Osteogenesis imperfecta: a case report

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


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.


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

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Marini JC. Osteogenesis Imperfecta. In: Behrman RE, Kliegman RM, Nina FS, Joseph WS, editors. Nelson Textbook of Pediatrics, 20th ed. Philadelphia: WB Saunders, 2011:3380-3384.

Mondal RK, Mann U, Sharma M. Osteogenesis Imperfecta with bleeding diathesis. Indian J Pediatr. 2003;70(1):95-6.

Maasalu K, Haviko T, Martson A. Treatment of children with Osteogenesis Imperfecta in Estonia. Acta Pediatr. 2003;92(4):452-5.

Marini JC, Hopkins E, Glorieux FH, et al. Positive linear growth and bone responses to growth hormone treatment in children with types III and IV Osteogenesis Imperfecta: High predictive value of the carboxy terminal propeptide of type I procollagen. J Bone Mineer Res. 2003;18(2):237-43.

Parilla BV, Leeth EA, Kambick MP, Chilis P, MacGregor SN. Antenatal detection of skeletal dysplasias. J Ultrasound Med. 2003;22(3):255-8.

Teng SW, Guo WY, Sheu MH, Wang PH. Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfect type II: a case report. Clin Imaging. 2003;27(1):55-8.

John BM, Patnaik SK, Thergaonkar RW. Multiple Fractures in Neonates and Osteogenesis Imperfecta. MJAFI 2006;62(1): 73-4.