Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report
Journal of Genetic Medicine
;
: 136-138, 2008.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Imperforation anale
/
Pouce
/
Malformations multiples
/
Polydactylie
/
Oreille
/
Perte d'audition
/
Surdité neurosensorielle
/
Cardiopathies congénitales
/
Hypothyroïdie
/
Déficience intellectuelle
Limites du sujet:
Humains
/
Nouveau-né
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2008
Type:
Article
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