Bruck syndrome in pregnancy.


Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
10 Sep 2024
Historique:
medline: 11 9 2024
pubmed: 11 9 2024
entrez: 10 9 2024
Statut: epublish

Résumé

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.

Identifiants

pubmed: 39256175
pii: 17/9/e257696
doi: 10.1136/bcr-2023-257696
pii:
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Shravya Manohar (S)

Obstetrics and Gynaecology, St George's University Hospitals NHS Foundation Trust, London, UK.

Adam Jakes (A)

Obstetrics and Gynaecology, St George's University Hospitals NHS Foundation Trust, London, UK.

Ingrid Watt-Coote (I)

Maternal Medicine, St George's University Hospitals NHS Foundation Trust, London, UK.

Asma Khalil (A)

Fetal Medicine, St George's University Hospitals NHS Foundation Trust, London, UK asma.khalil@stgeorges.nhs.uk.

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Classifications MeSH