My SciELO
Services on Demand
Journal
Article
Indicators
Cited by SciELO
Access statistics
Related links
Cited by Google
Similars in SciELO
Similars in Google
Share
Archivos de la Sociedad Española de Oftalmología
Print version ISSN 0365-6691
Abstract
VEIGA DE LA JARA, C. et al. Weill-Marchesani's syndrome: familial involvement. Arch Soc Esp Oftalmol [online]. 2006, vol.81, n.6, pp.349-352. ISSN 0365-6691.
Case report: We report the case of a child short in stature with brachydactyly and brachymorphy who was referred to our office complaining of poor vision. This was a case of Weill-Marchesanis syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. Discussion: There are few familial cases of Weill-Marchesanis syndrome reported in the literature. Both autosomal dominant and recessive inheritances have been described. The opththalmologist plays a crucial role in its diagnosis and management, since the ocular involvement is the most severe one.
Keywords : Weill-Marchesanis syndrome; familial involvement; ectopia lentis; spherophakia.