Okulozerebrofaziales Syndrom, Typ Kaufman
摘要
The oculocerebrofacial syndrome type Kaufmann (Kaufmann oculocerebrofacial syndrome [KOS]) is a rare clinical picture with a nonuniform but still very characteristic phenotypic appearance. Based on this case report this article describes the external clinical phenotype, the variation range between the individuals with KOS and the development up to 2 years of age.