Krakowiak P A, Bohnsack J F, Carey J C, Bamshad M
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112-5330, USA.
Am J Med Genet. 1998 Feb 26;76(1):93-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<93::aid-ajmg17>3.0.co;2-k.
We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected individuals have vertical talus, ulnar deviation, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, downslanting palpebral fissures, small mouth, and a prominent chin. A gene for DA2B maps to chromosome 11p15.5. We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome.
我们描述了一种暂时独特形式的远端关节挛缩症的临床特征。在受影响个体中观察到的异常比1型远端关节挛缩症更严重，与2A型远端关节挛缩症（弗里曼-谢尔顿综合征）中描述的异常相似但程度较轻。因此，我们将这种疾病标记为2B型远端关节挛缩症（DA2B）。受影响个体有垂直距骨、尺侧偏斜、严重的屈曲挛缩指，以及具有三角形、明显鼻唇沟、睑裂向下倾斜、小嘴和突出下巴特征的独特面容。DA2B的一个基因定位于11号染色体p15.5区域。我们认为DA2B是弗里曼-谢尔顿综合征中观察到的临床变异性的部分原因。
