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J Pediatr Hematol Oncol. 2001 Oct;23(7):469-71.

Thrombocytopenia absent corpus callosum syndrome: third case of a distinct clinical entity.

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  • 1Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, Schneider Children's Hospital, Albert Einstein College of Medicine at the Long Island Jewish Medical Center, New Hyde Park, New York 11040, USA.


Thrombocytopenia absent corpus callosum, characterized by refractory thrombocytopenia, agenesis of the corpus callosum, hypoplastic cerebellum, abnormal facies, and developmental delay, represents a relatively newly described clinical entity. An 18-month-old girl with agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, hypotonia, and severe developmental delay presented with thrombocytopenia. She had a distinctive facies with microcephaly, broad nasal root with upturned nose, small upper lip, and micrognathia. A bone marrow aspirate and biopsy showed normal cellularity with dysplastic megakaryocytes. Thrombocytopenia absent corpus callosum is compared with other conditions characterized by congenital non-immune thrombocytopenia.

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