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Fifteen patients had multiple congenital anomalies; of these three had aneuploidy, four had autosomal recessive syndromes, and eight were of unknown cause. Results of chromosome analysis in 41 patients and 21 sets of parents were abnormal in three patients, one of whom had a balanced translocation carrier parent; two additional patients and three parents had apparently balanced translocations. There was one recurrence within the study (the first child had bilateral renal agenesis and the second cystic dysplasia). The ultrasound prenatal diagnosis of the renal abnormality was made in eight cases between 18 and 34 weeks. Family histories were suggestive of an autosomal dominant gene disorder with incomplete penetrance in four of 45 families with nosyndromic bilateral renal agenesis and cystic dysplasia. The evaluation of patients with the Potter sequence should include an examination for nonrenal defects, autopsy, chromosome analysis, and renal ultrasound or urologic evaluation of parents. Ultrasonographic prenatal monitoring of subsequent pregnancies in such families is strongly warranted because of a definite but unknown degree of recurrence risk.<\/jats:p>","DOI":"10.1002\/ajmg.1320190408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:24:33Z","timestamp":1118496273000},"page":"679-702","source":"Crossref","is-referenced-by-count":68,"title":["The Potter sequence: A clinical analysis of 80 cases"],"prefix":"10.1002","volume":"19","author":[{"given":"Cynthia J. 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