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[The Wiedemann-Beckwith syndrome and a congenital cataract]

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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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... Congenital cataract was previously described in a case report. 4 Here we report a rare finding of sectoral iris heterochromia occurring in an infant known to have BWS. ...
... 3 M momtival et al. reported a case of bilateral congenital cataract in a patient with BWS, where it was not claimed to be genetically associated. 4 Iris heterochromia has known to be associated with other genetic syndromes, for example; congenital Horner syndrome, Waardenburg syndrome, Sturge-Weber syndrome, and Fuchs heterochromic iridocyclitis 14,15,16 ; however, it has not been reported among BWS cases. Iris heterochromia can be acquired by eye trauma, chronic anterior uveitis, retained metallic intra-ocular foreign body (siderosis bulbi), ocular tumors and the use of topical prostaglandin analogues. ...
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