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.

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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
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article

Bruck syndrome in pregnancy

Asma Khalil, Shravya Manohar, Ingrid Watt‐Coote, Adam D Jakes
1 citations
BMJ Case Reports
Connective tissue disorders research
0.55
article

Bruck syndrome in pregnancy

Asma Khalil, Shravya Manohar, Ingrid Watt‐Coote, Adam D Jakes
article en
1 citations

Abstract

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.

BMJ Case ReportsVol. 17(9)
St George’s University Hospitals NHS Foundation Trust (GB)
Good health and well-being
Openalex Percentile: Top 26%
Connective tissue disorders research
0.55
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