title: [The Wiedemann-Beckwith syndrome and a congenital cataract].
abstract: Wiedemann-Beckwith syndrome is a congenital syndrome with characteristic abnormalities: omphalocele, macroglossia, neonatal gigantism, visceromegaly, hemihypertrophy and a predisposition to embryonic tumors. Ophthalmologic abnormalities have not been described with Wiedemann-Beckwith syndrome. The authors report one case of Wiedemann-Beckwith syndrome associated with bilateral congenital cataract. Family studies indicate linkage of the Wiedemann-Beckwith syndrome locus to the marker 11p15,5. The genetics of cataract is heterogenic. Several mutations responsible for congenital cataract have been described. The association of the Wiedemann-Beckwith syndrome and cataract may contribute to the understanding of the genetics of congenital cataract.
authors.affiliation: Service d'Ophtalmologie, Hôpital d'Enfants Armand Trousseau, France.
authors.forename: M
authors.initials: M
authors.lastname: Momtchilova
authors.forename: B
authors.initials: B
authors.lastname: Pelosse
authors.forename: L
authors.initials: L
authors.lastname: Laroche
authors.forename: M P
authors.initials: MP
authors.lastname: Vazquez
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics; D010375:Pedigree