Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature
نویسندگان
چکیده
منابع مشابه
Rubinstein 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 کاملOcular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.
AIMS To delineate the nature and frequency of ocular pathology in Rubinstein-Taybi syndrome (RTs). METHODS Literature was searched for reports describing ocular symptoms in patients with RTs. 24 RTs patients (out of a total of 73 Dutch known RTs individuals) were selected for ophthalmological and electrophysiological examination, selection being based only on the distance between a patient's ...
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.
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: Indian Journal of Human Genetics
سال: 2012
ISSN: 0971-6866
DOI: 10.4103/0971-6866.100751