Manohar, S; Jakes, A; Watt-Coote, I; Khalil, A
(2024)
Bruck syndrome in pregnancy.
BMJ Case Rep, 17 (9).
e257696.
ISSN 1757-790X
https://doi.org/10.1136/bcr-2023-257696
SGUL Authors: Khalil, Asma
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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.
Item Type: | Article |
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Additional Information: | © BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/. |
Keywords: | Anaesthesia, Pregnancy, Humans, Female, Pregnancy, Arthrogryposis, Osteogenesis Imperfecta, Adult, Pregnancy Complications, Abnormalities, Multiple, Pregnancy Outcome, Malignant Hyperthermia, Skin Abnormalities, Humans, Osteogenesis Imperfecta, Arthrogryposis, Pregnancy Complications, Abnormalities, Multiple, Skin Abnormalities, Malignant Hyperthermia, Pregnancy Outcome, Pregnancy, Adult, Female, 1103 Clinical Sciences |
Journal or Publication Title: | BMJ Case Rep |
ISSN: | 1757-790X |
Language: | eng |
Publisher License: | Creative Commons: Attribution-Noncommercial 4.0 |
PubMed ID: | 39256175 |
Go to PubMed abstract | |
URI: | https://openaccess.sgul.ac.uk/id/eprint/116836 |
Publisher's version: | https://doi.org/10.1136/bcr-2023-257696 |
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