1) Pendred syndrome
甲状腺肿大-耳聋综合征
1.
Pendred syndrome:case report;
甲状腺肿大-耳聋综合征1例
2) hypoparathyroidism-deafness-renal dysplasia syndrome
甲状旁腺功能减低-感音神经性耳聋-肾发育不良综合征
3) Syndromic deafness
综合征型耳聋
1.
Infrequent X chromosome abnormality and X-linked syndromic deafness;
一种罕见X染色体改变与X连锁综合征型耳聋的关系
4) Nonsyndromic hearing impairment
非综合征性耳聋
1.
Mutation analysis of GJB2 gene in nonsyndromic hearing impairment patients from Northeastern China;
中国东北地区非综合征性耳聋患者GJB2基因的致聋突变分析
2.
Gene mapping of a nonsyndromic hearing impairment family;
非综合征性耳聋一家系的基因定位
5) nonsyndromic hearing loss
非综合征型耳聋
1.
Mutation analysis of12S rRNA andtRNA-Ser ~((UCN)) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage;
近亲结婚所致非综合征型耳聋家系的线粒体基因突变分析
2.
In order to investigate the possible role of mitochondrial DNA mutations in NSHL, we analyze the incidence, character of three types of mitochondrial DNA mutations in the nonsyndromic hearing loss (NSHL) patients and their clinical data, healthy control subjects were also analyzed simultaneously.
分析非综合征型耳聋患者(nonsyndromic hearing loss, NSHL)及健康体检者中3种线粒体DNA(mitochondrial DNA, mtDNA)突变的发生频率、性质及临床资料特点,探讨线粒体DNA突变与非综合征型耳聋的关系。
6) Non-syndromic deafness
非综合征耳聋
1.
Family of Jiangsu Huaiyin is one of the biggest non-syndromic deafness families in the world.
永久保存珍贵的家系材料,是对该家系进行深入研究的基础,为此采用EB病毒(Epstein Barrvirus,EBV)转化淋巴细胞的方法对中国江苏淮阴地区非综合征耳聋大家系行建系工作。
补充资料：心脏-耳聋综合征
心脏-耳聋综合征
为Q-T间期延长综合征的一个类型。临床以Q-T间期延长、晕厥发作及耳聋为特征。常因情绪变化而诱发。一般认为发病与交感神经功能不全有关。心电图以Q-T间期延长为特征，伴T波宽大、切迹、高尖、双相或倒置。情绪激动或运动后上述改变更明显。内科治疗可服用β受体阻滞剂，必要时行左侧颈胸交感神经节切除术。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条