Abstract
We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week
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
breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical
exam was concerning for OI, and postnatal care was focused on optimizing respiratory
status and minimizing pain and discomfort during routine care. Genetics, endocrine,
orthopaedics, 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 OI was made, a progressively deforming condition
with respiratory status decompensation, the family wished to minimize suffering, limited
aggressive medical care, and focused 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 OI.
Keywords
osteogenesis imperfecta - prematurity - goals of care - multidisciplinary care
