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

Isolated diaphragmatic defect in three sibs.

H V Toriello1, G Landenburger, S J Kapur

  • 1Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.

American Journal of Medical Genetics. Supplement
|January 1, 1986
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

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

Clinical genetics·2009
Same author

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

Journal of medical genetics·2002
Same author

Telemedicine speeds up on information superhighway.

Michigan medicine·2000
Same author

A multicenter investigation with D-FISH BCR/ABL1 probes.

Cancer genetics and cytogenetics·2000
Same author

Treacher Collins syndrome.

Ear, nose, & throat journal·1999
Same author

Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome.

Clinical dysmorphology·1999

Three sisters presented with unilateral agenesis of the diaphragm, a rare congenital anomaly. This case suggests that while most diaphragmatic defects are multifactorial, monogenic causes may also exist for this developmental defect.

Area of Science:

  • Developmental biology
  • Medical genetics
  • Pediatric surgery

Background:

  • Congenital diaphragmatic defects are rare birth anomalies.
  • These defects can be associated with various syndromes or occur in isolation.
  • The etiology of isolated diaphragmatic defects is often multifactorial.

Observation:

  • A family presented with three sisters exhibiting unilateral agenesis of the diaphragm.
  • No other congenital anomalies were noted in the affected individuals.
  • This observation points towards a potential genetic component in isolated cases.

Findings:

  • The described cases represent a specific instance of diaphragmatic defect.
  • The unilateral nature and absence of other anomalies are key features.

Related Experiment Videos

  • The occurrence in multiple siblings suggests a possible monogenic etiology.

    • Implications:

    • This case highlights the causal heterogeneity of diaphragmatic defects.
    • It supports the existence of monogenic forms of isolated diaphragmatic agenesis.
    • Further research into genetic factors is warranted for understanding and managing these conditions.