Oculodentodigital dysplasia syndrome. Report of four cases.
Four cases of oculodentodigital dysplasia are reported. Three cases are from the same family, father and two daughers. These three cases have the characteristics typical of this disorder: narrow nose, hypoplastic alae nasi, microphthalmia, defects of the teeth, syndactylyl of the IV and V fingers, and skeletal anomalies. The fourth case differs from the earlier reported cases; he has all the typical findings of oculodentodigital dysplasia but in addition he shows features not previously reported, namely exceptionally poor vision, mental retardation, monilethrix and pili annuli changes of the hair.
D000015:Abnormalities, Multiple; D000328:Adult; D000567:Amelogenesis Imperfecta; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D013576:Syndactyly; D013577:Syndrome; D014071:Tooth Abnormalities; D014786:Vision Disorders / Q000151:congenital