Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Otol Neurotol. 2012 Jun;33(4):674-80. doi: 10.1097/MAO.0b013e31824b7708.
22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings.
Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.
22q11.2 微重复综合征的特征是表型高度可变，包括面部畸形、发育迟缓以及听力损失。我们描述了一个家系，其中 11 个孩子中有 5 个受到单侧或双侧先天性听小骨闭锁的影响。这 5 个孩子中有 4 个携带 22q11.2 微重复，并具有典型的畸形特征。使用三维重建的计算机断层扫描可以对中耳结构进行详细检查并对闭锁类型进行分类。听力计显示与临床和计算机断层扫描结果一致的中度至重度传导性听力损失。
对于携带 22q11.2 微重复的患者，需要对耳部进行详细检查。当遇到外耳异常时，需要进行包括听力计和三维重建的计算机断层扫描在内的进一步检查。
