Journal
CLINICAL DYSMORPHOLOGY
Volume 9, Issue 2, Pages 79-85Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200009020-00001
Keywords
malformation; radial aplasia; patellar atresia; poikiloderma; auto-immune enterocolitis; pyloric stenosis
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A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition. Clin Dysmorphol 9: 79-85 (C) 2000 Lippincott Williams & Wilkins.
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