Roberts syndrome
10.3760/cma.j.issn.1009-4598.2018.08.020
- VernacularTitle: Roberts综合征研究进展
- Author:
Jing ZHOU
1
;
Xiaonan YANG
;
Zuoliang QI
Author Information
1. Plastic Surgery Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100144, China
- Publication Type:Review
- Keywords:
Roberts syndrome;
Pathogenesis
- From:
Chinese Journal of Plastic Surgery
2018;34(8):676-680
- CountryChina
- Language:Chinese
-
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.
