Perlman Syndrome: Prenatal Evidence and Postnatal Confirmed

Perlman syndrome is an extremely rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism and visceromegaly, and inherited in an autosomal recessive fashion. We here report a male infant born to consanguineous parents with prenatal history of polyhydramnios, fetal ascites, nephromegaly, corpus callosum agenesis and choroid plexus cysts, and presented with nephromegaly, hepatomegaly, cholestasis, cardiomegaly, cryptorchidism, respiratory distress, hypoglycemia, generalized muscle hypotonia after birth, and died due to progressive respiratory decompensation at the age of 6 months. He was diagnosed with Perlman syndrome (#267000) confirmed with a homozygous variant mutation in the DIS3L2 gene.