Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations

Giovanni Neri, Giorgia Mancano, Maria Grazia Pomponi, A Ozcelik, K. Gucuyener

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

Cardio-facio-cutaenous (CFC) syndrome is a developmental disorder causing mental retardation and multiple congenital anomalies, including craniofacial, ectodermal, cardiac and musculoskeletal defects. Mutation of several genes in the RAS/MAPK (mitogen activated protein kinase) signaling pathway, most commonly BRAF, results in CFC syndrome. In this study, we report 3 new patients with CFC syndrome caused by mutation of BRAF. These patients differed in neurological impariment, craniofacial features and cardiac defects, while they shared relatively similar ectodermal and skeletal anomalies. They also displayed some overlapping featrues with Costello syndrome, another RAS/MAPK pathway disorder. Our findings highlight the clinical variability of CFC syndrome, with respect to severity and pattern of the affected organs, as well as the phenotypic overlap with the Costello syndrome
Lingua originaleEnglish
pagine (da-a)127-131
Numero di pagine5
RivistaNeuropediatrics
Stato di pubblicazionePubblicato - 2011

Keywords

  • cardio-facio-cutaenous syndrome

Fingerprint Entra nei temi di ricerca di 'Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations'. Insieme formano una fingerprint unica.

Cita questo