Yes: Careful family history, physical exam, echocardiogram if indicated, skin biopsy for collagen typing, collagen gene mutation testing and lysyl hydroxylase or lysyl oxidase activity.
Answered 1/5/2019
6.1k views
Yes.: Both clinical exam and genetic testing needed.. A good pediatrician or geneticist are most likely to diagnose this, since presentation is early. I personally would see a geneticist if this diagnosis is in question. The hypermobility of joints leads to accelerated arthritis, ie. Osteoarthritis, and sprains.
Answered 12/9/2013
5.6k views
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