Osteogenesis imperfecta

case report

Abstract

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue due to quantitative and qualitative abnormalities of collagen type I. It is characterized by bone fragility and it has very different clinical manifestations, being genetically transmitted by autosomal dominant or recessive gene. We report the case of a 29-year-old patient with a history of three pregnancies, with a caesarean and one first trimester abortion. It was observed at 32 weeks after an obstetric US, the shortening of long right (OI) bones. Held fetal karyotype (46, XX) that showed no chromosomal alteration. On examination (amniocentesis) revealed a fractured right femur. The prenatal course was uneventful. She underwent elective cesarean section at 38 weeks + 5 days and delivered a single living newborn, in a cephalic presentation, female, with polydactyly on the left, syndactyly on the right hand and lower limb shortened, Apgar 8/9, weight 2770g, being referred to NICU for observation, presenting a good condition. Rx was conducted in which consolidation of the right femur fracture was observed. Newborn was discharged two days in good general condition, uneventful, with a follow up orthopedic and pediatric segment.