Wu Kan, Li Zhumei, Zhang Qiujing
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jun;35(6):556-562. doi: 10.13201/j.issn.2096-7993.2021.06.017.
Sensorineural hearing loss and scoliosis are common in several disease groups, such as hereditary connective tissue syndrome, hereditary motor and sensory neuropathy, lysosomal storage syndrome and endocrine disorders. These diseases have significant phenotypic diversity and genetic heterogeneity, different subtypes show inconsistent characteristics of deafness. Moreover, subtypes with similar clinical manifestations have different genetic mechanisms. Using new generation sequencing technology, considerable progress has been achieved in these diseases. This paper reviews clinical manifestations and genetic mechanism of syndromes combining sensorineural hearing loss and scoliosis.
感音神经性听力损失和脊柱侧弯在多种疾病组中很常见，如遗传性结缔组织综合征、遗传性运动和感觉神经病、溶酶体贮积症和内分泌疾病。这些疾病具有显著的表型多样性和遗传异质性，不同亚型表现出不一致的耳聋特征。此外，临床表现相似的亚型具有不同的遗传机制。利用新一代测序技术，在这些疾病的研究中取得了相当大的进展。本文综述了合并感音神经性听力损失和脊柱侧弯的综合征的临床表现和遗传机制。
