Abstract
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal’s syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal’s syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors’ knowledge, this is the first report of Beal’s syndrome with seizure symptoms as a potential feature.
Publication Date
8-19-2016
First Page
375
Last Page
378
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Recommended Citation
Jaman, Nazreen B. K. and Al-Sayegh, Abeer
(2016)
"Seizures as an Atypical Feature of Beal’s Syndrome,"
Sultan Qaboos University Medical Journal: Vol. 16: 375-378.
DOI: https://doi.org/10.18295/squmj.2016.16.03.021
