Osteogenesis imperfecta in Cameroonese children.

Few data are available on osteogenesis imperfecta (OI) in Cameroonese children. Five cases were identified by a medical chart review of all patients admitted to the Yaounde Teaching Hospital pediatrics department over a six-year period. All five patients had a full clinical examination including a prenatal history and a family history, a radiographic skeletal survey, and a battery of laboratory tests. Genetic studies were not performed. The criteria of Maroteaux and of Sillence et al. were used for diagnosis and classification. According to the Sillence classification, one patient had type I OI, two had type II OI, and two had type III OI. The three girls and two boys were aged one day to six years at diagnosis. Two were born prematurely and one of those born at full term was small-for-dates. None had a family history of OI and none were born to consanguineous parents. Fractures and deformities were the most conspicuous manifestations in every case. Two patients also had recurrent infections and blue sclerae. Radiographs consistently showed multiple fractures with calluses at different stages of development, deformities, and shortening of some limb segments. Hydrocephalus was diagnosed by cerebral ultrasonography in one case. Two patients died, one was lost to follow-up, and the remaining two are alive with skeletal deformities. OI exists in Cameroon, mainly as a sporadic disease. Clinical manifestations are similar to those seen elsewhere.