Autosomal dominant syndrome with renal, anal, ear, & thumb malformations caused by SALL1 mutations
IMAGING
General Features
CT Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
DIAGNOSTIC CHECKLIST
Consider
Selected References
Valikodath NG et al: Ocular features of Townes-Brocks syndrome. J AAPOS. 24(2):115-8, 2020
Miller EM et al: Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 158A(3):533-40, 2012
Botzenhart EM et al: Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 28(2):204-5, 2007
Kosaki R et al: Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet A. 143A(10):1087-90, 2007
Keegan CE et al: Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 3(4):310-3, 2001
Townes PL et al: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr. 81(2):321-6, 1972
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Abbreviations
Townes-Brocks syndrome (TBS)
Synonyms
Renal-ear-anal-radial (REAR) syndrome
Definitions
Autosomal dominant syndrome with renal, anal, ear, & thumb malformations caused by SALL1 mutations
IMAGING
General Features
CT Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
DIAGNOSTIC CHECKLIST
Consider
Selected References
Valikodath NG et al: Ocular features of Townes-Brocks syndrome. J AAPOS. 24(2):115-8, 2020
Miller EM et al: Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 158A(3):533-40, 2012
Botzenhart EM et al: Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 28(2):204-5, 2007
Kosaki R et al: Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet A. 143A(10):1087-90, 2007
Keegan CE et al: Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 3(4):310-3, 2001
Townes PL et al: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr. 81(2):321-6, 1972
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