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

Ettore Piro, Giovanni Corsello, Maria Piccione, Mario Giuffre, Michela Malacarne, Massimiliano Cecconi, Andrea Riccio, Margherita Lo Curto

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)131-135
Number of pages5
JournalAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume139A
Publication statusPublished - 2005

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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