一家系に多発せる骨形成不全症

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  • Six Cases of Osteogenesis Imperfecta in One Family

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Osteogenesis imperfecta has been reported more than 400 cases in Japan. But family cases are rare.<br>Osteogenesis imperfecta is characterized by fragility of bone, deafness, blue scierotics and laxity of joints. We have experienced six cases in one family that consist of a mother, four sons and a granddaughter.<br>Our cases have suffered from fracture from several to about 16 times. Blue scierotics was noticed in two cases of the family. Deafness was noticed in five cases except a granddaughter. Recurrent dislocation of shoulder was noticed in three cases of the family. Dwarfing was watched in all cases. Varus deformities of the femurs are dominant. Scoliosis of the vertebral bodies was in one case, hyperlordosis is in two cases, and kyphosis is in one case. But deformity and functional disturbances of upper extremity were within normal limits in all cases. Serum level of alkaline phosphatase was sightly elevated in one case.

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