Williams-Beuren综合征的临床及遗传学特点:2例报道

发布时间：2018-12-12 08:14

【摘要】：通过分析2例WBS患儿临床表现,个人史,心脏超声、头颅磁共振成像、脑电图及染色体检测结果的特点,探讨Williams-Beuren综合征(Williams-Beuren syndrome,WBS)的临床及遗传学特点,以提高对该疾病的认识。2例患儿均为男性,就诊年龄分别为11个月1天和9个月9天,均存在心血管畸形,病例1为主动脉瓣上狭窄,病例2为房间隔缺损、动脉导管未闭。患儿具有WBS特征性面容:眶周饱满、球形鼻头、鼻梁低平、长人中、厚嘴唇。精神发育迟滞:病例1为中-重度,病例2为重度。其他表现:病例1合并双侧腹股沟斜疝和鞘膜积液,病例2合并喂养困难、埋藏式阴茎及婴儿痉挛。个人史:病例1孕期曾保胎,后因羊水污染足月剖宫产娩出。辅助检查:2例患儿头颅磁共振成像均未见明显异常,病例2脑电图示高度失律并监测到痉挛发作。染色体检测结果:病例1通过多重连接依赖的探针扩增法确定为染色体7q11.23缺失,其内包含人弹性蛋白(elastin,ELN)基因片段缺失突变;病例2通过高分辨G带法确定为染色体7q11.21q11.23缺失。本组2例WBS患儿均存在心血管畸形、特殊面容、精神发育迟滞及结缔组织或泌尿系统异常,病例1的主动脉瓣上狭窄可能与ELN基因缺失相关,病例2的癫痫发生可能与超出7q11.23区域的q11.21缺失相关。
[Abstract]:The clinical and genetic characteristics of Williams-Beuren syndrome (Williams-Beuren syndrome,WBS) were studied by analyzing the clinical manifestations, personal history, cardiac ultrasound, cranial magnetic resonance imaging, electroencephalogram and chromosome examination in 2 cases of WBS. In order to improve the understanding of the disease, the two cases were male, the ages were 11 months 1 day and 9 months 9 days, both had cardiovascular malformation, case 1 was aortic stenosis, case 2 was atrial septal defect and patent ductus arteriosus. The child has WBS features: full around the orbit, spherical nose, flat nose, medium length and thick lips. Mental retardation: case 1 was moderate-severe and case 2 was severe. Other manifestations: case 1 with bilateral indirect inguinal hernia and hydrocele, case 2 with feeding difficulties, buried penis and infantile spasm. Personal history: case 1 pregnancy has been preserved, after amniotic fluid contamination due to full-term cesarean delivery. Auxiliary examination: there was no obvious abnormality in cranial magnetic resonance imaging in 2 cases. In case 2, electroencephalogram showed high dysrhythmia and spasm was detected. Chromosome detection results: case 1 was identified as chromosome 7q11.23 deletion by multiple ligation-dependent probe amplification, which contained human elastin (elastin,ELN) gene fragment deletion mutation. Case 2 was identified as chromosome 7q11.21q11.23 deletion by high resolution G-band method. There were cardiovascular malformations, special facial features, mental retardation and abnormal connective tissue or urinary system in 2 cases of WBS. The aortic stenosis in case 1 may be related to the deletion of ELN gene. The occurrence of epilepsy in case 2 may be related to the deletion of Q 11. 21 beyond the 7q11.23 region.
【作者单位】：北京大学第一医院儿科;赤峰学院附属医院普儿科;
【分类号】：R725.9

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