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

Mandibulo-acral dysplasia: heterogeneity versus variability

H V Toriello1

  • 1Butterworth Hospital, Grand Rapids, MI 49503, USA.

Clinical Dysmorphology
|January 1, 1995
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

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
Same author

CHARGE association.

Ear, nose, & throat journal·1999
Same author

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

Clinical dysmorphology·1999

Mandibulo-acral dysplasia presents with variable clinical findings and onset age. This review discusses the variability and heterogeneity within this rare genetic disorder.

Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Mandibulo-acral dysplasia (MAD) is a rare genetic disorder.
  • Previous descriptions highlight a range of clinical presentations.
  • The spectrum of MAD manifestations requires further clarification.

Purpose of the Study:

  • To review the existing literature on mandibulo-acral dysplasia.
  • To discuss the observed variability in clinical findings and age of onset.
  • To explore the concept of variability versus true genetic heterogeneity in MAD.

Main Methods:

  • Comprehensive literature search for published cases of mandibulo-acral dysplasia.
  • Analysis of clinical data regarding phenotype and onset.
  • Comparative discussion of variability and heterogeneity.

Related Experiment Videos

Main Results:

  • Mandibulo-acral dysplasia exhibits significant variability in its clinical phenotype.
  • The age of onset for mandibulo-acral dysplasia is also highly variable.
  • Distinguishing between phenotypic variability and underlying genetic heterogeneity is challenging.

Conclusions:

  • The phenotypic spectrum of mandibulo-acral dysplasia is broad.
  • Further research is needed to elucidate the genetic basis for observed variability.
  • Clarifying heterogeneity is crucial for accurate diagnosis and management of MAD.