Archivos de la Sociedad Espanola de Oftalmologia · 2006
[Weill-Marchesani's syndrome: familial involvement].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Veiga de la Jara C, Bosch Valero J, Torres Suárez E, Mateos Sánchez E, Rojo Castejón P, Ancochea Díaz G
Аннотация
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.
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.