All issues > Volume 28(6); 1985

Case Report

J Korean Pediatr Soc. 1985;28(6):610-615. Published online June 30, 1985.

Two Cases of the Rud Syndrome in Siblings.

Mi Jeong Lee, Myung Geul Yum, Jung Hwan Choi, Chong Ku Yoon, Hyung Ro Moon

¹Department of Pediatrics,Seoul National University, College of Medicine

Abstract

The Rud syndrome, which is characterized by ichthyosis, mental retardation, seizure, dwarfism, sexual infantilism, etc., was described by Rud in 1927 at first. It is hereditary disorder whose mode of inheritance is autosomal recessive. Because the incidence of this syndrome is very rare, the Rud syndrome has not been reported till now in Korea. We experienced two cases of the Rud syndrome in siblings, so we reported here the clinical and laboratory data of these two patients along with brief review of the literatures.

Keywords :The Rud syndrome; Ichthyosis; Autosomal recessive