Perlman syndrome

Last revised by Jeremy Jones on 19 Nov 2020

Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4.

Clinical presentation

Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramnios, neonatal macrosomia, visceromegaly, nephromegaly, fetal ascites and cryptorchidism 1-4

Like other overgrowth syndromes, children are at a much higher risk of developing Wilms tumor 1-4.

Differential diagnosis

Differential diagnosis of Perlman syndrome includes:

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