Perlman syndrome

Definition:

Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in DIS3L2 cause this disease.

References:

[1]. Dewi Astuti, et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012 Feb 5;44(3):277-84. [Content Brief]

[2]. Jean-Luc Alessandri, et al. Perlman syndrome: report, prenatal findings and review. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7. [Content Brief]

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