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  • Title: [Weill-Marchesani's syndrome: familial involvement].
    Author: Veiga de la Jara C, Bosch Valero J, Torres Suárez E, Mateos Sánchez E, Rojo Castejón P, Ancochea Díaz G.
    Journal: Arch Soc Esp Oftalmol; 2006 Jun; 81(6):349-52. PubMed ID: 16804781.
    Abstract:
    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.
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