Weill-Marchesani's syndrome: familial involvement
Veiga de la Jara, C.; Bosch Valero, J.; Torres Suárez, E.; Mateos Sánchez, E.; Rojo Castejón, P.; Ancochea Díaz, G.
Archivos de la Sociedad Espanola de Oftalmologia 81(6): 349-352
2006
ISSN/ISBN: 0365-6691 PMID: 16804781 Document Number: 604732
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. 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.