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Related Experiment Video

Updated: May 20, 2026

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

Cardiofaciocutaneous syndrome: a rare entity.

S Pavithra¹, H Mallya, G S Pai

¹Derma-care, Skin and Cosmetology Center, Mangalore, Karnataka, India. docpavithra@gmail.com

Indian Journal of Dermatology

|July 28, 2012

Summary

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder causing congenital anomalies and developmental delays. This report details a unique case in a one-year-old, highlighting typical CFC syndrome manifestations.

Keywords:

Anomalies cardiofaciocutaneous syndrome defects

Related Experiment Videos

Last Updated: May 20, 2026

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

Area of Science:

Medical Genetics
Pediatric Medicine
Dermatology

Background:

Cardiofaciocutaneous (CFC) syndrome is a rare, sporadic disorder.
It is characterized by multiple congenital anomalies, intellectual disability, and distinctive facial features.

Purpose of the Study:

To report a rare case of Cardiofaciocutaneous (CFC) syndrome.
To describe the clinical presentation in a pediatric patient.

Main Methods:

Case report presentation.
Clinical examination and assessment of congenital anomalies.

Main Results:

The patient, a 1-year-old child, presented with features typical of CFC syndrome.
Multiple congenital anomalies and characteristic dysmorphic features were observed.

Conclusions:

This case underscores the importance of recognizing the diverse clinical spectrum of CFC syndrome.
Early diagnosis and management are crucial for affected children.