title: Osteogenesis imperfecta: a case report and review of literature.
abstract: Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones caused by mutations in collagen. Diagnosis is mainly based on the clinical features of the disorder. We report, the case of a male neonate delivered to a 33-year-old para 2 female at University of Nigeria Teaching Hospital, Enugu with no family history suggestive of OI. He had clinical features of a type II OI and severe birth asphyxia. Multidisciplinary management was instituted, but he died on the 7(th) day of life.
authors.affiliation: Department of Paediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria.
authors.forename: Bo
authors.initials: B
authors.lastname: Edelu
authors.affiliation: Department of Paediatrics, Enugu State University Teaching Hospital, Enugu, Nigeria.
authors.forename: Ik
authors.initials: I
authors.lastname: Ndu
authors.affiliation: Department of Paediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria.
authors.forename: In
authors.initials: I
authors.lastname: Asinobi
authors.affiliation: Department of Paediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria.
authors.forename: Ha
authors.initials: H
authors.lastname: Obu
authors.affiliation: Department of Paediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria.
authors.forename: Gn
authors.initials: G
authors.lastname: Adimora
keywords: Brittle bone disease and fragile bone disease; Fragilitas ossium; Osteogenesis imperfecta; Osteopetrosis idiopathica