Abstract
Introduction: Thrombocytopenia with absent radii (TAR) Syndrome is a rare congenital defect presents with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia and preserved thumb.Case presentation: A three and half year’s old male baby born out of non-consanguineous marriage with thrombocytopenia and bilateral absence of radius. Such type of anomaly has been previously reported in the children of a non- consanguineous marriage was few.Conclusions: Though rare incidence, all thrombocytopenia with any skeletal deformity cases in newborn or infancy to toddler age group must be thoroughly investigated to exclude TAR syndrome. Case is presenting here because of rarity.International Journal of Human and Health Sciences Vol. 02 No. 02 April’18. Page : 91-93
Highlights
Thrombocytopenia with absent radii (TAR) Syndrome is a rare congenital defect presents with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia and preserved thumb
The rate of mortality in this syndrome primarily depends on the platelet count and other accompanied anomalies
Showed patent foramen ovale and small subaortic ventricular septal defect (VSD) Discussion: The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterized by bilateral absence of the radii and a thrombocytopenia
Summary
Thrombocytopenia with absent radii (TAR) Syndrome is a rare congenital defect presents with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia and preserved thumb. Introduction: Thrombocytopenia with absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder. Hypo megakaryocytic thrombocytopenia and bilateral absent of radius that may have an additional anomalies[1]. The most important cause of mortality among children with TAR syndrome is bleeding.
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