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Temple-Baraitser综合征1例报告

郑江珍,孙萍,胡小云,李璐

Chinese Journal of Practical Pediatrics（2018）

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Abstract
Temple-Baraitser综合征(Temple-Baraitser Syndrome,TMBTS)是一种罕见疾病,由KCNH1基因上某一杂合突变引起[1-2].临床症状表现为严重生长发育迟缓,指(趾)甲缺失或发育不全,多数患者还会有癫痫、肌张力减退以及各种面部畸形.本病目前主要靠基因诊断.现结合临床表现及基因诊断国内首次报道TMBTS1例.
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