Momtchilova M, Pelosse B, Laroche L, Vazquez M P
Service d'Ophtalmologie, Hôpital d'Enfants Armand Trousseau, France.
J Fr Ophtalmol. 2001 May;24(5):479-81.
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.
威德曼-贝克威思综合征是一种具有特征性异常的先天性综合征：脐膨出、巨舌、新生儿巨大症、内脏肿大、半身肥大以及易患胚胎性肿瘤。威德曼-贝克威思综合征尚未有眼科异常的相关描述。作者报告了1例威德曼-贝克威思综合征合并双侧先天性白内障的病例。家族研究表明，威德曼-贝克威思综合征基因座与标记物11p15.5存在连锁关系。白内障的遗传学具有异质性。已经描述了几种导致先天性白内障的突变。威德曼-贝克威思综合征与白内障的关联可能有助于理解先天性白内障的遗传学。
