Multiple Bone Fractures in a Neonate with Osteogenesis Imperfecta: A Case Report

Abstract

Osteogenesis Imperfecta (OI) is characterised by increased bone fractures. It is clinically and genetically a heterozygous disease of connective tissues. OI type 3 is the most severe, non lethal form which is caused by the mutation of caused by mutation of procollagen type1 A1 or A2(COL1A1 or COL1A2) genes. A one-day-old male baby with respiratory distress and multiple limb deformities was presented to the paediatric emergency department. The head appeared unduly large in comparison to the body and the anterior, posterior and lateral fontanelle were wide open. Sclera did not appear blue. Both upper limbs appeared short and stubby with diffuse swelling in the left arm. Both lower limbs appeared curved and were held in a frog-like position. Infantogram showed multiple calvarial fractures in the skull, multiple rib fractures, fracture of left humerus, bilateral ulna, left femur and there were multiple areas with callus formation suggestive of intrauterine fractures. There was no history of trauma during birth. Clinical diagnosis of OI was made and the neonate was managed medically. Genetic analysis could not be done owing to financial constraints. In conclusion, a high index of suspicion and careful clinical and radiological evaluation can identify very rare hereditary abnormalities like OI.