Asian Hematology Research Journal

Amegakaryocytic Thrombocytopenia with Radio-Ulnar Synostosis (ATRUS): A Case Report

Sachin Bansal

Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, Uttar Pradesh, India.

Pradeep Kumar

Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, Uttar Pradesh, India.

Ipsita Sahoo

Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.

Rajesh Kashyap

Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, Uttar Pradesh, India.

Pritish Chandra Patra

Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, Uttar Pradesh, India.

*Author to whom correspondence should be addressed.

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Abstract

The association of bone marrow failure and skeletal defects is well known. However, the genetic basis for most of these syndromes remains unclear. We describe here a syndrome of congenital amegakaryocytic thrombocytopenia (CAMT) with skeletal abnormality. This case report summarizes the clinical presentation of an infant with anemia and thrombocytopenia in which the basic work up has led to the diagnosis of ATRUS.

Keywords: Amegakaryocytic thrombocytopenia, CAMT, ATRUS syndrome, radio-ulnar synostosis.

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