TAR (THROMBOCYTOPENIA WITH ABSENT RADIUS) SYNDROME WITH CONGENITAL ACYANOTIC HEART DISEASE: A RARE CASE REPORT
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2016, Vol 5, Issue 22
Abstract
It is a rare genetic disorder characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. This syndrome may occur as a part of the 1q21.1 deletion syndrome. Symptoms of thrombocytopenia or a lowered platelet count leads to bruising and potentially life-threatening haemorrhage. Affected children who survive this period and do not have damaging haemorrhages in the brain usually have a normal life expectancy and normal intellectual development. Other common links between with TAR seem to include heart problems, kidney problems, knee joint problems, frequently lactose intolerance and often thumb hypoplasia. The incidence is 0.5-1 per 100,000 live births. Mutations in the RBM8A gene cause TAR syndrome. It is inherited in an autosomal recessive pattern. This disorder is to be differentiated from Holt-Oram syndrome, which has similar presentation. Prevention of bleeding with physiotherapy and occupational therapy are mainstay of management. With this case report we try to discuss the complexity of the condition and its management in the neonatal period.
Authors and Affiliations
Ashok Jagtap, Ankit , Aundhakar , Lekha , Umardand
Keywords
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- EP ID EP164718
- DOI 10.14260/jemds/2016/281
- Views 67
- Downloads 0
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