Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships. Survival is predicted by differences among various germline mutations in the DIS3L2 gene on chromosome 2q37.1, with prolonged survival documented in heterozygous mutations allowing partial exoribonuclease function. Although homozygous deletions of exon 9 are rare and have been associated with poor survival, we describe a case report of the only known patient with Perlman syndrome to live past 2 years old with this deletion. Diligent management and surveillance may be associated with prolonged survival in Perlman syndrome.