Congenital hearing loss in Jervell and Lange-Nielsen syndrome.
نویسندگان
چکیده
Jervell and Lange-Nielsen syndrome is an autosomal recessive hereditary condition that presents with cardiac abnormalities characterized by a prolonged Q-T electrocardiographic pattern and congenital severe-to-profound auditory deficits. This paper describes the auditory history of twin boys born out of consanguinity and diagnosed with this syndrome. Both infants were products of the neonatal intensive care unit (NICU) and failed initial ABR screening. Diagnostic evaluation demonstrated profound hearing loss and developmental delays for each infant. Because sudden death is a consequence, audiologists are advised to recognize signs and symptoms associated with this syndrome.
منابع مشابه
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
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BACKGROUND Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. C...
متن کاملThe Jervell and Lange-Nielsen syndrome.
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...
متن کاملNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objectives Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. ...
متن کاملSyndromic deafness-prevalence, distribution and hearing management protocol in Indian scenario
BACKGROUND The estimated prevalence of Sensory Neural Hearing Loss (SNHL) in patients less than 18 years of age is 6 per 1000. Roughly 50% of cases of congenital SNHL can be linked to a genetic cause, with approximately 30% being syndromic and the remaining 70% being non-syndromic. The term "syndromic" implies the presence of other distinctive clinical features in addition to hearing loss. The ...
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ورودعنوان ژورنال:
- Journal of the American Academy of Audiology
دوره 1 3 شماره
صفحات -
تاریخ انتشار 1990