Osteogenesis Imperfecta In A Set Of Nigerian Twins – A Case Report

Osteogenesis imperfecta is a generalized disorder of connective tissue especially the bones and is the commonest cause of osteoporosis and lethal short-limbed dwarfism. We report a case of type II osteogenesis imperfecta in a set of Nigerian monochorionic twins.The twins were female and delivered by emergency caesarean section at term, Twin 1 had a length of 46cm (both below 3 percentile), blue sclera, frog leg like posture, with widened anterior and posterior fontanelles with metopic and sagittal sutural diastases. There were multiple abnormal angulations and tender swellings of the upper and lower limbs, a short ribcage with Pectus excavatum and was dyspnoeic. Skeletal survey showed multiple healed fractures, with callus formation affecting all long bones with fresh unhealed fractures of the left humerus, radius, ulna & right tibia and fibula in the first twin and fractures of the left tibia in the second twin. There was no family history of similar condition and there was no consanguinity. The babies were managed conservatively and discharged for follow up.This is to remind physicians that though Ostegenesis imperfecta can be autosomally and recessively inherited, spontaneous mutations can also occur and that the more lethal types II and III may be commoner in Nigeria.