A 2-year-old boy presents with his third bone fracture within the past several months. There is no history or evidence of trauma. Several close family members have been similarly affected. 2 of the affected family members are also hard of hearing. The child is small for his age, and the sclerae are tinged a bluish color. Radiographs reveal generalized osteopenia and evidence of multiple fractures, both old and new. What is the most probable diagnosis?
A 2-year-old boy presents with his third bone fracture within the past several months. There is no history or evidence of trauma. Several close family members have been similarly affected. 2 of the affected family members are also hard of hearing. The child is small for his age, and the sclerae are tinged a bluish color. Radiographs reveal generalized osteopenia and evidence of multiple fractures, both old and new. What is the most probable diagnosis?
💡 Explanation
A 2-year-old boy presents with his third bone fracture within the past several months. There is no history or evidence of trauma. Several close family members have been similarly affected. 2 of the affected family members are also hard of hearing. The child is small for his age, and the sclerae are tinged a bluish color. Radiographs reveal generalized osteopenia and evidence of multiple fractures, both old and new. What is the most probable diagnosis?
✓ Correct Answer: D. Osteogenesis imperfecta
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