SINDROME DI RUBINSTEIN E TAYBI ASSOCIATA AD ARTROGRIPOSI

This report describes a typical case of the syndrome of Rubinstein Taybi (RT) which was observed in a 14 mth old female infant. The subject presented with pronounced mental retardation, was slightly underweight, and had facial dymorphism, and the typical alterations at the level of the thumbs (short, wide and radially deviated) and toes. The syndrome was associated with the presence of arthrogryposis of the lower limbs and parental consanguinity. The author advances the hypothesis that arthrogryposis in this case is linked to the typical muscular hypotonia that characterizes the RT syndrome.