Association of the long QT syndrome With goiter and deafness.
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.
Gritli
Sami
S
Cardiovascular Research Center, Developmental Biology Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA. gritli@helix.mgh.harvard.edu
Ben Salah
Mamia
M
Shili
Abdessalem
A
Robson
Caroline D
CD
Ferjaoui
Mohamed
M
Hendaoui
Lotfi
L
Belhani
Ali
A
Jilani
Sarrah Baltagi-Ben
SB
Gusella
James F
JF
Macrae
Calum A
CA
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