Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Cardiofaciocutaneous syndrome.

L C Ades¹, D O Sillence, M Rogers

¹Medical Genetics Unit, Children's Hospital, Camperdown, NSW, Australia.

Clinical Dysmorphology

|July 1, 1992

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Advanced Practice Nurse Perceptions of Spirituality: A Global Quantitative Perspective in Everyday Life and Practice Settings.

Journal of holistic nursing : official journal of the American Holistic Nurses' Association·2025

Same author

Thin film epitaxial [111] Co[Formula: see text]Pt[Formula: see text]: structure, magnetisation, and spin polarisation.

Scientific reports·2023

Same author

Comparison of static and dynamic <i>in vitro</i> digestibility and bioaccessibility of palm-based emulsions and correlation to a human study: effects of triacylglycerol crystallinity.

Food & function·2023

Same author

Single cell multi-omics characterise discrete human tendon cells populations that persist in vitro and on fibrous scaffolds.

European cells & materials·2022

Same author

Agent-based epidemiological modeling of COVID-19 in localized environments.

Computers in biology and medicine·2022

Same author

Partial Budget Analysis of Exclusion Netting and Organic-certified Insecticides for Management of Spotted-wing Drosophila (Diptera: Drosophilidae) on Small Farms in the Upper Midwest.

Journal of economic entomology·2021

This report details a pediatric case of cardiofaciocutaneous syndrome, highlighting significant dermatological and skeletal abnormalities. Novel neuro-ophthalmologic findings were also observed in this young patient.

Area of Science:

Genetics and Developmental Biology
Dermatology
Pediatric Medicine

Background:

Cardiofaciocutaneous syndrome (CFC syndrome) is a rare genetic disorder characterized by distinctive facial features, cardiac defects, and ectodermal abnormalities.
Early diagnosis and comprehensive management are crucial for improving outcomes in affected individuals.
Understanding the phenotypic variability is essential for clinical practice.

Observation:

A 6-year-old boy presented with cardinal features of CFC syndrome.
He exhibited early total alopecia, persistent hypotrichosis, and inflammatory hyperkeratotic dermatosis with psoriasiform characteristics.
Skeletal manifestations included bilateral progressive femoral valgus deformity leading to unilateral hip subluxation.

Findings:

Related Experiment Videos

The patient displayed a unique combination of dermatological findings, including scalp, trunk, and limb involvement.

The described psoriasiform dermatosis represents a significant cutaneous manifestation.

Novel neuro-ophthalmologic findings, not previously reported in CFC syndrome literature, were documented.

Implications:

This case expands the known spectrum of clinical manifestations in CFC syndrome.
The reported neuro-ophthalmologic findings warrant further investigation in larger cohorts.
Enhanced understanding of CFC syndrome's diverse presentation aids in clinical diagnosis and patient management.