Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Rodney K. Beals; Richard G. Weleber

doi:10.1002/ajmg.a.30289

Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Rodney K. Beals, Richard G. Weleber

Ophthalmology

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.

Original language	English (US)
Pages (from-to)	67-70
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	131 A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.30289
State	Published - Nov 15 2004

Keywords

Arthrogryposis
Distal arthrogryposis 5
Dominant hand contractures
Ophthalmoplegia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia",

abstract = "A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.",

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AB - A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.

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KW - Ophthalmoplegia

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Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Abstract

Keywords

ASJC Scopus subject areas

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