Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis

Seow et al. (1995) described a 12-year-old girl with generalized enamel hypoplasia of the hypomaturation-hypocalcification type, bilateral capsular cataracts, and enlarged cerebral ventricles secondary to aqueductal stenosis. They suggested that the combination may represent a 'new' syndrome. The parents were nonconsanguineous. The cataracts had been discovered approximately 18 months previously when she was investigated for headaches, easy fatigability, and deterioration in school performance.