title: Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder.
abstract: Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs particularly the heart, skin and face affecting males and females equally. The phenotypic features overlap with 2 other conditions, the Noonan and Costello syndrome. We report on a 22-month-old boy with CFC syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, growth failure and developmental delay. Estimated population of affected individuals worldwide is a few hundreds.
authors.affiliation: Resident, Department of Paediatrics, Burdwan Medical College and Hospital , Burdwan, West Bengal, India .
authors.forename: Soutrik
authors.initials: S
authors.lastname: Seth
authors.affiliation: Resident, Department of Paediatrics, Burdwan Medical College and Hospital , Burdwan, West Bengal, India .
authors.forename: Tanmoy
authors.initials: T
authors.lastname: Biswas
authors.affiliation: Associate Professor, Department of Paediatrics, Burdwan Medical College and Hospital , Burdwan, West Bengal, India .
authors.forename: Biswajit
authors.initials: B
authors.lastname: Biswas
authors.affiliation: Associate Professor, Department of Paediatrics, Burdwan Medical College and Hospital , Burdwan, West Bengal, India .
authors.forename: Atanu
authors.initials: A
authors.lastname: Roy
authors.affiliation: Professor and HOD, Department of Paediatrics, Burdwan Medical College and Hospital , Burdwan, West Bengal, India .
authors.forename: Asok Kumar
authors.initials: AK
authors.lastname: Datta
keywords: Costello syndrome; Noonan syndrome; RASopathies