Stickler's syndrome

Abstract

In 1965, Stickler et al documented the association of severe myopia and degenerative joint changes in a five generation family. They termed this autosomal dominant condition hereditary progressive arthro-ophthalmopathy, but it is now more commonly called Stickler's syndrome. Two years later Stickler and Pugh noted deafness in the original proband and his mother and also remarked on a characteristic flat facial appearance. In 1972, Opitz et al pointed out the association with the Pierre-Robin sequence and Herrmann et al made an important contribution when they described 64 cases of Stickler's syndrome, stressing the variable manifestations of the condition. Controversy remains as to whether the syndrome described by Stickler is a distinct entity or should be incorporated into part of a larger connective tissue disorder which includes Marshall's, Wagner's, and Weissenbacher-Zweymuller syndromes.