背景:威廉姆斯综合征(WS)是由7q11.23微缺失引起的多系统神经发育障碍。本研究旨在表征中国WS患儿的临床表型,以帮助该病的早期诊断和干预。
方法:回顾性招募231名诊断为WS的儿童参与研究。对临床资料进行分析,得出不同临床表型的发生率。分析表型发生情况及性别、年龄对不同表型发生的影响。
结果:所有WS均表现为面部畸形(100.0%)。大多数患有神经发育障碍(91.8%),声音嘶哑(87.4%)和心血管异常(85.7%)。身材矮小的发生率(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%)相对较高.在主动脉瓣上狭窄中发现了性别差异(SVAS,p<.001),室间隔缺损(VSD,p<.05),腹股沟疝(p<.001),上肺动脉狭窄(SVPS,p<.05)和神经发育障碍(p<.05)。WS中神经发育障碍的发生率随着年龄的增长而增加(p<.05),而心血管异常(p<.001),身材矮小(p<.001),高钙尿症(p<.001)和高钙血症(p<.01)随年龄增长而降低。
结论: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,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。
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.