B eal’s syndrome (online mendelian Inheritance in Man ® entry #121050), also known as congenital contractural arachno- dactyly, is an autosomal dominantly inherited connective tissue disorder characterised by multiple fexion contractures, arachnodactyly, severe kypho- scoliosis, abnormal pinnae and muscular hypoplasia. 1,2 Te syndrome was frst described in 1971 by Beal et al. 3 Tis report describes a case of Beal’s syndrome with seizures as a potential feature. To the best of the authors’ knowledge, seizures have not previously been reported as a characteristic of Beal’s syndrome. Tis case also highlights the importance of genetic screening for family members of patients with Beal’s syndrome. Case Report A seven-year-old Omani male was admitted to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He had been born at full- term gestation by Caesarean section due to non- progression of the second stage of labour. At birth, he had a good Apgar score and his growth parameters were normal. Tere were no antenatal or perinatal concerns and no signifcant maternal illness or history of drug intake. However, as a newborn, contractures in both lower limbs were observed; these were treated by orthopaedic specialists with plaster of Paris cast applications. Te patient’s developmental progress was appropriate for his age. He displayed delayed gross motor development and stood up late; however, his parents showed no concern and he began walking without support at 18 months. A hearing test was normal and a vision test showed a refractive error, for which he was prescribed glasses. Te patient was in grade 1 at school and had no learning difculties, although he experienced minor difculties in holding his pen due to fnger contractures. His mother reported that he had been bullied at school because Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman *Corresponding Author e-mail: nazreenarif@hotmail.com مة بيلزنج سة غي شائعة ف متلز التش نوبات ل�صائغن و عبي ا بانو كمار�ض جماازرين ن : 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. Keywords: Congenital Contractural Arachnodactyly; Marfan Syndrome; Fibrillin-2; Seizures; Case Report; Oman. رات جينية فلغاية ت�صببه طفثي نادر لاب ورامة بيلز هو ا�صطر متلزصا با�صمة والعروفة اأي�لقيتقفعية البع اللأ�صا عنكبية ا:لخ�ص ال تميزل�صام ويجي از الن�صيقة بالهاتعلئدة الل�صاض من ذوات ال�صفة ا. هذا الر�5q23 وقع ال�صبغيى ال عل)FBN2( 2-لي فبي الي ر. نعر�ض ف هذا التقريرتقو�ض ف الظهقية ف الأذن وفات خلأطراف واختلع ف ال، من تقفتلزمة مارفانية م�صابهة ل ب�صمات ج�صم لينيكياصخ�ض اإككلي و�ز الهيقة بالهارا�ض متعلح وجه ميزة واأع�صنجات وململعمر جاء بتبعة من ال�صان ذكر ف اطفل عما حالة ل ه ف فقط ت�صبهي كانتري�ض واأمه الت ف هذا الFBN2 د ف جي جدينيجود اختلف جي�ض الينية وت الفحويلز، اأثبتتلزمة ب ب صخ�صة حالة م�ذه اأولصغر. ح�صب علمنا هت ف ال�صابة بالت�صنجاها كانت م�ر�ض ولكنقة بالتعلأخرى الجه بدون الأعرا�ض المح الو مل مة بيلز.ة ف متلزتملة مصنجات ك�صمض الت�مة بيلز تعر� بتلز ؛ تقرير حالة؛ عمان.�صنجات؛ الت2 ؛ فبيلنقية؛ متلزمة مارفانلتقفعية البع اللأ�صا عنكبية ا: مفتاحية كلمات Seizures as an Atypical Feature of Beal’s Syndrome *Nazreen B. K. Jaman and Abeer Al-Sayegh CASE REPORT Sultan Qaboos University Med J, August 2016, Vol. 16, Iss. 3, pp. e375–378, Epub. 19 Aug 16 Submitted 7 Oct 15 Revisions Req. 26 Nov 15 & 13 Jan 16; Revisions Recd. 20 Dec 15 & 21 Jan 16 Accepted 14 Feb 16 doi: 10.18295/squmj.2016.16.03.021