Osteogenesis Imperfecta (OI)- AD/AR, mutation in type I collagen gene (a 1 and a 2 chains)
- Decreased elasticity, easy bruising, hearing loss secondary to otosclerosis, mitral valve prolapse
- Type I: fractures, bowing, kyphoscoliosis
- Type II (severe): beaded ribs, crumpled humeri, abducted thighs
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