Atlantoaxial dislocation and Down's syndrome.
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.
D001368:Axis, Cervical Vertebra / Q000000981:diagnostic imaging / Q000293:injuries*; D001270:Cervical Atlas / Q000000981:diagnostic imaging / Q000293:injuries*; D002648:Child; D004314:Down Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D004204:Joint Dislocations / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D013117:Spinal Cord Compression / Q000209:etiology