Perlman syndrome
Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years .
Clinical presentation
Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramnios, neonatal macrosomia, visceromegaly, nephromegaly, fetal ascites and cryptorchidism .
Like other overgrowth syndromes, children are at a much higher risk of developing Wilms tumor .
Differential diagnosis
Differential diagnosis of Perlman syndrome includes:
Siehe auch:
Assoziationen und Differentialdiagnosen zu Perlman-Syndrom:
