What is the most likely diagnosis in a neonate with multiple, healed fractures of long bones?
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 the 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 counterpart of rickets. Osteopetrosis is characterised by dense but brittle bones(marble bones) with a tendency to fracture.
Osteomalacia
Osteogenesis imperfecta
Osteopetrosis
Congenital rickets