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Williams Syndrome: A Case Report

威廉氏症候群:病例報告

摘要


威廉氏症候群是一種罕見的基因缺陷,是第七對染色體的長臂缺失(deleion 7q11)。患者常伴有多種先天缺陷,臨床特徵包括特殊的臉部特徵、心血管異常、智能障礙,以及獨特的個性如過於友善、易焦慮等。此病例為6歲亞洲女孩,她因蛀牙問題而來就診。她並沒有其他重大的心血管疾病,主要困難在於其認知上的問題。她接受了拔牙、不銹鋼牙套、溝隙封填以及氟化物等治療。過程中一開始合併束縛板的使用,並且配合重複的行為處理過程,使得此患者在後來的治療過程中可在沒有束縛板的使用下配合醫生指示進行治療。

並列摘要


Williams syndrome is a rare genetic condition, which is caused by the deletion of genetic material from the region q11.23 of chromosome 7. It is characterized by multiple congenital anomalies, including distinctive facial appearance, cardiovascular anomalies, mental retardation, and a unique personality with high levels of empathy and anxiety A 6 year old Asian girl with Williams Syndrome came to Taipei Medical University Hospital for dental treatment. The main difficulties for this girl were her cognitive problems. She did not have other major systemic problems such as cardiovascular disease. She had caries in multiple teeth and required extensive dental treatment. She received the pulp treatment, the extraction of primary teeth, stainless-steel crown restorations, sealants and fluoride application as preventive measures. In this case, the 6-year-old girl received care with the use of a papoose board on several occasions. The papoose board use was coupled with successful behavioral training which has allowed her to receive dental care without the board for many dental procedures.

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