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.
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Selected References
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- Barrison I. G., Isenberg D. A., Kane S. P. Arachnodactyly with unusual neuromyopathic and skeletal abnormalities. J R Soc Med. 1980 Jan;73(1):64–68. doi: 10.1177/014107688007300116. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Eymard B., Tomé F. M., Brunet P., Fardeau M. Maladie de Marfan et neuropathie tomaculaire familiale. Un cas d'association fortuite. Rev Neurol (Paris) 1986;142(8-9):703–705. [PubMed] [Google Scholar]
- Farag T. I., Schimke R. N. Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy? Clin Genet. 1989 Feb;35(2):121–124. doi: 10.1111/j.1399-0004.1989.tb02916.x. [DOI] [PubMed] [Google Scholar]
- Goebel H. H., Muller J., DeMyer W. Myopathy associated with Marfan's syndrome. Fine structural and histochemical observations. Neurology. 1973 Dec;23(12):1257–1268. doi: 10.1212/wnl.23.12.1257. [DOI] [PubMed] [Google Scholar]
- Schady W., Ochoa J. Ehlers-Danlos in association with tomaculous neuropathy. Neurology. 1984 Sep;34(9):1270–1271. doi: 10.1212/wnl.34.9.1270-a. [DOI] [PubMed] [Google Scholar]
- Viegas C. A. Doença de Charcot-Marie-Tooth associada à malformaço de Klippel-Feil. Registro de um caso e revisao da literatura. Arq Neuropsiquiatr. 1980 Jun;38(2):193–199. doi: 10.1590/s0004-282x1980000200013. [DOI] [PubMed] [Google Scholar]