Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures

Beighton (1981) reported a kindred in which 20 members in at least 3 generations had opalescent teeth, blue sclerae, wormian bones, and normal height. In the 6 affected individuals who had skeletal surveys, moderate generalized osteoporosis was noted; the older individuals had mild flattening and biconcavity of the vertebral bodies. Only 1 affected individual, an adolescent male, had pronounced platybasia and had sustained 10 femoral fractures on mild trauma. Only the proband had hearing loss. No individuals had joint hyperextensibility. It is not known whether the syndrome is the same as OI type I (166200).