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

Polegares e hálux alargados: as marcas para o diagnóstico da síndrome de Rubinstein-Taybi

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 ¹ . 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 ^{2 , 3} .

Figure
. Note the broad thumbs (A) and broad hallux (B), the typical features described in Rubinstein-Taybi syndrome. Craniofacial abnormalities characterized by downslanting palpebral fissures, arched eyebrows, columella extending below the nares and beaked nose were also seen (C and D).

References

• ¹
  Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608.
• ²
  Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet 1990;6(Suppl):S3-S16.
• ³
  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.

Publication Dates

• Publication in this collection
  Jan 2014

History

• Received
  16 June 2013
• Reviewed
  02 July 2013
• Accepted
  09 July 2013