Costello syndrome: Clinical phenotype, genotype, and management guidelines
نویسندگان
چکیده
منابع مشابه
Anaesthetic Management in Costello Syndrome.
Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...
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BACKGROUND Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the more distinctive features in childhood is the development of facial warts, often nasolabial and in other moist body surfaces. Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRA...
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Congenital long QT syndrome (LQTS) is a genetically heterogeneous group of heritable disorders of myocardial repolarization linked by the shared clinical phenotype of QT prolongation on electrocardiogram and an increased risk of potentially life-threatening cardiac arrhythmias. At the molecular level, mutations in 15 distinct LQTS-susceptibility genes that encode ion channel pore-forming α-subu...
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The past decade has seen unparalleled advances in the application of molecular genetic methods to the study of neurodevelopmental disorder, including disorders with significant learning disability.* Alongside this development there has been a substantial growth in the number of studies attempting to link genomic changes (deletion, reduplication, or silencing of genes) to cognitive and behaviour...
متن کاملCostello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2019
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.61270