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Case Reports
. 2014 Mar;4(Suppl 1):S1-5.
doi: 10.4103/2141-9248.131683.

Osteogenesis imperfecta: a case report and review of literature

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Case Reports

Osteogenesis imperfecta: a case report and review of literature

Bo Edelu et al. Ann Med Health Sci Res. 2014 Mar.

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.

Keywords: Brittle bone disease and fragile bone disease; Fragilitas ossium; Osteogenesis imperfecta; Osteopetrosis idiopathica.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
The newborn while on admission

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