Article
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
The Journal of bone and joint surgery. American volume - 1 Feb 1999
Giunta C, Superti-Furga A, Spranger S, Cole W G, Steinmann B
Abstract excerpt
We evaluated the clinical features, molecular defects, and problems associated with the management of two patients who had type-VII Ehlers-Danlos syndrome and reviewed the cases of eighteen patients with this condition who had been reported on previously. The typical clinical features associated with this syndrome include bilateral congenital dislocation of the hip; severe generalized hypermobility of the joints;...
Topics
- Adult
- Alleles
- Diagnosis, Differential
- Ehlers-Danlos Syndrome
- Hip Dislocation, Congenital
- Humans
- Infant
- Male
- Mutation
- Procollagen
- Surgical Procedures, Operative
