Seizures as an atypical feature of beal’s syndrome
Other Title(s)
نوبات التشنج سمة غير شائعة في متلازمة بيلز
Joint Authors
al-Saigh, Abir
Jaman, Nazreen B. K.
Source
Sultan Qaboos University Medical Journal
Issue
Vol. 16, Issue 3 (31 Aug. 2016), pp.375-378, 4 p.
Publisher
Sultan Qaboos University College of Medicine and Health Sciences
Publication Date
2016-08-31
Country of Publication
Oman
No. of Pages
4
Main Subjects
Topics
Abstract EN
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
American Psychological Association (APA)
Jaman, Nazreen B. K.& al-Saigh, Abir. 2016. Seizures as an atypical feature of beal’s syndrome. Sultan Qaboos University Medical Journal،Vol. 16, no. 3, pp.375-378.
https://search.emarefa.net/detail/BIM-709749
Modern Language Association (MLA)
Jaman, Nazreen B. K.& al-Saigh, Abir. Seizures as an atypical feature of beal’s syndrome. Sultan Qaboos University Medical Journal Vol. 16, no. 3 (Aug. 2016), pp.375-378.
https://search.emarefa.net/detail/BIM-709749
American Medical Association (AMA)
Jaman, Nazreen B. K.& al-Saigh, Abir. Seizures as an atypical feature of beal’s syndrome. Sultan Qaboos University Medical Journal. 2016. Vol. 16, no. 3, pp.375-378.
https://search.emarefa.net/detail/BIM-709749
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 378
Record ID
BIM-709749