Molecular and Genetic Medicine

Medical Genetic Unit, Department of Pediatrics, Maternity Children Hospital, Al-Hassa Hofuf, Saudi Arabia

Publications

• Research Article   
  Neonatal Nephromegaly Due to Homozygous Variant in the DIS3L2 Gene is Consistent with the Genetic Diagnosis of Perlman Syndrome
  Author(s): Al-Buali Majed J*, Al-Sunini Muna M, Al-Faraj Jaffer S, Al-Shams Ahmed A, Al-Mohammed Salah M, Zaal Hani R and Al- Mousa Haider H
  
  Background: Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase in the size of the body or a body part of the infant often noticed at birth. The disorder, usually affects the kidneys as main findings. Perlman syndrome inherited as an autosomal recessive pattern. People with this condition are generally born with renal abnormalities also called renal hamartomas, nephroblastomatosis also been grouped with Renal cell carcinoma. The characteristic features include polyhydramnios, fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly mainly hepatomegaly and nephromegaly, dysmorphic facial features, and an increased risk for Wilms’ tumor at an early age. The prognosis of Perlman syndrome is poor with high morbidity and mortality rate. Material and Methods: We rep.. Read More»
  DOI: 10.37421/jmgm.2020.14.447

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