Perlman综合征的研究进展

Perlman syndrome research progress

Perlman综合征是一种罕见的以胎儿过度生长为特征的常染色体隐性遗传病,其病因为染色体2q37区DIS3L2基因的致病变异。本病患者主要表现为巨体、巨内脏、特殊面容、肾脏发育不良等,预后较差。存活的新生儿常伴有严重的智力障碍以及Wilms瘤。目前对本病的认识有限,我们通过文献回顾对本病的研究进展做一综述。

Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region.Clinically this syndrome is characterized by polyhydramnios,macrosomia,distinctive facial appearance,and renal dysplasia.Prognosis of the disease is poor,and survivors usually have mental delay and a high risk of developing Wilms tumor.At present,the pathogenesis of this disease is still poorly understood.This article intends to provide a review for this disease.