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Arthrochalasia

Congenital hip dislocation is present in all, as well as severe generalized joint hypermobility with recurrent subluxations, skin hyperextensibility with easy bruising, tissue fragility including atrophic scars, muscle hypotonia, kyphoscoliosis, and radiologically mild osteopenia.

Arthrochalasia Type EDS is caused by mutations leading to deficient processing of the amino-terminal end of proa 1(I) [type A] or proa 2 (I) [type B] chains of collagen type I. Inheritance: Autosomal dominant.

Medical Journal Article: 

“Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.”

 

Click this link below to read entire article:

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

Collagen Diagnostic Laboratory – Arthrochalasia VIIA OR VIIB