Whaley W J, Gray W D
Can Med Assoc J. 1980 Jul 5;123(1):35-7.
The phenotypic features of Down's syndrome are easily recognized and include characteristic facial features, hypotonia, ligament laxity, transverse palmar creases and mental subnormality. Associated manifestations and complications are also familiar and involve almost every organ system. Congenital heart defects, bowel malformations and a tendency to leukemia are common attendant problems. Less common, however, are defects of the skeletal system; in fact, the most recent edition of a standard pediatric textbook makes no mention of anomalies of the vertebral column. The purpose of this paper is to call attention to the association between Down's syndrome and atlantoaxial dislocation, which in our patient resulted in quadriplegia and eventually death.
唐氏综合征的表型特征易于识别，包括典型的面部特征、肌张力减退、韧带松弛、通贯掌和智力发育迟缓。相关的表现和并发症也较为常见，几乎累及每个器官系统。先天性心脏缺陷、肠道畸形和白血病倾向是常见的伴随问题。然而，骨骼系统缺陷则较少见；事实上，最新版的标准儿科教科书未提及脊柱异常。本文旨在提醒人们注意唐氏综合征与寰枢椎脱位之间的关联，在我们的患者中，这种关联导致了四肢瘫痪并最终死亡。
