Abstract

Osteogenesis imperfecta is a heritable disorder of connective tissue, affecting both bone and soft tissue. It is characterized by multiple fractures, bone deformities, short stature, ligament laxity, bluish sclera, among others. We present a monogamous family with two affected consecutive siblings, aged 5 and 3 years respectively, and a third sibling, three days old, who is unaffected.

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