The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.
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.
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D011859:Radiography; D012164:Retinal Diseases / Q000235:genetics; D013577:Syndrome; D009626:Terminology as Topic