PDF(Pubmed)
Abstract：
Williams syndrome is an autosomal dominant multisystem disorder caused by a 1.5-1.8 Mb deletion on chromosome 7q11.23. It is characterized by facial deformations, cardiovascular abnormalities, developmental delays, gastrointestinal manifestations, and endocrine disorders.
A 1-year-old child presenting with developmental delays, special facial features, gastrointestinal bleeding, renal calcium deposition, and hypotonia was admitted to the hospital for \"hypercalcemia and gastrointestinal bleeding.\" Genetic testing showed a deletion mutation in the 7q11.23 region. Currently, the child receiving treatment to promote calcium excretion and rehabilitation training, but hypercalcemia has recurred.
The clinical phenotype of Williams syndrome is complex, and different severities, characterized by developmental delays, facial deformities, cardiovascular abnormalities, gastrointestinal symptoms and endocrine disorders, should be considered in children. The syndrome may require thorough genetic testing for diagnosis and early intervention treatment to improve patient quality of life.
A 1-year-old child presenting with developmental delays, special facial features, gastrointestinal bleeding, renal calcium deposition, and hypotonia was admitted to the hospital for \"hypercalcemia and gastrointestinal bleeding.\" Genetic testing showed a deletion mutation in the 7q11.23 region. Currently, the child receiving treatment to promote calcium excretion and rehabilitation training, but hypercalcemia has recurred.
The clinical phenotype of Williams syndrome is complex, and different severities, characterized by developmental delays, facial deformities, cardiovascular abnormalities, gastrointestinal symptoms and endocrine disorders, should be considered in children. The syndrome may require thorough genetic testing for diagnosis and early intervention treatment to improve patient quality of life.
摘要：
背景：威廉姆斯综合征是由染色体7q11.23上的1.5-1.8Mb缺失引起的常染色体显性遗传多系统疾病。它的特点是面部变形，心血管异常,发育迟缓,胃肠道表现,和内分泌失调。
方法：一名1岁儿童出现发育迟缓，特殊的面部特征，消化道出血,肾钙沉积，低渗患者因高钙血症和消化道出血入院。基因检测显示7q11.23区域有缺失突变。目前,儿童接受治疗以促进钙排泄和康复训练，但高钙血症复发了.
结论：威廉姆斯综合征的临床表型复杂，和不同的严重性，以发育迟缓为特征，面部畸形,心血管异常,胃肠道症状和内分泌紊乱，应该在儿童中考虑。该综合征可能需要进行彻底的基因检测以进行诊断和早期干预治疗，以提高患者的生活质量。
方法：一名1岁儿童出现发育迟缓，特殊的面部特征，消化道出血,肾钙沉积，低渗患者因高钙血症和消化道出血入院。基因检测显示7q11.23区域有缺失突变。目前,儿童接受治疗以促进钙排泄和康复训练，但高钙血症复发了.
结论：威廉姆斯综合征的临床表型复杂，和不同的严重性，以发育迟缓为特征，面部畸形,心血管异常,胃肠道症状和内分泌紊乱，应该在儿童中考虑。该综合征可能需要进行彻底的基因检测以进行诊断和早期干预治疗，以提高患者的生活质量。
