Multiple Congenital Abnormalities Associated With Cryptophthalmia

Abstract

A 13-year-old white boy exhibiting multiple congenital deformities associated with cryptophthalmia is presented. For the first time in this abnormality, the size of the eyes is measured by ultrasound and the motility of the globes demonstrated with the electroencephalogram. The patient's left eye has definite color differentiation, an observation that has to our knowledge never been reported with this syndrome. The case is discussed because of its rarity; in the American literature patients with cryptophthalmia have not had as many diverse congenital abnormalities as the one reviewed here.