Osteogenesis Imperfecta: Multidisciplinary and Goal-Centered Care
Bryston Chang1, Sarah Keating2, Michel Mikhael3
1Department of Pediatrics, University of California Irvine School of Medicine, Irvine, California.
AJP Reports
|October 3, 2022
Summary
This case study highlights osteogenesis imperfecta (OI) in a preterm infant. An interdisciplinary approach is crucial for supporting families and staff managing this fragile condition.
Area of Science:
- Neonatal Medicine
- Medical Genetics
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility.
- Late preterm birth presents unique challenges in neonatal care.
Observation:
- A case of type III OI in a 35-week gestation female infant is presented.
- Maternal history included substance abuse, poor prenatal care, and hypertension.
- Delivery via emergency cesarean due to skeletal dysplasia and fetal distress.
Findings:
- Postnatal care focused on respiratory support, pain management, and fracture prevention.
- A multidisciplinary team (genetics, endocrine, orthopaedics, palliative care) was essential for diagnosis and family education.
- The infant experienced respiratory decompensation and progressive deformities, leading to the family's decision to limit aggressive care.
Implications:
- This case underscores the necessity of an interdisciplinary team approach in managing OI.
- Comprehensive support and education are vital for both families and healthcare staff.
- Palliative care plays a significant role in optimizing comfort and minimizing suffering for infants with severe OI.
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