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Perlman sindrome: Clinical report and nine-year follow-up

  • Autori: Piccione, M.; Cecconi, M.; Giuffre, M.; LO CURTO, M.; Malacarne, M.; Piro, E.; Riccio, A.; Corsello, G.
  • Anno di pubblicazione: 2005
  • Tipologia: Articolo in rivista (Articolo in rivista)
  • OA Link:


We present the clinical and follow-up data of a female infant with Perlman syndrome from birth to the age of 9 years. 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-up documents the natural history of Perlman syndrome and allows us to establish the long-term prognosis of the affected individuals.