High Quality Content by WIKIPEDIA articles! Perlman syndrome (PS)
(also called renal hamartomas, nephroblastomatosis and fetal
gigantism) is a rare overgrowth disorder present at birth. It is
characterized by polyhydramnios, fetal overgrowth, including
macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial
features, and an increased risk for Wilms' tumor at an early age.
The prognosis for Perlman syndrome is severe and associated with
high neonatal mortality. The diagnosis of Perlman syndrome is based
on observed phenotypic features and confirmed by histological
examination of the kidneys. Prenatal diagnosis is possible for
families that have a genetic disposition for Perlman syndrome
although there is no conclusive laboratory test to confirm the
diagnosis. Using ultrasound diagnosis, Perlman syndrome has been
detected at 18 weeks.
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