Thrombocytopenia absent corpus callosum syndrome: Third case of a distinctclinical entity

Thrombocytopenia absent corpus callosum, characterized by refractory thromb ocytopenia, agenesis of the corpus callosum. hypoplastic cerebellum. abnorm al facies, and developmental delay, represents a relatively newly described clinical entity. An 18-month-old girt with agenesis of the corpus callosum , hypoplasia of the cerebellar ver-mis, hypotonia, and severe developmental delay presented with thrombocytopenia. She had a distinctive facies with m icrocephaly, broad nasal root with upturned nose, small upper lip, and micr ognathia. A bone marrow aspirate and biopsy showed normal cellularity with dysplastic megakaryocytes. Thrombocytopenia absent corpus callosum is compa red with other conditions characterized by congenital non-immune thrombocyt openia.