Arthrogryposis multiplex congenita in a child with congenital fractures: a case report

dc.contributor.authorDayasiri, K.
dc.contributor.authorJayaweera, H.
dc.date.accessioned2022-10-20T03:08:51Z
dc.date.available2022-10-20T03:08:51Z
dc.date.issued2022
dc.descriptionIndexed in MEDLINE.en_US
dc.description.abstractBackground: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to recurrent respiratory tract infections.Case presentation: The index child was a male newborn to healthy, nonconsanguineous, Sinhalese parents. The child had multiple contractures involving all large joints with pterigium formation in addition to congenital fractures involving left humerus and ulna at birth. The phenotypic features in this child were highly suggestive of Bruck syndrome. Genetic counseling was offered to the parents, although specific genetic testing could not be undertaken due to lack of resources. Bone and skin biopsy were not performed since only palliative care was possible. Over the course, he developed recurrent severe chest infections due to poor muscle tone, weak cough reflex, and pooling of secretions. Unfortunately, he succumbed at the age of 7 months following severe pneumonia.Conclusion: The association of arthrogryposis with osteogenesis imperfecta is extremely rare and known as Bruck syndrome. Early diagnosis during the antenatal period is helpful in genetic counseling, assessment of severity, and exploration of therapeutic options.en_US
dc.identifier.citationJournal of Medical Case Reports.2022;16(1):376.en_US
dc.identifier.issn1752-1947
dc.identifier.urihttp://repository.kln.ac.lk/handle/123456789/25325
dc.language.isoenen_US
dc.publisherBioMed Central, Londonen_US
dc.subjectArthrogryposisen_US
dc.subjectArthrogryposis-complicationsen_US
dc.subjectArthrogryposis-diagnosisen_US
dc.subjectArthrogryposis-genetics
dc.subjectContracture
dc.subjectOsteogenesis Imperfecta
dc.subjectOsteogenesis Imperfecta-complications
dc.subjectOsteogenesis Imperfecta-diagnosis
dc.subjectInfant, Newborn
dc.subjectCase Reports
dc.titleArthrogryposis multiplex congenita in a child with congenital fractures: a case reporten_US
dc.typeCase Reporten_US

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