Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association

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 s...

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Detalles Bibliográficos
Autores principales: Rodagi, Sunil B., Surana, Snehal S., Potdar, Vijaykumar R., Kirdi, Sharanbasav S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879802/
https://www.ncbi.nlm.nih.gov/pubmed/27293527
http://dx.doi.org/10.4103/1995-705X.182644
Descripción
Sumario: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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