Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome.

A 30-year-old man presented to our hospital with developmental delay, recurrent respiratory infections and short stature. Examination showed broad thumbs and hallux, beaked nose and big toes. Rubinstein-Taybi syndrome (RTS) was diagnosed based on typical clinical features. RTS was described by Rubinstein and Taybi in 19631. They reported a patient with big toes, craniofacial ab nor ma lities and mental retardation. The broad thumbs and first toes are the hallmarks for the syndrome. The diagnosis is based on clinical features (Figure). RTS is an autosomal dominant inherited disease that usually occurs as result of a de novo mutation and can also be associated to eye abnormalities, hearing loss and cardiac defects2,3.