Bruck syndrome in pregnancy
Bruck syndrome is a rare, autosomal-recessive condition associated with features of both arthrogryposis and osteogenesis imperfecta. It is characterised by congenital large joint contractures with pterygia and bone fragility, leading to fractures and deformities, along with a short stature caused by progressive skeletal deformities. There are fewer than 50 described cases of Bruck syndrome in the literature, with no reported cases in pregnancy. We describe a case of a successful pregnancy in a woman with Bruck syndrome.In pregnant women with Bruck syndrome, we recommend a multidisciplinary approach including input from obstetric and fetal medicine specialists, midwives, anaesthetists, geneticists, occupational therapists and physiotherapists.
Authors
- Asma Khalil
- Shravya Manohar
- Ingrid Watt‐Coote
- Adam D Jakes (ORCID: https://orcid.org/0000-0003-0943-8618)
Institutions
- St George’s University Hospitals NHS Foundation Trust (GB)
Publication Details
- Journal
- BMJ Case Reports
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1136/bcr-2023-257696
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.55