Report of the favorable pregnancy outcomes in an FKBP10-related Bruck syndrome case and a narrative review of pregnancy in severe osteogenesis imperfecta.

backgroundOsteogenesis imperfecta (OI) is a genetic syndrome that affects skeletal and connective tissues. OI type XI, also known as Bruck syndrome, is an extremely rare autosomal recessive disorder characterized by symptoms of severe OI, along with additional features. Despite the fact that patients with severe OI can survive into adulthood and have preserved fertility, only a few case reports have been published about pregnancy complications in Bruck syndrome. CASE REPORT AND NARRATIVE REVIEW: We report a case of maternal FKBP10-related Bruck syndrome, along with details of antenatal care, delivery strategy, and intrapartum and postpartum care. The patient had been diagnosed with severe OI with lower-limb contractures and deformities since childhood. She conceived spontaneously, received antenatal care, and delivered with favorable outcomes for mother and infant. We then review the cases of pregnant women with severe OI, particularly Bruck syndrome, reported in medical databases. Eighteen reports, describing 20 pregnant women with severe OI, with 21 pregnancies, including ours, were identified and summarized, but these included only one case of maternal Bruck syndrome. In all cases, the fetus was successfully delivered by cesarean section with a high incidence (85%) of preterm delivery and low birthweight (mean: 1,520 g, range: 650 – 2,950).

conclusionPregnancy with maternal Bruck syndrome, as reported here, can achieve favorable obstetric outcomes under vigorous care provided by a multidisciplinary team. Simulation for emergency delivery for many adverse peripartum circumstances might be anticipated and planned for.