Gucev Zoran S, Pop-Jordanova Nada, Dumalovska Gordana, Stomnaroska Orhideja, Zafirovski Gorgji, Tasic Velibor B
Medical Faculty Skopje, 50 Divizija BB, 1000 Skopje, Former Yugoslav Republic of Macedonia.
Cases J. 2009 Dec 30;2:9403. doi: 10.1186/1757-1626-2-9403.
Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported.
This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrelated, young and healthy. No malformations or mental retardation have been reported in the family. Since his birth a specific posture was noted: internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. In addition, the child has a severe equinovarus deformity of the feet. Syndactily between II and III finger was also noted. His face is round with a frontal midline capillary hemangioma, while his jaw appears to be small. Mental development is normal. The karyotype is: 46, XY.
About 150 syndromes have arthrogryphosis as a presenting sign. AMC is a distinct entity and distinction with the distal forms of arthrogryphosis can be difficult, since there is a considerable clinical and genetic heterogeneity. A comprehensive musculoskeletal evaluation and genetic consultation is necessary.
先天性多发性关节挛缩症（AMC）的特征是出生时存在多个关节挛缩。受累肌肉部分或全部被脂肪或纤维组织替代。马蹄内翻足和脊柱侧弯也经常被报道。
这个2岁儿童在孕期正常，出生体重和身长正常。父母无血缘关系，年轻且健康。家族中未报告有畸形或智力发育迟缓。自出生以来就注意到一种特殊姿势：肩部内旋、肘部伸展和腕部屈曲。此外，该儿童足部有严重的马蹄内翻足畸形。还注意到第二和第三指之间有并指。他的脸圆，额部中线有毛细血管瘤，而他的下颌似乎较小。智力发育正常。核型为：46, XY。
约150种综合征以关节挛缩为表现体征。AMC是一种独特的疾病，与远端型关节挛缩症难以区分，因为存在相当大的临床和遗传异质性。进行全面的肌肉骨骼评估和遗传咨询是必要的。
