Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: Identification of a severe phenotype
نویسندگان
چکیده
منابع مشابه
Cardio-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.
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 کاملAdult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
Activation of the RAS pathway has been implicated in oncogenesis and developmental disorders called RASopathies. Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized by congenital heart defects, distinctive facial features, short stature and ectodermal abnormalities. We recently demonstrated that mice expressing...
متن کاملCraniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
Cardio-facio-cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. CFC is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway that is downstream of receptor tyrosine kinase (RTK) signaling. RTK signaling is known to play a central role in craniofaci...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2000
ISSN: 0148-7299,1096-8628
DOI: 10.1002/1096-8628(20001113)95:2<135::aid-ajmg8>3.0.co;2-j