TYPICAL AND ATYPICAL CASES OF PENDRED'S SYNDROME IN ONE FAMILY

1966 ◽  
Vol 53 (2) ◽  
pp. 264-270 ◽  
Author(s):  
G. M. Bax
Keyword(s):  
Hearing Loss ◽  
Two Generations ◽  
Complete Form ◽  
Pendred’S Syndrome ◽  
Perchlorate Discharge Test ◽  
Loss Of Hearing ◽  
Discharge Test

ABSTRACT Pendred's syndrome is a condition which, in its complete form, is characterized by congenital deaf-mutism, goitre, and defective organic binding of iodide in the thyroid. However, there are less typical cases, e. g. without a goitre, with only limited hearing loss, or a normal perchlorate discharge test. A family was studied in which Pendred's syndrome was found in two generations. The complete form was present in two members; two other members were considered to show less typical forms of the same disorder. All were euthyroid. Three out of five sons were deaf-mute and goitrous. Perchlorate caused a discharge of radioiodine from the thyroid in two of them, and also in the father who had no goitre and a slight loss of hearing only detectable by audiometry. Peripheral deiodination of radioactive diiodotyrosine was normal in all patients, but had been abnormal in one son while he was hypothyroid.

The variable intrafamiliar expressivity in Pendred's syndrome

1989 ◽  
Vol 14 (5) ◽  
pp. 395-399 ◽  
Author(s):  
TORSTEN JOHNSEN ◽  
MADS SØLVSTEN SØRelig;NSEN ◽  
ULLA FELDT-RASMUSSEN ◽  
JØGEN FRIIS
Keyword(s):  
Pendred’S Syndrome

Pendred’s Syndrome

2009 ◽  
pp. 231-241 ◽  
Author(s):  
Peter Kopp ◽  
Sabine Schnyder ◽  
Liuska Pesce
Keyword(s):  
Pendred’S Syndrome

Pendred's Syndrome

2009 ◽  
pp. 1600-1602
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Pendred’S Syndrome

scholarly journals Do not Overlook Pendred's Syndrome in Children with Sensorineural Hearing Loss

2001 ◽  
Vol 80 (10) ◽  
pp. 760-761
Author(s):  
Hüseyin Çaksen ◽  
Selim Kurtoglu ◽  
Saban Yüksel ◽  
Ahmet Çiftçi ◽  
Mustafa Kendirci
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Pendred’S Syndrome
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