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狄蘭氏症候群:病例報告

Cornelia de Lange Syndrome: A Case Report

摘要


狄蘭氏症候群(Cornelia de Lange Syndrome)為一種罕見遺傳疾病,病因目前未知,臨床診斷主要依據病患外觀特徵,主要的特徵有發展遲緩、多毛症、四肢異常及特殊的臉部外觀。此篇文章提出12歲女性狄蘭氏病患病例討論,在進行牙科治療之前,需要特別注意病人的心臟問題以及凝血功能,另外因為病患有智能障礙,牙科行為管理也是很大的挑戰。

並列摘要


Cornelia de Lange Syndrome (CDLS) is a rare multiple congenital anomaly syndrome. Etiology is still unknown. Clinical diagnosis of CDLS mainly depends on the recognition of distinctive facial appearances. Major characteristics include developmental delay, growth retardation, hirsutism, limbs anomalies and specific facial features. This article presents a case of 12-year-old girl with Cornelia de Lange Syndrome. Before applying any dental treatments, the dentist has to evaluate the cardiac condition as well as coagulation condition of the patient. Due to mental retardation of the patient, behavior management is also a challenge.

延伸閱讀


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