Seizures as an Atypical Feature of Beal’s Syndrome
Journal Title: Sultan Qaboos University Medical Journal - Year 2016, Vol 16, Issue 3
Abstract
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fbrillin-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 frst report of Beal’s syndrome with seizure symptoms as a potential feature.
Authors and Affiliations
Nazreen B. K. Jaman| Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Abeer Al-Sayegh| Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman
Keywords
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