Perlman syndrome

Dr Jeremy Jones and Dr Subhan Iqbal et al.

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:

Article information

rID: 84275
System: Paediatrics
Section: Syndromes
Synonyms or Alternate Spellings:

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