An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature

Abstract

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. Special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. Also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. This case report describes the first Persian MGS accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder.