Roberts syndrome / 中华整形外科杂志

ABSTRACT

Roberts syndrome (RBS, OMIM 268300) is a rare autosomal recessive disease, characterized by retardation before and after birth, cranial and maxillofacial deformities, limb anomalies and mental retardation, etc. Mutations in the establishment of cohesion 1 homolog 2(ESCO2) gene on the chromosome of 8p21.1 have been found to be causative for RBS.Here we systematically review this rare disease and summarize the pathogenic mechanisms and process in its treatment.