Schrander-Stumpel C, Fryns J P, Beemer F A, Rive F A
Department of Clinical Genetics, Academical Hospital Maastricht, State University of Limburg, The Netherlands.
Am J Med Genet. 1991 Mar 15;38(4):557-61. doi: 10.1002/ajmg.1320380412.
We report on 3 unrelated patients with the heterogeneous fetal hypokinesia sequence. They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome ("whistling face"), and Pierre Robin sequence. The present cases show a remarkable clinical resemblance to the 3 sibs described by Illum et al. (Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bersen A (1988): Neuropediatrics 19:186-192), where calcium deposits were found in the nervous system and skeletal muscle. The presence of severe to profound developmental retardation in the present 3 patients is equally in favour of a central nervous system abnormality as the pathogenetic basis of the fetal hypokinesia sequence with secondary facial changes and distal arthrogryposis.
我们报告了3例患有异质性胎儿运动减少序列征的非亲缘关系患者。他们患有远端关节挛缩症、严重发育迟缓、具有弗里曼-谢尔顿综合征（“吹口哨脸”）所见的面部异常以及皮埃尔·罗宾序列征。目前这些病例与Illum等人描述的3例同胞兄弟姐妹表现出显著的临床相似性（Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bersen A (1988): 《神经儿科学》19:186 - 192），在后者的神经系统和骨骼肌中发现了钙沉积。目前这3例患者中存在的严重至极重度发育迟缓同样支持中枢神经系统异常作为胎儿运动减少序列征伴继发性面部改变和远端关节挛缩症的发病基础。
