Author/Authors :
afilal, saloua université mohammed v - hôpital al ayachi, faculté de médecine et de pharmacie de rabat - service de rhumatologie b, Rabat, Morocco , rkain, hanan université mohammed v - hôpital al ayachi, faculté de médecine et de pharmacie de rabat - service de rhumatologie b, laboratoire de physiologie, Rabat, Morocco , tahiri, latifa université mohammed v - hôpital al ayachi, faculté de médecine et de pharmacie de rabat - service de rhumatologie b, Rabat, Morocco , alami, nada université mohammed v - hôpital al ayachi, faculté de médecine et de pharmacie de rabat - service de rhumatologie b, Rabat, Morocco , allali, fadoua université mohammed v - hôpital al ayachi, faculté de médecine et de pharmacie de rabat - service de rhumatologie b, Rabat, Morocco
Abstract :
Osteogenesis imperfecta is a rare genetic disorder caused by monoallelic mutations in the collagen type 1 gene. It associates highly variable skeletal and extra-skeletal manifestations. Repeated spontaneous fractures resulting from bone fragility are the major symptom of diagnosis. We report the case of a 2-year-old child with osteogenesis imperfecta presenting recurrent bone fractures since birth. The clinical examination included dentinogenesis imperfecta, sequential bone deformities at fractures and spinal scoliosis. The patient was treated parenterally with bisphosphonates. The evolution was marked by a clear decrease in the frequency of fractures. Centromedullary nailing is planned after three courses of bisphosphonates.
