Thrombocytopenia Absent Corpus Callosum Syndrome: Third Case of a Distinct Clinical Entity

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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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