Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report
Journal of Genetic Medicine
; : 136-138, 2008.
Article
in En
| WPRIM
| ID: wpr-124729
Responsible library:
WPRO
ABSTRACT
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and mental retardation. However, hypothyroidism is not a common feature of TBS. There have been only three reported cases of TBS associated with hypothyroidism. We report the first case of TBS associated with hypothyroidism in Korea.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Anus, Imperforate
/
Thumb
/
Abnormalities, Multiple
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Polydactyly
/
Ear
/
Hearing Loss
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Hearing Loss, Sensorineural
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Heart Defects, Congenital
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Hypothyroidism
/
Intellectual Disability
Limits:
Humans
/
Newborn
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2008
Type:
Article