Meier-Gorlin syndrome: a review of the literature

VernacularTitle:Meier-Gorlin综合征诊疗研究进展
Author: Peipei GUO ¹ ; Bo PAN ; Haiyue JIANG
Author Information

1. 中国医学科学院北京协和医学院整形外科医院整形七科　100144
Keywords: Meier-Gorlin syndrome; Diagnosis; Therapy; Pathogenesis
From: Chinese Journal of Plastic Surgery 2021;37(4):441-445
CountryChina
Language:Chinese
Abstract: Meier-Gorlin syndrome is a rare inherited disease characterized by the triad of microtia, patellar dysplasia or dysplasia, and short stature. Mutation in the genes of pre-replication complex or involved in DNA-replication is detected in the majority of patients. The diagnosis is mainly based on the typical clinical triad, special facial features and the finding of pathologic genes. The knowledge of this disease is still insufficient and this article reviews the clinical manifestations, genetic characteristics, diagnosis, differential diagnosis and treatment of this syndrome, which has some significances for the comprehensive understanding of this disease.