歌舞伎臉譜症候群：病例報告

Kabuki Syndrome: A Case Report

吳欣宜(Hsin-I Wu) ； 曾世杰(Shih-Jay Tzeng) ； 游昌憲(Chang-Hsien Yu)

《台灣復健醫學雜誌》 40卷1期 (2012/03) Pp. 41-45

https://doi.org/10.6315/2012.40(1)06

摘要

本文報告一名患有歌舞伎臉譜症候群（Kabuki syndrome）的五歲男孩。病童的症狀相當典型，外型上病童的耳朵很大、耳蝸很平，鼻子扁平，有長睫毛和長眼睛。各關節柔軟度極佳，食指可以伸展到與前臂平行。雙手小指特別短。臨床檢查發現病童脊椎有20度的側彎、站立時足跟外翻，其全面性發展遲緩，入學前的魏氏智力量表結果測驗顯示為中度智能障礙，因為右耳尚有聽覺障礙，可能因此導致語言及認知發展遲滯，正接受物理、職能及語言治療中。本病例報告提供病童相片四張，並回顧相關研究文獻，以供臨床醫師鑑別診斷之參考，本文提醒醫師須多方評估此類病人的各系統疾病，做早期預防和治療。（台灣復健醫誌2012；40（1）：41-45）

關鍵字

歌舞伎臉譜症候群 ； 發展遲緩 ； 智能障礙

並列摘要

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Although first reported in Japan, it has been recognized in other parts of the world. The present case with KS is a five-year-old boy. Because of his pervasive developmental delay, he received care in rehabilitation programs hosted by our hospital. He had prominent ears, depressed nasal tip, long palpebral fissures, and long eyelashes. The common features of KS in him are postnatal growth retardation, moderate mental retardation, scoliosis, cleft palate, flat feet, fifth finger clinodactyly, hypotonia, joint laxity and right peripheral hearing disorder. We describe this case as a reminder to clinical doctors. In addition to paying attention to his developmental condition, the physician should be careful about associated diseases of other systems. KS patients need a team providing medical, educational, psychological and social support and treatment. (Tw J Phys Med Rehabil 2012; 40(1): 41 - 45)

並列關鍵字

Kabuki syndrome ； developmental delay ； mental retardation