Related Experiment Video
Updated: May 20, 2026
09:08
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.
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.
Related Concept Videos
01:25Cardiomyopathy I: Introduction and Classification
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
01:29Cardiovascular System Abnormal Findings I: Inspection and Palpation
In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection
Abnormal findings observed during an inspection
01:23Skin Diseases and Disorders
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
01:22Pericarditis I: Introduction
Pericarditis is defined as the inflammation of the pericardium, the thin, sac-like membrane surrounding the heart. This condition can cause significant chest pain and other symptoms, often necessitating medical intervention. The pericardium has two layers: the inner visceral layer and the outer parietal layer, separated by a small amount of fluid that reduces friction during heartbeats.Types of PericarditisPericarditis can be classified into several types based on the duration and nature of the...
01:21Myocarditis I: Introduction
Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...