Rubistein-Taybi syndrome. Review of 732 cases and analysis of the typical traits

A. Cantani, D. Gagliesi

Department of Pediatrics, Medical School, “La Sapienza” University – Rome (Italy)

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• Genetics

Abstract. – In 1963 Rubinstein and Taybi described a new syndrome characterized by broad thumbs and toes, facial abnormalities and mental retardation. The syndrome can be observed in the neonatal period by typical thumbs, halluces and facial abnormalities. The prevalence in the general population is unknown, however the disorder is not rare and is present in about 1:600 patients in mental retardation clinics. At the present time there is no definite inheritance pattern and recurrence is very unlikely. 18 different chromosomal anomalies have been identified in some patients with this syndrome. In this paper we identify a typical case and review the symptoms and signs of the RT syndrome and meta-analyze 732 cases.

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