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RESEARCH PRODUCT
Perlman syndrome: Clinical report and nine-year follow-up
Michela MalacarneGiovanni CorselloEttore PiroMassimiliano CecconiAndrea RiccioMargherita Lo CurtoMario GiuffrèMaria Piccionesubject
macrosomiaPediatricsmedicine.medical_specialtyPolyhydramniosNephroblastomatosiFetal overgrowthInternal medicineGeneticsmedicineHumansAbnormalities MultiplePerlman syndromeChildPerlman syndromeNephroblastomatosisGenetics (clinical)business.industryInfant NewbornMacrocephalyInfantWilms' tumorsyndromemedicine.diseaseEndocrinologyChild PreschoolOvergrowth syndromeNephromegalyFemaleWilm's tumormedicine.symptombusinessVisceromegalydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2005-11-10 | American Journal of Medical Genetics Part A |