| Ehlers-Danlos
syndrome
Congenital hip dislocation has been present in all
biochemically proven individuals with this type of Ehlers-Danlos syndrome. Severe generalized joint hypermobility with recurrent subluxations are
seen in individuals with this type of Ehlers-Danlos syndrome.
Other manifestations of this type may include:skin hyperextensibility with easy bruising;
tissue fragility including atrophic scars; muscle hypotonia; Kyphoscoliosis and
radiologically mild osteopenia.
The Arthrochalasia Type is caused by mutations
leading to deficient processing of the amino-terminal end of proa1(I) [type A] or
proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant
manner. A skin biopsy can also diagnose this type of Ehlers-Danlos syndrome |
