Dermal disorders

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