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  • Title: [The Wiedemann-Beckwith syndrome and a congenital cataract].
    Author: Momtchilova M, Pelosse B, Laroche L, Vazquez MP.
    Journal: J Fr Ophtalmol; 2001 May; 24(5):479-81. PubMed ID: 11397983.
    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.
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