نتایج جستجو برای: rubinstein taybi syndrome

تعداد نتایج: 622694  

Journal: :Journal of the Indian Society of Pedodontics and Preventive Dentistry 2006
A Stalin Balagopal R Varma

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...

Journal: :European Journal of Human Genetics 2010

Journal: :Neurologia, psihiatria, neurochirurgia 1968
C J Padfield M W Partington N E Simpson

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 ...

Journal: :American journal of medical genetics. Part A 2003
Susan Wiley Susan Swayne Jack H Rubinstein Nancy E Lanphear Cathy A Stevens

Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first atte...

Journal: :Journal of medical genetics 1987
A C Berry

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...

Journal: :acta medica iranica 0
fardin mirzatolooei department of orthopedic surgery, faculty of medicine, urmia university of medical sciences, urmia, iran.

recurrent dislocation of patella may occur in patients with ligament laxity. method of treatment in this condition is controversial but patellofemoral ligament reconstruction is the most accepted method. we present a patient with rubinstein-taybi syndrome and recurrent patellar dislocation who managed successfully by patellofemoral ligament reconstruction.

Journal: :iranian journal of child neurology 0
hadi sorkhi associate professor of nephrology, non-communicable pediatric diseases research center, babol university of medical sciences, babol, iran yasser asghari vostacolaee general physician, babol university of medical sciences, babol, iran ali ghabeli juibari general physician, babol university of medical sciences, babol, iran

objective rubinstein-taybi syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. this syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingcreb-...

Journal: :Indian Journal of Psychological Medicine 2012

2011
Yinfang Shen

The research is supported by Zhejiang Provincial Education Department Research Projects (Y201016421) Abstract We achieve that the optimal solutions according to Kantorovich-Rubinstein-Wasserstein Lp−distance (p > 2) (abbreviation: KRW Lp−distance) in a bounded region of Euclidean plane satisfy a partial differential equation. We can also obtain the similar results about Monge-Kantorovich proble...

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