Electrocardiographic and echocardiographic findings in a cohort of patients with Costello Syndrome and Cardiofaciocutaneous Syndrome
نویسندگان
چکیده
منابع مشابه
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
OBJECTIVES To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). PATIENTS AND METHODS Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused o...
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ABSTRACT: Mitral Valve Prolapse (WVP) in one of the commonest cardiac abnormalities. Echocardiography has generally been accepted as the diagnostic modality of choice, To assess the characteristic symptoms signs and electrocardiographic abnormalities of MVP results of prospective 500 age and sex matched healthy subjects without echocardiographic MVP (control subjects). The diagnostic criteria...
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چکیده ندارد.
Cardiofaciocutaneous Syndrome
DEFINITION Cardiofaciocutaneous (CFC) syndrome is a relatively rare genetic disorder first described by Reynolds et al. in 1986 based on the observation of eight unrelated patients with very similar facial appearance characterized by unusually sparse, brittle, curly hair, large head (macrocephaly), a prominent forehead, and abnormal narrowing of the sides of the forehead (bitemporal constrictio...
متن کاملCardiofaciocutaneous Syndrome With Occipital Encephalocele
Cardiofaciocutaneous (CFC) syndrome is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by growth failure, distinctive facial appearance, ectodermal abnormalities, and congenital heart defects1. Around 100 cases have been reported in literature to date. We describe here a child with features of cardiofaciocutaneous syndrome. Parental consanguinity and occi...
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ژورنال
عنوان ژورنال: Archives of Cardiovascular Diseases Supplements
سال: 2017
ISSN: 1878-6480
DOI: 10.1016/s1878-6480(17)30934-5