Osteogenesis imperfecta: a case report and review of literature
- PMID: 25031897
- PMCID: PMC4083720
- DOI: 10.4103/2141-9248.131683
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.
Keywords: Brittle bone disease and fragile bone disease; Fragilitas ossium; Osteogenesis imperfecta; Osteopetrosis idiopathica.
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References
-
- Smith R. Disorders of the skeleton. In: Weatherall DJ, Ledingham JG, Warrell DA, editors. Oxford Textbook of Medicine. Oxford: Oxford University Press; 1984. pp. 17–25.
-
- Burton BK, Charrow J. Other important single gene disorders. In: Green TP, Franklin WH, Tanz RR, editors. Pediatrics: Just the Facts. Boston: McGraw Hill; 2005. pp. 346–7.
-
- Polousky JD, Eilert RE. Orthopedics. In: Hay WW, Levin MJ, Sondheimer JM, Deterding RR, editors. Current Pediatrics: Diagnosis and Treatment. 19th ed. Vol. 753. New York: McGraw Hill; 2009. pp. 1005–6.
-
- Marini JC. Osteogenesis imperfecta. In: Nelson WE, Behrman RE, Kliegman RM, Arvin AM, editors. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: W.B. Saunders Company; 2007. pp. 2887–90.
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