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Bruck syndrome in pregnancy
Shravya Manohar1, Adam Jakes1, Ingrid Watt-Coote2
1Obstetrics and Gynaecology, St George's University Hospitals NHS Foundation Trust, London, UK.
BMJ Case Reports
|September 10, 2024
Summary
Bruck syndrome, a rare genetic disorder, presents challenges in pregnancy. This case highlights a successful pregnancy with Bruck syndrome, emphasizing a multidisciplinary care approach.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Orthopedics
Background:
- Bruck syndrome is a rare autosomal-recessive disorder combining arthrogryposis and osteogenesis imperfecta.
- Characterized by joint contractures, bone fragility, fractures, deformities, and short stature.
- Fewer than 50 cases reported, with no prior pregnancy cases documented.
Observation:
- A successful pregnancy in a woman diagnosed with Bruck syndrome is described.
- This represents the first reported case of pregnancy in an individual with Bruck syndrome.
Findings:
- The case demonstrates the feasibility of a successful pregnancy despite the complexities of Bruck syndrome.
- Highlights the importance of specialized medical management for pregnant individuals with rare genetic conditions.
Implications:
- Suggests that pregnancy may be achievable for women with Bruck syndrome.
- Recommends a multidisciplinary approach involving obstetrics, fetal medicine, genetics, and allied health professionals for optimal outcomes.
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