Diagnostic Dilemma

Osteogenesis imperfecta

A 4½ years old boy presented with multiple fractures since 1½ months of age. He had fracture in bilateral arms at 1½ months of age without trauma. Second fracture in left leg and right clavicle occurred at 1½ years of age after jumping. At 3½ years of age, he had elbow dislocation after jumping. At 4 years of age he had fracture in right leg along with hairline fracture of right foe after falling down. Parents complain that he feels less pain, has loose teeth and has lost 4 teeth till now inspite of normal dentition. He also has excessive bruisability and bleeding. Birth history and milestones are normal. On examination, he is hyperactive, has blue sclera, flat facies, infantile voice, hyperextensible joints and hypotonia. His weight is 12 kg, height is 97 cm and arm span is 94 cms. His bone dexa scan shows severe osteoporosis.

Is this osteogenesis imperfecta, Ehler Danlos Syndrome or Kabuki Syndrome_?
Expert Opinion :
We considered the diagnosis of Osteogenesis imperfecta in the child. He has been started on bisphosphonates.
Answer Discussion :
deepak goyal
osteogenesis imperfecta
12 years ago
jharna doshi
ehler danlos
12 years ago

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