نتایج جستجو برای: congenital deafness
تعداد نتایج: 126845 فیلتر نتایج به سال:
Profound deafness is one of the most striking features of certain congenital thyroid diseases. In addition, lesser defects in auditory function, albeit of uncertain incidence and severity, have been described in acquired thyroid disorders in later life. Numerous reports in the medical literature have indicated a link between the function of the thyroid gland and the development and possibly the...
Cadherin related gene (CDH23), which encodes otocadherin is a novel member of the cadherin gene superfamily. CDH23 mutations were found in families with nonsyndromic autosomal recessive deafness (DFNB12), and in families with deafness associated with vestibular dysfunction and retinitis pigmentosa (USH1D), respectively (Bolz et al., 2001; Bork et al., 2001; Petit, 2001). DFNB12 has been located...
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigment...
The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. We i...
Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. Th...
Mondini dysplasia is a congenital malformation of the inner ear, which is characterized by a short and large cochlear canal of 1.5 turn rather than 2.5 turns and an apical region with cystic dilatation. Patients present with congenital deafness, when both cochlea are affected. Unilateral disease may cause recurrent meningitis, otorrhea or rhinorrhea. In this article, we report a three-year-old ...
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