Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Naxos disease.

B Adhisivam1, S Mahadevan

  • 1Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) Pondicherry, India.

Indian Journal of Pediatrics
|July 4, 2006
PubMed
Summary
This summary is machine-generated.

Naxos disease, a rare genetic disorder, presents with wooly hair, palmoplantar keratoderma, and dilated cardiomyopathy. This case study describes the condition in two siblings from India.

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

Beyond Survival and Discharge: Improving High-Risk Follow-Up in NICU Graduates.

Indian journal of pediatrics·2026
Same author

Challenging the fitness cost: expression of the cryptic E. coli bgl operon lacks a measurable growth disadvantage in exponential phase.

Archives of microbiology·2026
Same author

Predicting Broncho Pulmonary Dysplasia in Preterm Infants.

Indian journal of pediatrics·2024
Same author

Does Early Fortification of Human Milk Decrease Time to Regain Birth Weight as Compared to Late Fortification Among Preterm Infants? - A Randomized Controlled Trial.

Indian journal of pediatrics·2024
Same author

Point of Care Diagnostic Markers for Neonatal Sepsis.

Indian journal of pediatrics·2024
Same author

Effect of Electronic Infrared Tap With Voice Reinforcement on Hand Hygiene Compliance of Healthcare Personnel.

Indian pediatrics·2023
Same journal

Therapeutic Lung Lavage in Severe Exogenous Lipoid Pneumonia Following Sewing Machine Oil Ingestion.

Indian journal of pediatrics·2026
Same journal

Assessment of Linear Growth in Children with Idiopathic Nephrotic Syndrome.

Indian journal of pediatrics·2026
Same journal

ILCOR Pediatric Life Support 2025: What is New and Why it Matters?

Indian journal of pediatrics·2026
Same journal

Prolidase Deficiency Mimicking Primary Immunodeficiency in a Toddler with Recurrent Infections.

Indian journal of pediatrics·2026
Same journal

Hematohidrosis in a Child: Authors' Reply.

Indian journal of pediatrics·2026
Same journal

Amebic Meningoencephalitis in Rural Eastern Indian Children: An Underrecognised Burden.

Indian journal of pediatrics·2026
See all related articles

Area of Science:

  • Genetics
  • Cardiology
  • Dermatology

Background:

  • Naxos disease is a rare autosomal recessive disorder.
  • It is characterized by a specific triad of clinical features.
  • Previous cases have been reported globally, but this is the first from the Indian subcontinent.

Observation:

  • Two children from the same Indian family presented with wooly hair, palmoplantar keratoderma, and dilated cardiomyopathy.
  • Clinical and echocardiographic evaluations confirmed the diagnosis.
  • Genetic analysis was performed to identify the causative mutation.

Findings:

  • The affected children exhibited the classical phenotype of Naxos disease.
  • Dilated cardiomyopathy was a significant finding, impacting cardiac function.

Related Experiment Videos

  • The study aimed to document this rare condition in a new ethnic population.

    • Implications:

    • This report expands the known geographical distribution of Naxos disease.
    • Understanding the genetic basis in diverse populations is crucial for diagnosis and counseling.
    • Further research is needed to explore genotype-phenotype correlations in Naxos disease.