title: Perlman syndrome: clinical report and nine-year follow-up.
abstract: 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.
authors.affiliation: U.O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Cecconi
authors.forename: Mario
authors.initials: M
authors.lastname: Giuffrè
authors.forename: Margherita
authors.initials: M
authors.lastname: Lo Curto
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Ettore
authors.initials: E
authors.lastname: Piro
authors.forename: Andrea
authors.initials: A
authors.lastname: Riccio
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome