TAR– SYNDROME  ( THROMBOCYTOPENIA – ABSENT RADIUS  SYNDROME)

DR.NAVAKALYANI.T; DR  JANAKI.V.; DR. AMEERA AFROZ

Volume : VI, Issue : I, January - 2016

TAR– SYNDROME ( THROMBOCYTOPENIA – ABSENT RADIUS SYNDROME)

Dr. Navakalyani. T, Dr Janaki. V. , Dr. Ameera Afroz

Abstract :

Back ground: Thrombocytopenia–absent radius syndrome (TAR) is a rare autosomal recessive disorder combining specific skeletal abnormalities with a reduced platelet count. Material & method: A 3day old male baby born at 35–36 weeks of gestation to a primigravida with non–consanguinous marriage,was ought to Niloufer hospital, in view of preterm with respiratory distress. Observations &result: In this case report The child is the first male child of apparently healthy nonconsanguineous parents. The mother was 20 years old at the time of his birth. Unilateral radial deviation of the left hand. X–ray confirmed absence of radius along with absence of first metacarpal & skeleton of the thumb in left upper limb. The child alspresented with thrombocytopenia (55,000/cumm), The phenotypic features were characteristic of TAR syndrome. . Discussion&conclusion: This is a case of Atypical TAR syndrome because unilateral dysplastic radius in association with isolated thrombocytopenia, along with absence of 1st metacarpal and thumb. the identification of the 1q21.1 deletion allows for confirmation of the TAR syndrome diagnosis, particularly in patients with atypical phenotypes, and it also allows for accurate genetic counseling, especially when it occurs de novo.