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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Atriodigital dysplasia
Heart-hand syndrome
Definitions
Heart and hand syndrome characterized by upper extremity and cardiac malformations
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Al-Qattan MM et al: Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. Gene. 560(2):129-36, 2015
Guo Q et al: Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations. Cell Physiol Biochem. 37(3):1066-74, 2015
Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
Mao Q et al: Asymmetric cell convergence-driven fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal. Development. ePub, 2015
Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
Bickley SR et al: Regulatory modulation of the T-box gene Tbx5 links development, evolution, and adaptation of the sternum. Proc Natl Acad Sci U S A. 111(50):17917-22, 2014
Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
Hasson P et al: Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell. 18(1):148-56, 2010
Fan C et al: Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. J Biol Chem. 284(38):25653-63, 2009
Rothschild SC et al: Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis. Dev Biol. 330(1):175-84, 2009
Vaienti L et al: The pollicization of the index finger in the aplasia of the thumb. Pediatr Med Chir. 31(6):258-61, 2009
Garavelli L et al: Holt-Oram syndrome associated with anomalies of the feet. Am J Med Genet A. 146A(9):1185-9, 2008
McDermott DA et al: Atrial fibrillation and other clinical manifestations of altered TBX5 dosage in typical Holt-Oram syndrome. Circ Res. 103(7):e96, 2008
Mori AD et al: Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol. 2006 Sep 15;297(2):566-86. Epub 2006 May 24. Erratum in: Dev Biol. 309(2):386, 2007
Tseng YR et al: Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. Am J Med Genet A. 143A(9):1012-4, 2007
Plageman TF Jr et al: Microarray analysis of Tbx5-induced genes expressed in the developing heart. Dev Dyn. 235(10):2868-80, 2006
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Atriodigital dysplasia
Heart-hand syndrome
Definitions
Heart and hand syndrome characterized by upper extremity and cardiac malformations
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Al-Qattan MM et al: Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. Gene. 560(2):129-36, 2015
Guo Q et al: Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations. Cell Physiol Biochem. 37(3):1066-74, 2015
Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
Mao Q et al: Asymmetric cell convergence-driven fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal. Development. ePub, 2015
Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
Bickley SR et al: Regulatory modulation of the T-box gene Tbx5 links development, evolution, and adaptation of the sternum. Proc Natl Acad Sci U S A. 111(50):17917-22, 2014
Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
Hasson P et al: Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell. 18(1):148-56, 2010
Fan C et al: Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. J Biol Chem. 284(38):25653-63, 2009
Rothschild SC et al: Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis. Dev Biol. 330(1):175-84, 2009
Vaienti L et al: The pollicization of the index finger in the aplasia of the thumb. Pediatr Med Chir. 31(6):258-61, 2009
Garavelli L et al: Holt-Oram syndrome associated with anomalies of the feet. Am J Med Genet A. 146A(9):1185-9, 2008
McDermott DA et al: Atrial fibrillation and other clinical manifestations of altered TBX5 dosage in typical Holt-Oram syndrome. Circ Res. 103(7):e96, 2008
Mori AD et al: Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol. 2006 Sep 15;297(2):566-86. Epub 2006 May 24. Erratum in: Dev Biol. 309(2):386, 2007
Tseng YR et al: Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. Am J Med Genet A. 143A(9):1012-4, 2007
Plageman TF Jr et al: Microarray analysis of Tbx5-induced genes expressed in the developing heart. Dev Dyn. 235(10):2868-80, 2006
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