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

The Costello syndrome

B Say1, M Güçsavaş, H Morgan

  • 1H.A. Chapman Research Institute of Medical Genetics, Tulsa, Oklahoma.

American Journal of Medical Genetics
|August 15, 1993
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

Rapid impedance-based Antimicrobial Susceptibility Testing (iFAST) of Enterobacterales in urinary tract infections.

The Journal of infection·2025
Same author

Alpha-1 antitrypsin limits neutrophil extracellular trap disruption of airway epithelial barrier function.

Frontiers in immunology·2023
Same author

Assessment of the optic nerve using strain and shear-wave elastography in patients with pseudotumour cerebri.

Clinical radiology·2020
Same author

Reducing Asthma Attacks in Children using Exhaled Nitric Oxide as a biomarker to inform treatment strategy: a randomised trial (RAACENO).

Trials·2019
Same author

A novel oncostatin M/interleukin-31 receptor mutation in familial primary localized cutaneous amyloidosis.

Clinical and experimental dermatology·2019
Same author

Interprofessional education and practice guide: designing ethics-orientated interprofessional education for health and social care students.

Journal of interprofessional care·2018
Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002
See all related articles

Costello syndrome is a rare genetic disorder characterized by congenital malformations, developmental delays, and papillomas. This case report details a patient with previously unreported Costello syndrome features, including hydrocephalus and cardiac abnormalities.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Costello syndrome is a rare genetic disorder characterized by multiple congenital malformations, growth and developmental retardation, and papillomas.
  • First described by Costello in 1971 and 1977, the syndrome has since had additional cases reported, establishing it as a distinct clinical entity.

Observation:

  • This report details a patient with Costello syndrome presenting with previously unreported malformations.
  • The patient exhibited hydrocephalus, seizures, atrial fibrillation, atrial flutter, and a congenital laryngeal web with papillomata.
  • Notably, the patient lacked the typical nasal papillomata but had laryngeal involvement.

Findings:

  • Skin and muscle biopsies were performed to rule out storage diseases and other abnormalities.

Related Experiment Videos

  • Skin biopsy showed no evidence of lipid or mucopolysaccharide storage.
  • Muscle biopsy results were normal upon gross and electron microscopic examination.

    • Implications:

    • This case expands the known spectrum of Costello syndrome manifestations.
    • Highlighting the variability of the syndrome is crucial for accurate diagnosis and management.
    • Further research into the genetic underpinnings and phenotypic variability of Costello syndrome is warranted.