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首页> 外文期刊>American journal of medical genetics, Part A >Costello syndrome: Clinical phenotype, genotype, and management guidelines
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Costello syndrome: Clinical phenotype, genotype, and management guidelines

机译：Costello综合征：临床表型，基因型和管理指南

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摘要

Abstract Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS . Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence‐based guidelines due to the lack of data for this rare condition.
机译：摘要Costello综合征（CS）是一种由活力激活HRAS中的种系突变引起的骚扰。由于普遍存在的HRAS基因表达，CS影响多个器官系统，并且倾向于癌症。具有CS的个体可能具有独特的颅面特征，心脏异常，生长和发育延迟，以及皮肤病，骨科，眼和神经问题;然而，存在相当大的重叠与其他RasoPathies存在。医学评估需要了解多方面表型。由于CS的罕见，亚特色主义者可能在关心这些人的关心经验有限。此外，表型呈现可以随潜在的基因型而变化。这些准则是由跨学科专家团队制定的，以鼓励及时医疗实践，并为主要和专业护理提供者提供医疗管理指南，以及家庭和受影响的个人在他们的生活中。这些指南基于专家意见，并且由于这种罕见条件的数据缺乏数据，不代表基于证据的指导方针。

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    Gripp Karen W.; Morse Lindsey A.; Axelrad Marni; Chatfield Kathryn C.; Chidekel Aaron; Dobyns William; Doyle Daniel; Kerr Bronwyn; Lin Angela E.; Schwartz David D.; Sibbles Barbara J.; Siegel Dawn; Shankar Suma P.; Stevenson David A.; Thacker Mihir M.; Weaver K. Nicole; White Sue M.; Rauen Katherine A.;

  • 作者单位

    Division of Medical Genetics Department of PediatricsA.I. duPont Hospital for ChildrenWilmington;

    Ferre InstituteBinghamtonNew York New York;

    Psychology Section Department of PediatricsBaylor College of MedicineHouston Texas;

    Section of Cardiology Department of PediatricsUniversity of Colorado School of MedicineAurora;

    Division of Pulmonology Department of PediatricsA.I. duPont Hospital for ChildrenWilmington;

    Division of Medical GeneticsSeattle Children's HospitalSeattle Washington;

    Division of EndocrinologyA.I. duPont Hospital for ChildrenWilmington Delaware;

    Manchester Center for Genomic MedicineUniversity of ManchesterManchester UK;

    Medical Genetics Unit Department of PediatricsMassGeneral Hospital for ChildrenBoston Massachusetts;

    Psychology Section Department of PediatricsBaylor College of MedicineHouston Texas;

    Division of PediatricsErasmus MC‐Sophia Children's HospitalRotterdam the Netherlands;

    Department of DermatologyMedical College of WisconsinMilwaukee Wisconsin;

    Division of Genomic Medicine Department of PediatricsUniversity of California DavisSacramento;

    Division of Medical Genetic Department of PediatricsStanford UniversityPalo Alto California;

    Department of Orthopedic SurgeryNemoirs‐Alfred I. duPont Hospital for ChildrenWilmington Delaware;

    Division of Human GeneticsUniversity of Cincinnati College of Medicine Cincinnati Children's;

    Victorian Clinical Genetics ServicesRoyal Children's HospitalVictoria Australia;

    Division of Genomic Medicine Department of PediatricsUniversity of California DavisSacramento;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    Costello syndrome; HRAS mutation; management guidelines; RAS/MAPK; RASopathy;

    机译：Costello综合征;HRAS突变;管理指南;RAS / MAPK;Rasopathy;

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