Perlman sindrome: Clinical report and nine-year follow-up
- Authors: Piccione, M.; Cecconi, M.; Giuffre, M.; LO CURTO, M.; Malacarne, M.; Piro, E.; Riccio, A.; Corsello, G.
- Publication year: 2005
- Type: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/4099
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.