TAR Syndrome With Absent Patella - A Rare Presentation

Thrombocytopeniaabsent radius (TAR), a rare autosomal recessive disorder presenting with thrombocytopenia and radial anomalies. The severity of skeletal abnormality varies from bilateral absence of the radii with ulnar or humeral anomalies and the most severe cases exhibit phocomelia. Lower limb involvement is variable and includes dislocation of the patella andor of the hips, absent tibiofibular joint and lower limb phocomelia. Thrombocytopenia, which may be transient, is seen in all cases and will be symptomatic in over 90 of cases within the first four months of life. Gastrointestinal bleeding and occasionally intracerebral bleeding may result. The platelet count tends to rise as the child gets older and may approach normal levels in adulthood. Here were port a case of TAR syndrome presenting with absent patella.