| CASE REPORT |
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| Year : 2016 | Volume
: 17
| Issue : 1 | Page : 27-29 |
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Holt-Oram syndrome associated with aortic atresia: A rare association
Sunil B Rodagi, Snehal S Surana, Vijaykumar R Potdar, Sharanbasav S Kirdi
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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