Holt-Oram syndrome and autism spectrum disorder. About a case
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Published
2018-12-27
How to Cite
Fontecha Banegas, L. ., Moreno Alonso, I. ., & Huertas Patón, A. . (2018). Holt-Oram syndrome and autism spectrum disorder. About a case. Revista De Psiquiatría Infanto-Juvenil, 35(4), 328–331. https://doi.org/10.31766/revpsij.v35n4a6
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Case reports
DOI:
https://doi.org/10.31766/revpsij.v35n4a6Keywords:
Holt-Oram syndrome, atrio-digital dysplasia, TBX5 gene, skeletal and cardiological malformations, autism spectrum disorderAbstract
Holt-Oram syndrome or atrio-digital dysplasia is an autosomal dominant disorder inheritance with 100% penetrance that affects one in every 100,000 births, caused by the mutation of the TBX5 gene (12q24.1), responsible for cardiogenesis and of the formation of superior limbs, reason why it is characterized by the presence of anomalies and skeletal and cardiological malformations. We describe the case of a 8-year-old male with a diagnosis of Holt-Oram Syndrome and Autism Spectrum Disorder.
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