A new syndrome: congenital thrombocytopenia, robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay

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Abstract

We present two female children with a distinctive pattern of malformation including persistent thrombocytopenia. Robin sequence, agensesis of the corpus caliosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient I presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agenesus of the corpus callosum. Her thrombocytopenia has beeb persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow up she has mental retardation. Microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence. Agenesis of the corpus callosum, a sikilar face to case I and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes, She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.

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