ABSTRACT
Osteogenesis Imperfecta is a genetic disorder of the connective tissue leading to generalised osteoporosis, fragility of the skeletal system and susceptibility to fractures of the long bones and compression of the vertebrae from mild or inconsequential trauma. It is one of the rare diseases known to mankind. It has no definitive cure and treatment is essentially supportive. We present below a preterm male neonate who was seen 5-hours after birth with abnormal posturing, abnormal shape of the head and limbs. There was a positive family history of delivery of a baby with similar history and outcome. A skeletal survey revealed multiple fractures involving the clavicle, humerus, femur, tibia and fibula. He was managed as a case of Osteogenesis Imperfecta. This was the first case out of 1,445 newborns admitted into the Unit. He was discharged after 2-weeks of hospitalisation but died at 6-weeks of age following progressively worsening episodes of respiratory distress.
