The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness

Abstract

The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or submucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.