A rare coincidence: the long QT syndrome and cardio-facio-cutaneous syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Cardiology in the Young"
DOI: 10.1017/s1047951120001808
Abstract: Abstract Cardio-facio-cutaneous syndrome is a genetic anomaly characterised by craniofacial dysmorphia, developmental retardation, skin lesions, mental retardation/learning disability, and cardiac malformations. Cardio-facio-cutaneous syndrome rarely causes arrhythmias and has not been previously associated with long QT… read more here.
Keywords: cutaneous syndrome; long syndrome; facio cutaneous; cardio facio ... See more keywords
C‐type natriuretic peptide improves growth retardation in a mouse model of cardio‐facio‐cutaneous syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy333
Abstract: Abstract Cardio‐facio‐cutaneous (CFC) syndrome, a genetic disorder caused by germline mutations in BRAF, KRAS, MAP2K1 and MAP2K2, is characterized by growth retardation, heart defects, dysmorphic facial appearance and dermatologic abnormalities. We have previously reported that… read more here.
Keywords: brafq241r mice; growth retardation; cardio facio; facio cutaneous ... See more keywords
Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1160147
Abstract: Background cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from… read more here.
Keywords: cutaneous syndrome; facio cutaneous; cardio facio; case ... See more keywords