All issues > Volume 36(10); 1993

Case Report

J Korean Pediatr Soc. 1993;36(10):1447-1451. Published online October 15, 1993.

A Case of Roberts Syndrome

Young Y Choi¹, Yo Han YH Chung¹, In Seok IS Lim¹, Chul Ha CH Kim¹, Dong Keun DK Lee¹, Seong Nam SN Kim², Sang Yong SY Song³, Je Geun JG Chi³

¹Department of Pediatrics, College of Medicine, Chung-Ang University, Seoul, Korea
²Department of Pathology, College of Medicine, Chung-Ang University, Seoul, Korea
³Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea

Abstract

Roberts syndrome is an autosomal recessive disorder accompanied by limb defects, craniofacial abnormalities, pre-and postnatal growth retardation. Patients with Roberts syndrome have characteristic premature separation of heterochromatin of many chromosomes and abnormalties in celldivision cycle. We have experienced a case of Roberts syndrome in an immature neonate. The patients showed characteristic clinical features of multiple encephaloceles. Severe facial mid-line clefts, and tertraphoco-amelia. The brief review of the literlature was made.

Keywords :Roberts syndrome, Facial mid-line clefts, Phocomelia