Perlman Syndrome with Deletion of DIS3L2 Gene

Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith-Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson-Golabi-Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm's tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).