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What is What is the most likely diagnosis in neonate with multiple, healed fractures of long bones ? and explain in detail?
*Osteogenesis imperfecta (Fragilitas ossium, Vrolik&;s disease) is a condition characterised by frequent fractures (which unite normally) because of weak and brittle bones resulting from defective collagen synthesis.* It is commonly inherited as an autosomal dominant disorder. It also affects skin, sclera, teeth, ligaments etc. leading to blue sclera, joint laxity and otosclerosis in adulthood. *Rickets is characterised by failure of mineralisation , seen prominently at the growth plates, resulting in softening of the bones and development of deformities. *Osteomalacia is the adult counterpa of rickets.* Osteopetrosis is characterised by dense but brittle bones(marble bones) with a tendency to fracture. Reference : page 316-17, 310-12 Essential Ohopaedics Maheshwari and Mhaskar 6 th edition