Int J Stomatol

Int J Stomatol ›› 2023, Vol. 50 ›› Issue (1): 108-113.doi: 10.7518/gjkq.2023006

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Children with Williams-Beuren syndrome associated with cranial and maxillofacial deformity

Li Ting(),Yang Xuecai(),Wang Junwei.   

  1. Cleft Lip and Palate Center, Dept. of Oral and Maxillofacial Surgery, Women and Children’s Hospital, Qingdao University, Qingdao 266000, China
  • Received:2022-01-16 Revised:2022-06-21 Online:2023-01-01 Published:2023-01-09
  • Contact: Xuecai Yang E-mail:tingting6993@126.com;dryang2002@163.com

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Abstract:

Williams-Beuren syndrome (WBS, OMIM 194050) is a rare and multi-system developmental disease asso-ciated with cranial and maxillofacial deformity. It is associated with the partial loss of the 7q11.23 region, including the encoded elastin gene. WBS affects about 1 in 7 500 to 1 in 20 000 live births, with equal numbers of boys and girls being affected, in all ethnic groups around the world. The common clinical manifestations include typical craniofacial abnorma-lities, cardiovascular diseases, mental retardation, cognitive deficiency, hypercalcemia, and so on. Although clinical diagnostic criteria are available for WBS, the confirming diagnosis requires rapid and accurate gene detection. WBS is a rare multi-system developmental disease and thus requires multi-disciplinary collaborative treatment, mainly including medical monitoring, drug and surgery treatment, and speech language and behavioral intervention. Given that WBS usually occurs in infants and young children, this article reviews the overview, clinical manifestations, diagnosis, and treatment of WBS in children to improve the understanding of medical staff regarding this condition.

Key words: Williams-Beuren syndrome, diagnosis, treatment

CLC Number: 

  • R 782

TrendMD: 
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