Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies
نویسندگان
چکیده
منابع مشابه
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, conge...
متن کاملCardio-facio-cutaneous syndrome: a case report.
Cardio-facio-cutaneous syndrome is a genetic disorder with a characteristic facies, abnormal skin and hair, mental retardation and congenital heart disease. It may be confused with Noonan's syndrome, which has a familial pattern and does not present hyperkeratotic skin lesions and abnormal hair, and there are few cases reported in the literature. We describe the first case of typical cardio-fac...
متن کاملNeurological complications of cardio-facio-cutaneous syndrome.
Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and growth delay. Neurological complications associated with CFC remain to be clearly defined. Recent discovery of causative mutations in genes of the MAPK pathway (BRAF, MEK1, and MEK2) now permit accurat...
متن کاملCardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines abstract
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, conge...
متن کاملProceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about signif...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2011
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.30294