Osteogenesis Imperfecta: A Case Report and Review of Literature
نویسندگان
چکیده
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.
منابع مشابه
Association of Behçet’s Disease with Osteogenesis Imperfecta in A Ten-Year-Old Girl
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. In this article, we present a patient suffering from OI, who had concomitant active Behçet’s Disease(BD)with repeated oro-genital ulcers, skin postular eruptions and severe recurrent bilateral uveitis. This patient, is, to our knowledge the first reported case in ...
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متن کاملOsteogenesis imperfecta type V, spot diagnosis
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عنوان ژورنال:
دوره 4 شماره
صفحات -
تاریخ انتشار 2014