[Exploration of cochlear implant in frontometaphyseal dysplasia 2 patient with MAP3K7 gene mutation: a case report].

Abstract excerpt

本文报道了1例罕见的额骨干骺端发育不良2型成年男性患者，其临床表现为眶上嵴突出、宽鼻梁、小下颌，同时合并多发颞骨骨瘤、手足畸形、脊柱侧弯、感音神经性聋，基因学检测发现MAP3K7基因的杂合错义变异c.1454C>T/p.P485L。对该患者进行了人工耳蜗植入、颞骨骨瘤切除及外耳道重建术，患者生活质量得到了明显提升，术后听觉行为分级标准（categories of auditory performance，CAP）达5级，即不借助唇读可理解常用短语。.

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