Seizures as an atypical feature of beal’s syndrome

Nazreen B.K. Jaman, Abeer Al-Sayegh

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)e375-e378
JournalSultan Qaboos University Medical Journal
Volume16
Issue number3
DOIs
Publication statusPublished - Aug 1 2016

Keywords

  • Case report
  • Congenital contractural arachnodactyly
  • Fibrillin-2
  • Marfan syndrome
  • Oman
  • Seizures

ASJC Scopus subject areas

  • Medicine(all)

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