Cardiofaciocutaneous Syndrome:
Case Report of a Rare Disorder
Published: November 1, 2016 | DOI: https://doi.org/10.7860/JCDR/2016/21586.8811
Soutrik Seth, Tanmoy Biswas, Biswajit Biswas, Atanu Roy, Asok Kumar Datta
1. Resident, Department of Paediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.
2. Resident, Department of Paediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.
3. Associate Professor, Department of Paediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.
4. Associate Professor, Department of Paediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.
5. Professor and HOD, Department of Paediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.
Correspondence
Dr. Soutrik Seth,
Bhangakuthi, G T Road, Burdwan -713101, West Bengal, India.
E-mail: soutrik.nrs@gmail.com
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.
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