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CASE REPORT
Korean J Pediatr 2010 December;53(12) :1018-1021.
doi:https://doi.org/10.3345/kjp.2010.53.12.1018
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Won Ik Choi (Choi WI)1, Ji Hye Kim (Kim JH)1, Han Wook Yoo (Yoo HW)2, Sung Hee Oh (Oh SH)1
1Department of Pediatrics, Hanyang University School of Medicine, Seoul, Korea
2Medical Genetic Clinics and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Corresponding Author: Sung Hee Oh ,Email: sungheeo@hanyang.ac.kr
Copyright © 2010 by The Korean Pediatric Society
ABSTRACT
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.
Keywords: Townes-Brocks syndrome | SALL1 | Congenital hypothyroidism
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