Congenital hearing loss in Jervell and Lange-Nielsen syndrome.

نویسندگان

  • J Jacobson
  • C Jacobson
  • P Francis
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.

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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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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. ...

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عنوان ژورنال:
  • Journal of the American Academy of Audiology

دوره 1 3  شماره 

صفحات  -

تاریخ انتشار 1990