Radial aplasia, poikiloderma and auto-immune enterocolitis - new syndrome or severe form of Rothmund-Thomson syndrome?

A syndrome is described in three isolated patients in whom the main feature s are bilateral radial aplasia, short stature, an inflammatory based 'elast ic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in ind ividual cases include cleft palate, micrognathia, anal atresia, patellar ap lasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unreco gnized condition. Clin Dysmorphol 9: 79-85 (C) 2000 Lippincott Williams & W ilkins.