The most common diagnoses were syndromic craniosynostosis in 8/35 children (22.9%), among which sevenare FGFR-related and one ERF-related craniosynostosis; disorders of the RAS/MAPK pathway, termed RASopathies or RAS/MAPK syndromes in 9/35 (25.7%); disorders of the PTEN-PI3K/AKT signal ...
Genetic syndromes that include short stature are recognized by their effect on children's growth rates, by their effect on the growth rate and pubertal development in adolescence, and by the presence of stigmata associated with certain syndromes. The effects of Down, Seckel, Turner, Russell-Silver...
Machine learning tool detects the risk of genetic syndromes in children with diverse backgrounds With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a speciali...
The coverage of all the recommended vaccines in children with genetic syndromes was significantly lower than that observed in healthy controls (p < 0.05 for all the comparisons). However, when vaccinated, all of the patients, independent of the genetic syndrome from which they suffer, were ...
Many children with short stature of unknown origin show mild clinical features that can be observed in some syndromes. However, these features are not sufficient to diagnose a specific syndrome. Therefore, some special syndromes with a wide range of clinical phenotypes, especially for patients with ...
Behaviour problems in children with genetic disorders causing intellectual disability 来自 Semantic Scholar 喜欢 0 阅读量: 20 作者:Einfeld,Stewart L.摘要: This paper reviews several genetic syndromes that are associated with intellectual disability. The specific focus is on the behavioural patterns ...
Our objective was to evaluate morbidity and mortality associated with extracorporeal membrane oxygenation (ECMO) in children with genetic syndromes and heart disease. We conducted a retrospective review of all children with heart disease and genetic syndromes receiving ECMO during the period January 2000 ...
particularly for certain adult tumors, was found in the relatives of children with choroid plexus tumors and rhabdomyosarcomas, which suggests that other syndromes or predisposing factors may exist.In summary, this thesis adds new data suggesting that hereditary factors play a role in the development...
All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, ...
WBS should be included among the genetic syndromes associated with T2DM. Further studies are necessary to evaluate the etiopathogenesis of this aspect. 展开 关键词: Williams-Beuren syndrome Type 2 diabetes Insulin resistance Impaired glucose tolerance Diabetes Metabolic syndrome ...