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Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor. In our patient, the nephromegaly with nephroblastomatosis was not present at birth or during the neonatal period; it became evident in the first months of postnatal life. A Wilm's tumor was diagnosed when she was about 1 year old. Long term follow\u2010up documents the natural history of Perlman syndrome and allows us to establish the long\u2010term prognosis of the affected individuals. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30994","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T18:55:12Z","timestamp":1132167312000},"page":"131-135","source":"Crossref","is-referenced-by-count":20,"title":["Perlman syndrome: Clinical report and nine\u2010year follow\u2010up"],"prefix":"10.1002","volume":"139A","author":[{"given":"Maria","family":"Piccione","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimiliano","family":"Cecconi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Giuffr\u00e8","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita 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