Osteogenesis imperfecta: multidisciplinary and goal centered care

We describe a case of osteogenesis imperfecta in a late preterm female of 35 weeks gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and for breech with non-reassuring fetal tracing, to emergency cesarean. The clinical exam was concerning for Osteogenesis imperfecta, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopedics, and palliative care were all involved to diagnose and educate the family. Support and education were needed for bedside staff to minimize angst at performing routine care given the high risk of fractures. While initially stable on minimal oxygen, once the diagnosis of Type III Osteogenesis imperfecta was made, a progressively deforming condition with respiratory status decompensation, the family wished to minimize suffering, limited aggressive medical care, and focus on comfort. The infant eventually died from respiratory failure in the neonatal intensive care unit. We present this case to demonstrate the need for an interdisciplinary team approach to support both family and staff in cases of Osteogenesis imperfecta.