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 details
- DOI
- 10.18295/squmj.2016.16.03.021
- Journal
- Sultan Qaboos University Medical Journal, 16(3), 375-378
- Publisher
- Sultan Qaboos University
- Open access
- Gold open access
- License
- CC BY-ND 4.0
Cite this article
APA 7
Jaman, N. B., & Al-Sayegh, A. (2025). Seizures as an Atypical Feature of Beal’s Syndrome. Sultan Qaboos University Medical Journal, 16(3), 375-378. https://doi.org/10.18295/squmj.2016.16.03.021
MLA 9
Jaman, Nazreen BK, and Abeer Al-Sayegh. "Seizures as an Atypical Feature of Beal’s Syndrome." Sultan Qaboos University Medical Journal, vol. 16, no. 3, 2025, pp. 375-378. https://doi.org/10.18295/squmj.2016.16.03.021.
Chicago (author–date)
Jaman, Nazreen BK, and Abeer Al-Sayegh. 2025. "Seizures as an Atypical Feature of Beal’s Syndrome." Sultan Qaboos University Medical Journal 16 (3): 375-378. https://doi.org/10.18295/squmj.2016.16.03.021.
Harvard
Jaman, N. B. and Al-Sayegh, A. (2025) 'Seizures as an Atypical Feature of Beal’s Syndrome', Sultan Qaboos University Medical Journal, 16(3), pp. 375-378. doi:10.18295/squmj.2016.16.03.021.
Vancouver
Jaman NB, Al-Sayegh A. Seizures as an Atypical Feature of Beal’s Syndrome. Sultan Qaboos University Medical Journal. 2025;16(3):375-378. doi:10.18295/squmj.2016.16.03.021
IEEE
N. B. Jaman, and A. Al-Sayegh, "Seizures as an Atypical Feature of Beal’s Syndrome," Sultan Qaboos University Medical Journal, vol. 16, no. 3, pp. 375-378, 2025, doi: 10.18295/squmj.2016.16.03.021.