Department of Child Health Care, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Department of Pediatric Cardio-Thoracic Surgery, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Mol Genet Genomic Med. 2022 Dec;10(12):e2069. doi: 10.1002/mgg3.2069. Epub 2022 Sep 27.
Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aims to characterize the clinical phenotypes of Chinese children with WS to help for the early diagnosis and intervention of this disease.
231 children diagnosed with WS were retrospectively recruited to the study. Clinical data were analyzed to obtain the incidence of different clinical phenotypes. The occurrence of phenotypes and the influence of gender and age on the incidence of different phenotypes were analyzed.
All WS exhibited facial dysmorphism (100.0%). The majority had neurodevelopmental disorder (91.8%), hoarseness (87.4%) and cardiovascular anomalies (85.7%). The incidence of short stature (46.9%), inguinal hernia (47.2%), hypercalciuria (29.10%), hypercalcemia (9.1%), subclinical hypothyroidism (26.4%) and hypothyroidism (7.4%) were relatively higher. Gender differences were found in supravalvular aortic stenosis (SVAS, p < .001), ventricular septal defect (VSD, p < .05), inguinal hernia (p < .001), superior pulmonary stenosis (SVPS, p < .05) and neurodevelopmental disorder (p < .05). The incidence of neurodevelopmental disorder in WS increased with age (p < .05) while cardiovascular anomalies (p < .001), short stature (p < .001), hypercalciuria (p < .001) and hypercalcemia (p < .01) decreased with age.
Facial dysmorphism, neurodevelopmental disorder, hoarseness and cardiovascular anomalies were the most common phenotypes. Genetic testing should be suggested to confirm the diagnosis for children with the above abnormalities. Gender and age should be taken into account when making diagnosis and intervention.
威廉姆斯综合征（WS）是一种由 7q11.23 微缺失引起的多系统神经发育障碍。本研究旨在描述中国 WS 患儿的临床表型特征，以帮助早期诊断和干预该疾病。
回顾性招募 231 名诊断为 WS 的儿童进行研究。分析临床数据以获得不同临床表型的发生率。分析表型的发生以及性别和年龄对不同表型发生率的影响。
所有 WS 均表现出面部畸形（100.0%）。大多数存在神经发育障碍（91.8%）、声音嘶哑（87.4%）和心血管异常（85.7%）。身材矮小（46.9%）、腹股沟疝（47.2%）、高钙尿症（29.10%）、高钙血症（9.1%）、亚临床甲状腺功能减退症（26.4%）和甲状腺功能减退症（7.4%）的发生率相对较高。性别差异见于主动脉瓣上狭窄（SVAS，p<0.001）、室间隔缺损（VSD，p<0.05）、腹股沟疝（p<0.001）、肺动脉瓣上狭窄（SVPS，p<0.05）和神经发育障碍（p<0.05）。随着年龄的增长，WS 神经发育障碍的发生率增加（p<0.05），而心血管异常（p<0.001）、身材矮小（p<0.001）、高钙尿症（p<0.001）和高钙血症（p<0.01）的发生率则随年龄的增长而降低。
面部畸形、神经发育障碍、声音嘶哑和心血管异常是最常见的表型。对于有上述异常的儿童，应建议进行基因检测以确认诊断。在进行诊断和干预时，应考虑性别和年龄因素。
