Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report
Journal of Genetic Medicine
;
: 136-138, 2008.
Article
in English
| WPRIM
| ID: wpr-124729
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Anus, Imperforate
/
Thumb
/
Abnormalities, Multiple
/
Polydactyly
/
Ear
/
Hearing Loss
/
Hearing Loss, Sensorineural
/
Heart Defects, Congenital
/
Hypothyroidism
/
Intellectual Disability
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2008
Type:
Article
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