Brachydactyly, Facial Abnormalities, And Mental Retardation

RUBINSTEIN and Taybi1in 1963, defined a syndrome seen in seven unrelated patients who were mentally retarded. These children had broad thumbs and toes and facial abnormalities. Subsequently, Coffin2reported six more patients with similar findings. In 1965, Taybi and Rubinstein3described an additional six new cases, and cited personal knowledge regarding more than 24 other cases. Other physical, as well as radiologic, abnormalities have been noted in these patients, but extensive biochemical and cytogenetic studies1,2have been normal. Almost all the children attained an ability to walk with a typically abnormal gait and almost all who were defined by case descriptions had poor speech development. Gross hearing defects have not been elicited. It is the purpose of this report to describe another patient with Rubinstein-Taybi syndrome who, in addition, had complete lack of expressive language as described in one previous patient (Patient 5 of Rubinstein