نتایج جستجو برای: rubinstein taybi syndrome
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We study the Kantorovich-Rubinstein transhipment problem when the difference between the source and the target is not anymore a balanced measure but belongs to a suitable subspace X(Ω) of first order distribution. A particular subclass X♯0(Ω) of such distributions will be considered which includes the infinite sums of dipoles ∑ k(δpk − δnk) studied in [28, 29]. In spite of this weakened regular...
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...
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...
Department of Pediatrics, Jagiellonian University Medical College, Kraków, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland and Jeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven, Belgium Correspondence to Mateusz Jagla, PhD, Department of Pediatrics, Jagiellonian University Medical College, Wielicka ...
Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with set of phenotypic features, which make up recognizable pattern the disease. This review literature highlights molecular‑genetic basis presumed pathogenesis syndrome, considers questions geno‑phenotypic correlations differential diagnosis group pathologies...
INTRODUCTION Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland. OBJECTIVE Presentation of a case of a 19-year-old patient with Rubinstein-Taybi syndrome in whom serum TSH, fT3 and fT4 levels were assessed. CASE Craniofacial abnormali...
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