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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。
Arthrocyposis multiplex congenita (AMC) is a rare congenital disease, prenatal diagnosis of congenital multiple contracture is rare, only a very small number of cases reported. We recently reported 2 cases, in addition to 2 or more joints flexion, contracture, including 1 case of some signs, such as small jaw, webbed neck, thickened neck skin, water (edema), upper and lower limb web deformities and other domestic No reports have been reported. Based on the literature reports of prenatal diagnosis by foreign scholars, this paper puts forward the key points of prenatal diagnosis and differential diagnosis of congenital multiple joint deformities and the valuable exploration of ultrasonic prenatal diagnosis of congenital multiple joint deformities.