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Bruck syndrome in pregnancy.

Authors :
Manohar S
Jakes A
Watt-Coote I
Khalil A
Source :
BMJ case reports [BMJ Case Rep] 2024 Sep 10; Vol. 17 (9). Date of Electronic Publication: 2024 Sep 10.
Publication Year :
2024

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.<br />Competing Interests: Competing interests: None declared.<br /> (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Details

Language :
English
ISSN :
1757-790X
Volume :
17
Issue :
9
Database :
MEDLINE
Journal :
BMJ case reports
Publication Type :
Academic Journal
Accession number :
39256175
Full Text :
https://doi.org/10.1136/bcr-2023-257696