Patrícia Nascimento¹, Emília Costa¹, Beatriz Porto², José Barbot¹

¹ Unidade de Hematologia Pediátrica do Hospital Maria Pia - CHPorto

² Laboratório de Citogenética do Instituto de Ciências Biomédicas de Abel Salazar - U P

Abstract

The authors present the case of a child with complex congenital heart defect, bilateral malformation of the thumbs, hearing loss, failure to thrive and delayed psychomotor development, oriented to the hematology consultation at the age of 9 years for the presence of thrombocytopenia and macrocytosis.

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