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Published:
Feb 24, 2015Keywords:
Brittle bone disease and fragile bone disease Fragilitas ossium Osteogenesis imperfecta Osteopetrosis idiopathica
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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 7th day of life.
Keywords: Brittle bone disease and fragile bone disease, Fragilitas ossium, Osteogenesis imperfecta, Osteopetrosis idiopathica
