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) |
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Pages (from-to) | 67-70 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 131 A |
Issue number | 1 |
DOIs | |
State | Published - Nov 15 2004 |
Keywords
- Arthrogryposis
- Distal arthrogryposis 5
- Dominant hand contractures
- Ophthalmoplegia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)