Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome
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منابع مشابه
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 an...
متن کاملThe Rubinstein-Taybi syndrome.
The Rubinstein-Taybi syndrome was first described in 1963. The main clinical features are mental retardation, broad thumbs and great toes, a characteristic facies, and a high-arched palate. Rubinstein and Taybi (1963) described 7 cases in the United States. Since then, small groups of patients and single examples of this syndrome have been reported in the United States (Coffin, 1964; Taybi and ...
متن کاملRubinstein Taybi syndrome.
Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of Pedodontics, Ragas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay in the developmental milestones. The patien...
متن کاملRubinstein-Taybi syndrome.
This is a rare cause of mental handicap. Case finding studies in several English speaking countries have found about one case per 300 institutionalised subjects.3 Assuming that at that time about 1 per 1000 of the general population required institutionalisation the population frequency would be about 1 in 300 000. Sex ratio, j3arental ages, pregnancy history, and birth weights have been unrema...
متن کاملRubinstein-Taybi syndrome with scoliosis
STUDY DESIGN Case report. OBJECTIVE The authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis. SUMMARY OF BACKGROUND DATA There have been no reports on surgery for RSTS presenting scoliosis. METHODS The patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at pre...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2014
ISSN: 0004-282X
DOI: 10.1590/0004-282x20130207