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J Med Case Rep. 2012 Jun 28;6:168. doi: 10.1186/1752-1947-6-168.

Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report.

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1
Department of Pediatrics, Xiangya Hospital of Central South University, No, 87 Xiangya Road, Changsha, Hunan, 410008, China. yf2323@hotmail.com.

Abstract

INTRODUCTION:

Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. This anomaly has not been previously reported in the children of a non- consanguineous marriage.

CASE PRESENTATION:

This case report describes a two-day-old girl baby of Arab origin with thrombocytopenia and absent radii syndrome and bilateral congenital cataract.

CONCLUSIONS:

This report describes a finding of bilateral congenital cataract associated with thrombocytopenia and absent radii syndrome that has been reported only once before in the literature. This case report highlights a new ocular manifestation in one of the bone marrow failure syndromes.

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