The variable intrafamiliar expressivity in Pendred's syndrome

T Johnsen; M S Sørensen; U Feldt-Rasmussen; J Friis

doi:10.1111/j.1365-2273.1989.tb00392.x

The variable intrafamiliar expressivity in Pendred's syndrome

T Johnsen, M S Sørensen, U Feldt-Rasmussen, J Friis

Abstract

This study presents clinical, audiological, radiological and biochemical data on 14 individuals representing 6 families, each including at least one patient with the classical Pendred's syndrome. The size of the thyroid, degree of hearing loss and result of the iodine perchlorate discharge test showed great variations, even between affected relatives. Based on these observations a new definition of Pendred's syndrome is proposed. The use of the iodine perchlorate discharge test for detection of healthy carriers among family members is suggested.

Original language	English
Journal	Clinical Otolaryngology and Allied Sciences
Volume	14
Issue number	5
Pages (from-to)	395-9
Number of pages	5
ISSN	0307-7772
DOIs	https://doi.org/10.1111/j.1365-2273.1989.tb00392.x
Publication status	Published - Oct 1989
Externally published	Yes

Keywords

Adolescent
Adult
Audiometry
Cochlea/abnormalities
Deafness/congenital
Female
Genetic Variation
Goiter/genetics
Humans
Male
Middle Aged
Pedigree
Syndrome
Thyroid Function Tests

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10.1111/j.1365-2273.1989.tb00392.x

Cite this

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title = "The variable intrafamiliar expressivity in Pendred's syndrome",

abstract = "This study presents clinical, audiological, radiological and biochemical data on 14 individuals representing 6 families, each including at least one patient with the classical Pendred's syndrome. The size of the thyroid, degree of hearing loss and result of the iodine perchlorate discharge test showed great variations, even between affected relatives. Based on these observations a new definition of Pendred's syndrome is proposed. The use of the iodine perchlorate discharge test for detection of healthy carriers among family members is suggested.",

keywords = "Adolescent, Adult, Audiometry, Cochlea/abnormalities, Deafness/congenital, Female, Genetic Variation, Goiter/genetics, Humans, Male, Middle Aged, Pedigree, Syndrome, Thyroid Function Tests",

author = "T Johnsen and S{\o}rensen, {M S} and U Feldt-Rasmussen and J Friis",

year = "1989",

month = oct,

doi = "10.1111/j.1365-2273.1989.tb00392.x",

language = "English",

volume = "14",

pages = "395--9",

journal = "Clinical Otolaryngology and Allied Sciences",

issn = "0307-7772",

publisher = "Wiley-Blackwell Publishing Ltd",

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T1 - The variable intrafamiliar expressivity in Pendred's syndrome

AU - Johnsen, T

AU - Sørensen, M S

AU - Feldt-Rasmussen, U

AU - Friis, J

PY - 1989/10

Y1 - 1989/10

N2 - This study presents clinical, audiological, radiological and biochemical data on 14 individuals representing 6 families, each including at least one patient with the classical Pendred's syndrome. The size of the thyroid, degree of hearing loss and result of the iodine perchlorate discharge test showed great variations, even between affected relatives. Based on these observations a new definition of Pendred's syndrome is proposed. The use of the iodine perchlorate discharge test for detection of healthy carriers among family members is suggested.

AB - This study presents clinical, audiological, radiological and biochemical data on 14 individuals representing 6 families, each including at least one patient with the classical Pendred's syndrome. The size of the thyroid, degree of hearing loss and result of the iodine perchlorate discharge test showed great variations, even between affected relatives. Based on these observations a new definition of Pendred's syndrome is proposed. The use of the iodine perchlorate discharge test for detection of healthy carriers among family members is suggested.

KW - Adolescent

KW - Adult

KW - Audiometry

KW - Cochlea/abnormalities

KW - Deafness/congenital

KW - Female

KW - Genetic Variation

KW - Goiter/genetics

KW - Humans

KW - Male

KW - Middle Aged

KW - Pedigree

KW - Syndrome

KW - Thyroid Function Tests

U2 - 10.1111/j.1365-2273.1989.tb00392.x

DO - 10.1111/j.1365-2273.1989.tb00392.x

M3 - Journal article

C2 - 2582634

SN - 0307-7772

VL - 14

SP - 395

EP - 399

JO - Clinical Otolaryngology and Allied Sciences

JF - Clinical Otolaryngology and Allied Sciences

IS - 5

ER -

The variable intrafamiliar expressivity in Pendred's syndrome

Abstract

Keywords

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