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Q. Rakesh Kumar, Puja Bhagat
Department of Pediatrics, Katihar Medical College, Katihar, Bihar, India

Address for Correspondence: Dr. Rakesh Kumar, Assistant Professor, Department of Pediatrics, Katihar Medical College, Katihar, Bihar, India. E-mail: drjaiswalrakesh@yahoo.co.in

A 6-years old male child, born of non-consanguineous parents was admitted with complains of paleness of the body and bleeding from gums since one year. He had been treated with multiple blood transfusions. Bone marrow examination done outside showed hypocellular marrow with depression of all the three cell lines. The diagnosis of referring physician was aplastic anemia. General examination of the body revealed marked pallor, multiple ecchymotic patches and polydactyly of the right hand. There was a supernumerary triphalangeal thumb on right hand. {Fig.1} He also had short stature, facial hyperpigmentation, microcephaly and undescended testes of the right side. The child had mild mental retardation. History of delayed achievement of milestones was also present.

What is the diagnosis_?