Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome.
In the pathology of malformations it is only in very few cases possible to identify a complete syndromal picture; the authors present some multimalformative syndromes, observed in the past few years at the Department of Pediatric Ophthalmology of the University of Siena. The ocular findings are reported and discussed in relation with the general features in order to make a correct diagnosis.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002386:Cataract / Q000151:congenital; D005124:Eye Abnormalities; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D008831:Microcephaly / Q000150:complications; D008844:Micrognathism / Q000150:complications; D008850:Microphthalmos / Q000150:complications; D009216:Myopia / Q000150:complications; D013577:Syndrome; D014034:Toes / Q000002:abnormalities