家族性脊髓空洞症。
J Neurol Neurosurg Psychiatry. 1975 Apr;38(4):346-9. doi: 10.1136/jnnp.38.4.346.
6
[4 cases of familial syringomyelia in a single generation].
Zh Nevropatol Psikhiatr Im S S Korsakova. 1976;76(5):662-5.
7
Three sisters with Chiari I malformation with and without associated syringomyelia.
Pediatr Neurosurg. 2007;43(6):533-8. doi: 10.1159/000108803.
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A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.一种与 Chiari I 型畸形和脊髓空洞症相关的 Crouzon 综合征中的新型成纤维细胞生长因子受体 2 突变。
J Neurosurg. 2002 Aug;97(2):396-400. doi: 10.3171/jns.2002.97.2.0396.
9
[Hereditary features of syringomyelia].
Zh Nevropatol Psikhiatr Im S S Korsakova. 1969;69(10):1509-14.
10
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature.两例患有脊髓空洞症的家族性 Chiari I 型畸形：病例报告及文献综述
Childs Nerv Syst. 2005 Nov;21(11):955-9. doi: 10.1007/s00381-005-1146-0. Epub 2005 Apr 9.

引用本文的文献

1
Familial syringomyelia: case report and review of the literature.家族性脊髓空洞症：病例报告及文献综述
Ital J Neurol Sci. 1993 Dec;14(9):637-9. doi: 10.1007/BF02339249.

本文引用的文献

1
[An unusual combination of two neurological diseases].[两种神经系统疾病的罕见组合]
Wien Z Nervenheilkd Grenzgeb. 1958;15(1-4):361-9.
2
Familial syringomyelia with mental impairment.伴有智力障碍的家族性脊髓空洞症。
J R Army Med Corps. 1982 Feb;128(1):41-2. doi: 10.1136/jramc-128-01-07.
3
Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations.一个家族中的枕骨发育异常和 Chiari I 型畸形：三代人的临床和放射学研究
J Neurol Sci. 1983 Dec;62(1-3):147-58. doi: 10.1016/0022-510x(83)90195-8.
4
Nuclear magnetic resonance imaging of syringomyelia.脊髓空洞症的核磁共振成像
AJNR Am J Neuroradiol. 1983 May-Jun;4(3):234-7.
5
Craniovertebral junction pathology: assessment by NMR.颅颈交界区病变：核磁共振成像评估
AJNR Am J Neuroradiol. 1983 May-Jun;4(3):232-3.
6
Recombinant DNA strategies in genetic neurological diseases.遗传性神经疾病中的重组DNA策略
Muscle Nerve. 1983 Jun;6(5):339-55. doi: 10.1002/mus.880060503.
7
Nuclear magnetic resonance (NMR) imaging of Arnold-Chiari type I malformation with hydromyelia.伴脊髓空洞症的Ⅰ型阿诺德－基亚里畸形的核磁共振成像
J Comput Assist Tomogr. 1983 Feb;7(1):126-9. doi: 10.1097/00004728-198302000-00022.
8
[The heredity of syringomyelia].[脊髓空洞症的遗传]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1970;70(9):1281-6.
9
[Hereditary features of syringomyelia].
Zh Nevropatol Psikhiatr Im S S Korsakova. 1969;69(10):1509-14.
10
Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci.强直性肌营养不良位点与ABH分泌型及路德血型位点之间的遗传连锁得到证实。
Am J Hum Genet. 1972 May;24(3):310-6.