1. Perlman syndrome: Clinical report and nine-year follow-up
- Author
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Michela Malacarne, Giovanni Corsello, Ettore Piro, Massimiliano Cecconi, Andrea Riccio, Margherita Lo Curto, Mario Giuffrè, Maria Piccione, PICCIONE, M, CECCONI, M, GIUFFRE', M, LO CURTO, M, MALACARNE, M, PIRO, E, RICCIO, A, CORSELLO, G, Piccione, M, Ceeconi, M, Giuffre, M, Lo Curto, M, Malacarne, M, Piro, E, Riccio, Andrea, and Corsello, G.
- Subjects
macrosomia ,Pediatrics ,medicine.medical_specialty ,Polyhydramnios ,Nephroblastomatosi ,Fetal overgrowth ,Internal medicine ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,Perlman syndrome ,Child ,Nephroblastomatosis ,Genetics (clinical) ,business.industry ,Infant, Newborn ,Macrocephaly ,Infant ,Wilms' tumor ,syndrome ,medicine.disease ,Endocrinology ,Child, Preschool ,Overgrowth syndrome ,Nephromegaly ,Female ,Wilm's tumor ,medicine.symptom ,business ,Visceromegaly - 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. © 2005 Wiley-Liss, Inc.
- Published
- 2005