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

Coffin-Lowry syndrome.

Sanjeev R Ahuja1, Shubhangi Upadhye, Hemant V Kulkarni

  • 1Division of Pediatric Neurology, Department of Pediatrics, L.T.M. Medical College & L.T.M.G. Hospital, Sion, Mumbai, India. drsanjeevahuja73@hotmail.com

Indian Journal of Pediatrics
|January 15, 2004
PubMed
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

Author's reply.

Indian journal of pediatrics·2017
Same author

Rett syndrome: a case report and overview.

Journal of the Indian Medical Association·2006
Same author

Boutonneuse fever in a child: a case report and overview.

Journal of the Indian Medical Association·2004
Same author

Bilateral anotia with congenital hypothyroidism.

Indian journal of pediatrics·2004
Same author

Candida tropicalis meningitis in a young infant.

Indian journal of pediatrics·2004
Same author

Arthritis in HIV.

Indian journal of pediatrics·2003

Coffin-Lowry syndrome causes severe intellectual disability, growth issues, and skeletal problems. Early diagnosis in children is crucial for genetic counseling and managing skeletal deformities.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Coffin-Lowry syndrome is a genetic disorder characterized by intellectual disability, growth retardation, distinctive facial features, and skeletal abnormalities.
  • The syndrome's genetic basis and phenotypic variability necessitate accurate diagnostic approaches.

Observation:

  • A case report details a one-and-a-half-year-old boy presenting with the classical features of Coffin-Lowry syndrome.
  • The patient exhibited severe mental and growth retardation, along with characteristic dysmorphic features and skeletal anomalies.

Findings:

  • The clinical presentation strongly indicated Coffin-Lowry syndrome, aligning with established diagnostic criteria.
  • Detailed observation of the patient's physical and developmental status confirmed the syndrome's manifestations.

Related Experiment Videos

Implications:

  • Early identification of Coffin-Lowry syndrome is vital for timely genetic counseling.
  • Prompt diagnosis facilitates the prevention and management of progressive skeletal deformities, improving patient outcomes.