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CASE REPORT
Year : 2016  |  Volume : 17  |  Issue : 1  |  Page : 27-29

Holt-Oram syndrome associated with aortic atresia: A rare association


Department of Paediatrics, Krishna Institute of Medical Sciences, Malkapur, Karad, Maharashtra, India

Correspondence Address:
Sunil B Rodagi
Department of Pediatrics, BLDES SHRI B. M. Patil Medical College, Bijapur - 586103
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1995-705X.182644

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Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association.


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