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-Marchesani’s 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-Marchesani’s 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-Marchesani’s syndrome; familial involvement; ectopia lentis; spherophakia.

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