Korean J Pediatr.  2010 Dec;53(12):1018-1021. 10.3345/kjp.2010.53.12.1018.

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene

• Choi WI
• Kim JH
• Yoo HW
• Oh SH

• KMID: 1455878
• DOI: http://doi.org/10.3345/kjp.2010.53.12.1018

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.

Keyword

Townes-Brocks syndrome; SALL1; Congenital hypothyroidism

MeSH Terms

Abnormalities, Multiple
Anal Canal
Aneuploidy
Animals
Anus, Imperforate
Cats
Chromosome Disorders
Chromosomes, Human, Pair 22
Congenital Hypothyroidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Craniosynostoses
Diagnosis, Differential
Esophagus
Eye
Goiter, Nodular
Hearing Loss, Sensorineural
Heart Defects, Congenital
Humans
Kidney
Limb Deformities, Congenital
Radius
Spine
Thumb
Trachea
Abnormalities, Multiple
Anal Canal
Aneuploidy
Anus, Imperforate
Chromosome Disorders
Chromosomes, Human, Pair 22
Craniosynostoses
Esophagus
Goiter, Nodular
Hearing Loss, Sensorineural
Heart Defects, Congenital
Kidney
Limb Deformities, Congenital
Radius
Spine
Thumb
Trachea