The Weissenbacher-Zweymüller syndrome: Possible neonatal expression of the Stickler syndrome

Abstract

The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.