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

Familial crossed polysyndactyly

D J Goldstein1, M Kambouris, R E Ward

  • 1Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285.

American Journal of Medical Genetics
|April 15, 1994
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

Milk polar lipids modulate lipid metabolism, gut permeability, and systemic inflammation in high-fat-fed C57BL/6J ob/ob mice, a model of severe obesity.

Journal of dairy science·2019
Same author

Reply to letter to the editor: high-intensity interval training vs. moderate-intensity continuous training: the lack of equalization, an ongoing problem.

Obesity reviews : an official journal of the International Association for the Study of Obesity·2017
Same author

Consumer sensory evaluation and chemical composition of beef gluteus medius and triceps brachii steaks from cattle finished on forage or concentrate diets.

Journal of animal science·2017
Same author

The effects of high-intensity interval training vs. moderate-intensity continuous training on body composition in overweight and obese adults: a systematic review and meta-analysis.

Obesity reviews : an official journal of the International Association for the Study of Obesity·2017
Same author

A novel autosomal recessive "Huntington's disease-like" neurodegenerative disorder in a Saudi family.

Saudi medical journal·2016
Same author

Legume finishing provides beef with positive human dietary fatty acid ratios and consumer preference comparable with grain-finished beef.

Journal of animal science·2016
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

A rare genetic condition called crossed polysyndactyly, affecting hands and feet, was identified in a family over six generations. This autosomal dominant trait presents a unique pattern not fitting current classifications.

Area of Science:

  • Medical Genetics
  • Human Physiology
  • Developmental Biology

Background:

  • Polysyndactyly and syndactyly are congenital limb malformations with diverse genetic etiologies.
  • Existing classifications categorize these conditions based on limb involvement and inheritance patterns.
  • Understanding novel presentations is crucial for accurate diagnosis and genetic counseling.

Observation:

  • A unique form of "crossed" polysyndactyly was observed in a six-generation family with five affected males.
  • The condition exhibits postaxial polydactyly of the hands and preaxial polydactyly of the feet.
  • Syndactyly of the feet was bilateral in all affected individuals, with hand syndactyly present in some.

Findings:

  • The observed polysyndactyly pattern is distinct and does not align with the established Temtamy and McKusick classification.

Related Experiment Videos

  • Evidence suggests an autosomal dominant inheritance pattern with male-to-male transmission across multiple generations.
  • This case highlights the need for expanding the current classification of limb malformation syndromes.

    • Implications:

    • This study contributes to a more comprehensive understanding of polysyndactyly and syndactyly spectrum disorders.
    • The findings may aid in refining diagnostic criteria and genetic counseling for families with limb malformations.
    • Further research into the genetic underpinnings of this specific crossed polysyndactyly is warranted.