Osteogenesis Imperfecta. A case report

Abstract

Introduction: Osteogenesis imperfecta (OI) is a rare genetic disease mainly caused by a dominant mutation in COL1A1 y COL1A2 collagen type I genes which codes for collagen type I alpha chains. The OI may also be the result of recessive mutations in other genes. Its clinical spectrum that goes from milder form to lethal perinatal forms. Clinical diagnosis might be established in a patient that presents repeated fractures, blue scleras, short stature, teething disorders and deafness. Case report: The patient was 24 years old, third gestation, with an obstetric history of a dead child with osteogenesis imperfecta, who was supervised and controlled in a public institution. Several laboratory tests corroborated that the current gestation presented osteogenesis imperfecta, thus, a surgical procedure was scheduled at 38.2 weeks of gestation. During the transoperative period, we found the newborn, with the described characteristics, alive. The child was admitted to the neonatology service, where we confirmed multiple fractures in extremities and thorax. In view of this reserved prognosis, she died within 24 hours due to pulmonary complications. Conclusions: An early diagnosis within the first three months of pregnancy is essential in order to establish a prognosis and timely treatment whenever it is necessary.

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