Abstract
We present two unrelated individuals with complete deficiency of tenascin-X, resulting in an autosomal recessive form of Ehlers-Danlos syndrome (EDS). Consistent with the original description of tenascin-X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. Unlike classical EDS they did not have atrophic scarring or poor wound healing. Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease.
Original language | English (US) |
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Pages (from-to) | 75-80 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 135 A |
Issue number | 1 |
DOIs | |
State | Published - May 15 2005 |
Keywords
- Cutis laxa
- Diverticular disease
- Ehlers-Danlos syndrome
- Mitral valve
- Obstructive airway disease
- Tenascin-X
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)