Osteogenesis imperfecta and pregnancy: a case report

Abstract

Abstract Background Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus. Case presentation We present a case of a 34-year-old, wheelchair-bound, primigravid African (Zimbabwean) patient with short stature and skeletal deformities. Her care, requiring a multidisciplinary team approach, resulted in the delivery of a live baby girl with a birth weight of 2100 g, also with osteogenesis imperfecta. Conclusion Good outcomes are reported when a multidisciplinary team is involved in the care of patients with osteogenesis imperfecta. Pregnancies can be carried to term but require close antenatal surveillance. Prenatal diagnosis is possible with ultrasound and genetic testing. Delivery should be carefully planned by a multidisciplinary team. Decisions on delivery mode should be made on a case-by-case basis.

Keywords

• Osteogenesis imperfecta
• Pregnancy
• Prenatal diagnosis