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?
Osteopetrosis
Achondroplasia
Pyknodysostosis
Osteogenesis imperfecta
Osteogenesis imperfecta Most common genetic cause of osteoporosis Types I -V a Autosomal dominant disorder Etiopathogenesis: Mutations in COL1A1 or COL1A2 that code for type I collagen Structural or quantitative defects in type I collagen Connective tissue abnormalities in bones, teeth, skin & eyes Clinical features: Triad - Blue sclera - Deafness - Recurrent Fractures Rx - I/v Bisphosphonates eg Pamidronate
Paediatrics