Case Report on Holt-oram Syndrome with Fanconi Anaemia

Holt Oram Syndrome with Fanconi anaemia is a rare scenario where a child presents with both genetic disorders. The Holt Oram syndrome affects the bones in the arms, hands, congenital heart problems, whereas Fanconianamia affects the failure of bone marrow which has increased risk of cancer. HOS is caused by mutations in the TBX5 gene which regulates gene expression. Fanconi anaemia is caused by mutations in various genes related to DNA repair, leading to increased chromosomal breakage. The prognosis for HOS varies depending on the severity of the cardiac malformations and especially the complete heart block had poor prognosis.