Beyond battered baby syndrome: Neonatal case of osteogenesis imperfecta

An 11-day-old baby boy, first-born dichorionic diamniotic twin from a non-consanguineous marriage, born through vaginal delivery, presented on day 8 with decreased movement of the left lower limb and swelling in the left thigh.The baby had relatively preserved weight and head circumference, normal genitalia, and bowed both legs [Figure 1a].X-ray of the limbs showed generalized osteopenia with multiple long-bone fractures at different stages of healing, callus formation in the left humeral shaft, and a fracture noted in the right humerus [Figure 1b], a left femoral shaft fracture, and bowing of all long bones of the lower limbs [Figure 1c].The antenatal anomaly scan had revealed bilateral femoral bowing.There were no blue sclera and no positive family history.At this point, the possibilities were non-accidental injury (NAI)/battered baby syndrome, osteogenesis imperfecta (OI), hypophosphatasia, and congenital rickets.Investigations revealed normal calcium, phosphorus, and alkaline phosphatase, with vitamin D deficiency.Fundus examination showed no hemorrhagic changes; there was also no rib fracture.To exclude an underlying organic cause, whole-exome sequencing was performed, which revealed a heterozygous pathogenic COL1A1 variant, NM_000088.4:c.1678G>A(p.Gly560Ser).The baby was treated with calcium and vitamin D supplements and was given a Pavlik harness and an arm sling for fracture stabilization.Bisphosphonate therapy was planned following genetic confirmation of diagnosis.OI is a heterogeneous hereditary connective tissue disorder characterized by marked bone fragility, low bone mass, and recurrent skeletal fractures.In most classical cases, the disorder https://ispae-jped.com