Abstract
Three year old girl child born out of non consanguious marriage,
4th by birth order presented with sever respiratory distress and was
unable to walk since the age of 1.5 years due to multiple recurrent
fractures following minor trauma. Her 3 siblings died due to similar
complaint. On examination she was malnourished, frontal bossing
was present, oral examination dentition normal, sever respiratory
distress with b/l crepitations and gallop rhythm heard. X-ray long
bones showed multiple fractures with osteopenia. 2d echo-suggestive
of dilated cardiomyopathy with cardiac failure. Results: Based on
clinical examination and radiological features, and on ruling out other
differentials: metabolic bone disease,fanconi syndrome,child abuse
diagnosis is osteogenesis imperfecta.
Keywords: Osteogenesis imperfect; Recurrent fractures; Dilated
cardiomyopathy.