title: Association of the long QT syndrome With goiter and deafness.
abstract: We report on the long QT syndrome occurring in conjunction with nontoxic multinodular goiter and sensorineural deafness in several siblings of a large family. Autosomal and X-linked recessive and dominant modes of inheritance are possible for the different phenotypes. The affected family members had various phenotype combinations, suggesting variable expressivity and incomplete penetrance.
authors.affiliation: Cardiovascular Research Center, Developmental Biology Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA. gritli@helix.mgh.harvard.edu
authors.forename: Sami
authors.initials: S
authors.lastname: Gritli
authors.forename: Mamia
authors.initials: M
authors.lastname: Ben Salah
authors.forename: Abdessalem
authors.initials: A
authors.lastname: Shili
authors.forename: Caroline D
authors.initials: CD
authors.lastname: Robson
authors.forename: Mohamed
authors.initials: M
authors.lastname: Ferjaoui
authors.forename: Lotfi
authors.initials: L
authors.lastname: Hendaoui
authors.forename: Ali
authors.initials: A
authors.lastname: Belhani
authors.forename: Sarrah Baltagi-Ben
authors.initials: SB
authors.lastname: Jilani
authors.forename: James F
authors.initials: JF
authors.lastname: Gusella
authors.forename: Calum A
authors.initials: CA
authors.lastname: Macrae
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D002648:Child; D003645:Death, Sudden / Q000453:epidemiology; D005260:Female; D006042:Goiter / Q000150:complications* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014416:Tunisia; D055815:Young Adult