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 1963 11 . Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608. . They reported a patient with big toes, craniofacial abnormalities 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 defects 22 . Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet 1990;6(Suppl):S3-S16. , 33 . Kumar S, Suthar R, Panigrahi I, Marwaha RK. Rubinstein-Taybi syndrome: clinical profile of 11 patients and review of literature. Indian J Hum Genet. 2012;18:161-166. .
References
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1Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608.
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2Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet 1990;6(Suppl):S3-S16.
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3Kumar S, Suthar R, Panigrahi I, Marwaha RK. Rubinstein-Taybi syndrome: clinical profile of 11 patients and review of literature. Indian J Hum Genet. 2012;18:161-166.
Publication Dates
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Publication in this collection
Jan 2014
History
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Received
16 June 2013 -
Reviewed
02 July 2013 -
Accepted
09 July 2013