J Genet Med.  2008 Dec;5(2):136-138.

Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report

Affiliations
  • 1Department of Pediatrics, School of Medicine, Soonchunhyang University, Seoul, Korea. neolee@hosp.sch.ac.kr

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.

Keyword

Townes-Brocks syndrome; Hypothyroidism; Newborn

MeSH Terms

Abnormalities, Multiple
Anus, Imperforate
Ear
Hearing Loss
Hearing Loss, Sensorineural
Heart Defects, Congenital
Humans
Hypothyroidism
Infant, Newborn
Intellectual Disability
Polydactyly
Thumb
Abnormalities, Multiple
Anus, Imperforate
Hearing Loss, Sensorineural
Thumb
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