产前诊断先天性多发性关节挛缩症的探索

Prenatal diagnosis of arthrogryposis multiplex congenital

先天性多发性关节挛缩症(arthrogryposis multiplex congenita,AMC)是一种少见的先天性疾病,产前诊断先天性多发性关节挛缩症更是罕见,国内仅有极少数例报道。我们最近报道2例,除2个或以上关节屈曲,挛缩外,其中1例的一些体征,如小下颌,颈蹼,颈部皮肤增厚,积水(水肿),上下肢蹼状畸形等国内未见报道;结合国外学者产前诊断的相关文献报道,提出先天性多发性关节挛缩症的超声产前诊断和鉴别要点,超声产前诊断先天性多发性关节挛缩症进行有价值的探索。

Arthrogryposis multiplex eongenita AMC is a congenital anomaly. Prenatal diagnosis of arthrogryposis multiplex congenita is very rare. There were only very a few cases reported in China. We recently reported 2 cases, 1 case of cases, some of the signs such as mierognathia, Webbed neck, neck skin thickening and edema, upper and lower extremity deformities and other webbed be reported. We proposed arthrogryposis multiplex congenital of ultrasound prenatal diagnosis and different diagnosis of key points. The key points are valuable.