Broad Thumbs and Toes with Mental Retardation; Syndrome of Rubinstein and Taybi
نویسندگان
چکیده
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 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...
متن کاملRubinstein-Taybi Syndrome with Psychosis
Rubinstein-Taybi syndrome is characterized by a broad thumb and bulbous hallux, short stature, intellectual disability and distinctive facial features [1]. It is a rare neuro-developmental disorder with a reported prevalence of 1 in 1,25,000 births [2]. Psychosis in RTS is highly infrequent with only a few scattered case reports [3]. A comprehensive literature search yielded only one case repor...
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 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 ...
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ژورنال
عنوان ژورنال: Paediatrica Indonesiana
سال: 2017
ISSN: 2338-476X,0030-9311
DOI: 10.14238/pi14.3-4.1974.53-58