遗传性神经病与遗传性骨骼疾病的关联。
The association of hereditary neuropathies and heritable skeletal disorders.
作者信息
Chattopadhyay A K, Kandler R H, Sharrack B
机构信息
Royal Hallamshire Hospital, Sheffield, UK.
出版信息
Postgrad Med J. 1995 Apr;71(834):245-6. doi: 10.1136/pgmj.71.834.245.
Abstract
We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.
摘要
我们描述了两名患有遗传性神经病与遗传性骨骼疾病关联的患者，这些关联此前未见报道。第一名患者患有马凡综合征和遗传性运动感觉神经病1型。第二名患者患有埃勒斯-当洛综合征、克-费尔综合征和腊肠样神经病。
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The association of hereditary neuropathies and heritable skeletal disorders.遗传性神经病与遗传性骨骼疾病的关联。
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本文引用的文献
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[Charcot-Marie-Tooth disease associated with Klippel-Feil malformation. Report of a case and review of the literature].[与Klippel-Feil畸形相关的夏科-马里-图思病。一例报告及文献复习]
Arq Neuropsiquiatr. 1980 Jun;38(2):193-9. doi: 10.1590/s0004-282x1980000200013.
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Arachnodactyly with unusual neuromyopathic and skeletal abnormalities.具有不寻常神经肌肉和骨骼异常的蜘蛛指（趾）症。
J R Soc Med. 1980 Jan;73(1):64-8. doi: 10.1177/014107688007300116.
3
Ehlers-Danlos in association with tomaculous neuropathy.埃勒斯-当洛综合征合并腊肠样神经病。
Neurology. 1984 Sep;34(9):1270-1. doi: 10.1212/wnl.34.9.1270-a.
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Myopathy associated with Marfan's syndrome. Fine structural and histochemical observations.
Neurology. 1973 Dec;23(12):1257-68. doi: 10.1212/wnl.23.12.1257.
5
[Marfan's disease and familial neuropathy with sausage-shaped swelling. A case of fortuitous association].[马凡氏综合征与伴有腊肠样肿胀的家族性神经病变。一例偶然关联病例]
Rev Neurol (Paris). 1986;142(8-9):703-5.
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Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?埃勒斯-当洛综合征：一种伴有多发性神经病的新型眼脊柱侧弯型？
Clin Genet. 1989 Feb;35(2):121-4. doi: 10.1111/j.1399-0004.1989.tb02916.x.
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