SORA

Advancing, promoting and sharing knowledge of health through excellence in teaching, clinical practice and research into the prevention and treatment of illness

Bruck syndrome in pregnancy.

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

[img]
Preview
PDF Published Version
Available under License Creative Commons Attribution Non-commercial.

Download (346kB) | Preview

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
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
Dates:
DateEvent
10 September 2024Published
13 April 2024Accepted
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

Statistics

Item downloaded times since 30 Sep 2024.

Actions (login required)

Edit Item Edit Item