Department of Pediatrics, Inner Mongolia Autonomous Region Maternal and Child Health Hospital, Hohhot, China.
Brain Behav. 2023 Aug;13(8):e3131. doi: 10.1002/brb3.3131. Epub 2023 Jun 20.
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.
威廉姆斯综合征是一种常染色体显性多系统疾病，由染色体 7q11.23 上的 1.5-1.8Mb 缺失引起。其特征为面部畸形、心血管异常、发育迟缓、胃肠道表现和内分泌紊乱。
一名 1 岁儿童因发育迟缓、特殊面容、胃肠道出血、肾钙沉积和肌张力低下而入院，诊断为“高钙血症和胃肠道出血”。基因检测显示 7q11.23 区域存在缺失突变。目前，该患儿正在接受促进钙排泄和康复训练的治疗，但高钙血症已再次发生。
威廉姆斯综合征的临床表型复杂，不同严重程度的患者表现为发育迟缓、面部畸形、心血管异常、胃肠道症状和内分泌紊乱，儿童患者应考虑该综合征。该综合征可能需要进行彻底的基因检测以明确诊断，并进行早期干预治疗，以改善患者的生活质量。
