Bouzid Fatima Zahrae, Hammou Hanane Ait, Akallakh Hassan, Dafir Kenza, Tajir Mariam, Aboussair Nisrine
Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc.
Faculté de Médecine et de Pharmacie de Marrakech, Université Cadi Ayyad, Marrakech, Maroc.
Pan Afr Med J. 2023 Dec 1;46:94. doi: 10.11604/pamj.2023.46.94.29604. eCollection 2023.
Williams-Beuren syndrome is a rare genetic disease (1/20 000) characterized by a microdeletion at 7q11.23 encompassing about 28 genes, including the elastin gene, ELN. It is a sporadic disease in the majority of cases. Easily identifiable in childhood, this developmental disorder associates suggestive face dysmorphism, cardiac defect, psychomotor retardation and specific behavioural and cognitive profile. We conducted a retrospective study of 11 patients with Williams-Beuren syndrome whose data were collected in the Genetics Department of the Mohammed VI University Hospital of Marrakech. The average age of patients was 6.05 years (SD=6.56; interquartile range=5), with a female predominance (64%; 7/11 patients). Almost all patients were mentally retarded and the diagnosis was confirmed in 100% (11) of patients using fluorescence in situ hybridisation (FISH).
威廉姆斯-贝伦综合征是一种罕见的遗传病（发病率为1/20000），其特征是7号染色体长臂11.23区域存在微缺失，该区域包含约28个基因，其中包括弹性蛋白基因ELN。在大多数情况下，这是一种散发型疾病。这种发育障碍在儿童期很容易识别，伴有特征性面部畸形、心脏缺陷、精神运动发育迟缓以及特定的行为和认知特征。我们对11例威廉姆斯-贝伦综合征患者进行了一项回顾性研究，这些患者的数据来自马拉喀什穆罕默德六世大学医院遗传学部门。患者的平均年龄为6.05岁（标准差=6.56；四分位间距=5），女性占多数（64%；7/11例患者）。几乎所有患者都有智力障碍，采用荧光原位杂交（FISH）技术在100%（11例）的患者中确诊。
