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

[pendred syndrome]

Townes-Brocks syndrome (TBS ) is a rare autosomal dominant congenital disorder caused by mutations in the SALL 1 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 SALL 1 gene mutation .

Diseases
Validation

Diseases presenting "tbs with congenital hypothyroidism" symptom

pendred syndrome

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