Seizures as an atypical feature of beal’s syndrome

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. © 2016,sultan qaboos university. all rights reserved.