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-...

Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It characterized short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs toes. occurs estimated 1 1,25000 3,00000 births. Diagnosis mainly depends upon presence of features, abnormal facies, abnormaliti...

We propose the use of the Kantorovich-Rubinstein norm from optimal transport in imaging problems. In particular, we discuss a variational regularisation model endowed with a Kantorovich-Rubinstein discrepancy term and total variation regularization in the context of image denoising and cartoon-texture decomposition. We point out connections of this approach to several other recently proposed me...

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...

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...

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...