Multiple dysmorphic features and pancytopenia: a new syndrome?
Various degrees of bone marrow aplasia have been described in association with distinctive congenital anomalies such as the Fanconi Pancytopenia Syndrome (F.P.S.), Thrombocytopenia Absent Radii Syndrome (T.A.R. Syndrome) the Aase Syndrome and Diamond-Blackfan Anemia. This case report describes a child with pancytopenia and several dysmorphic features which have never collectively been described in any of the bone marrow aplasia syndromes listed above. In this paper, we report a constellation of dysmorphic features and pancytopenia which may constitute a new syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D010198:Pancytopenia / Q000235:genetics*; D013577:Syndrome