Hageman G, Willemse J
Neuropediatrics. 1983 Feb;14(1):6-11. doi: 10.1055/s-2008-1059546.
The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of their onset. On the issue of the etiology it is made clear that a great number of pathological processes causing immobilisation of limbs of a fetus during or shortly after the embryonic formation of joints may result in AMC. Causes of decreased fetal movement are disorders of the developing motor system on all levels and inadequacy of the environment of the fetus. Decreased fetal movements are characteristic during pregnancy. Perinatal complications of AMC are common due to malpresentation provoked by the rigid fixated joints. The incidence, heredity, therapy and prognosis are briefly reviewed. Special attention is drawn to CNS aspects: cerebral disorders causing AMC and cerebral complications resulting from the condition. Finally it is stated that the definition and classification of AMC may need further revision in the future. Moreover, it is advocated that the cerebral aspects of AMC require further study.
讨论了先天性多发性关节挛缩症（AMC）的定义和临床表现，并列出了相关的异常、畸形和综合征。强调在（进行性）神经肌肉疾病中，孤立的先天性挛缩可能是AMC的表现，这取决于其发病时间。关于病因问题，明确指出在关节胚胎形成期间或之后不久，大量导致胎儿肢体固定的病理过程可能导致AMC。胎儿运动减少的原因包括各级运动系统发育障碍和胎儿环境不足。孕期胎儿运动减少具有特征性。由于僵硬固定关节引起的胎位异常，AMC的围产期并发症很常见。简要回顾了发病率、遗传、治疗和预后。特别关注中枢神经系统方面：导致AMC的脑部疾病以及该病症引起的脑部并发症。最后指出，AMC的定义和分类未来可能需要进一步修订。此外，主张对AMC的脑部方面进行进一步研究。
