Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report.
- Author:
Shin Young PARK
1
;
Woo Ryoung LEE
Author Information
1. Department of Pediatrics, School of Medicine, Soonchunhyang University, Seoul, Korea. neolee@hosp.sch.ac.kr
- Publication Type:Case Report
- Keywords:
Townes-Brocks syndrome;
Hypothyroidism;
Newborn
- MeSH:
Abnormalities, Multiple;
Anus, Imperforate;
Ear;
Hearing Loss;
Hearing Loss, Sensorineural;
Heart Defects, Congenital;
Humans;
Hypothyroidism;
Infant, Newborn;
Intellectual Disability;
Polydactyly;
Thumb
- From:Journal of Genetic Medicine
2008;5(2):136-138
- CountryRepublic of Korea
- Language:English
-
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.
