DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20193756

Osteogenesis imperfecta: a case report

Kambiakdik T., Inderpreet Sohi, Toli Nyorak, Pawam Kumar Kumar, Sengseng R. Sangma, Zosangliani .

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 a late preterm a male neonate born to a 20 years old primigravida. He had clinical features of a type II OI and severe birth asphyxia.


Keywords


Alkaline phosphatase, Bluish sclera, Fragile bones, Osteogenesis Imperfecta, Wormian bones

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References


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