Firdous Khan, Tahseen Ahmed Cheema, Muhammad Tahir.
RUBINSTEIN TAYBI SYNDROME; A very rare condition.
Professional Med J Jan ;23(07):883-6.

Rubinstein Taybi Syndrome (RTS) was first described in 1963 by Rubinstein and Taybi. The characteristic features of this syndrome include broad thumbs and toes, facial abnormalities like hypertelorism, beaked nose, micrognathia, microcephaly and mental retardation. Cardiac, renal, ophthalmological and various orthopedic problems can also occur. Prevalence in the general population is approximately 1 case per 300,000 persons and is as high as 1 case per 10,000 live births. There is no definite inheritance pattern so far and recurrence is very unlikely. In some patients, multiple chromosomal anomalies have been described. We report here a case of Rubinstein Taybi syndrome in an 18 months old girl presented with typical features which is the first case reported in our population.

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