DOI: http://dx.doi.org/10.18203/issn.2454-2156.IntJSciRep20164841

Thrombocytopenia absent radii syndrome in a twenty five day old female neonate: a case report

Mohammed Danfulani, Abubakar Musa, Sadisu M. Ma'aji, Sule A. Saidu, Muhammad A. Musa

Abstract


Thrombocytopenia absent radii (TAR) is a rare genetic disorder associated with multiple additional anomalies. We report a case of a 25 day old female neonate with thrombocytopenia and bilateral absent radii with flexion of the elbow joint and radial deviation of the wrist joint. TAR, although rare are not uncommon. Thus, we have presented a 25 day old neonate with radiological features of absent radii and fluctuating platelet counts that subsequently showed thrombocytopenia that warranted the diagnosis of TAR syndrome in this case.

 


Keywords


Thrombocytopenia, Radii, Syndrome, Neonate

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References


Omran A, Sahmoud S, Peng J, Ashhab U, Yin F. Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report. J Med Case Rep. 2012;6(1):1-5.

Hall JG. Thrombocytopenia and absent radius (TAR) syndrome. J Med Gen. 1987;24(2):79.

Alao O, Aremu A, Adetiloye V, Ayoola A, Asaleye C, Oyedeji O. Thrombocytopenia and absent radius (TAR) syndrome. Internet J Radiol. 2006;5(2):1-4.

Hall JG, Levis J, Kuhn JP, Lipton JM. Thrombocytopenia and absent radius. A review of 100 cases. AMJ pediatr Hematol. 1988;10(1):51-64.

Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, Van Berkum KP, Mckusick VA. Thrombocytopenia with absent radius (TAR). Medicine. 1969;48(6):411-40.

Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genetics. 2002;39(12):876-81.

Hagiwara T, Miyazaki H, Hirayama KI, Dobashi H, Kogawa K, Yoshioka S, et al. Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro. J Ped Hematol/Oncol. 1998;20(1):74-8.

Hays RM, Bartoshesky LE, Feingold M. New features of thrombocytopenia and absent radius syndrome. Birth Defects. 1981;18(3):115-21.

Wammanda RD, Ogala WN, Mamman AI. Radial Aplasia Syndrome-A Case Report. Nigerian J Surg Res. 2000;2:92-4.