Rubinstein-Taybi syndrome with agenesis of corpus callosum
نویسندگان
چکیده
منابع مشابه
Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum
Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pe...
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: Journal of Pediatric Neurosciences
سال: 2015
ISSN: 1817-1745
DOI: 10.4103/1817-1745.159207