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

TAR syndrome with orofacial clefting

A Midro1, E Hubert, J Preferansow

  • 1Department of Clinical Genetics, Medical Faculty, Białystok, Poland.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
PubMed
Summary

This case study presents Thrombocytopenia-Absent Radius (TAR) syndrome with orofacial clefting, an unusual combination. The patient exhibited limb defects and specific facial features, suggesting a potential link between TAR and Roberts/SC syndromes.

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

Canadian Surgery Forum.

Canadian journal of surgery. Journal canadien de chirurgie·2022
Same author

[How to set up a non-invasive ventilation?]

Revue des maladies respiratoires·2018
Same author

[Home care ventilator's settings].

Revue des maladies respiratoires·2017
Same author

Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21.

Advances in medical sciences·2008
Same author

[Radiation induced leiomyosarcoma. Review of literature and case report].

Otolaryngologia polska = The Polish otolaryngology·2008
Same author

The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.

Genetic counseling (Geneva, Switzerland)·2008

Area of Science:

  • Medical genetics
  • Developmental biology
  • Clinical case reports

Background:

  • Thrombocytopenia-Absent Radius (TAR) syndrome is a rare genetic disorder characterized by limb malformations and low platelet counts.
  • Orofacial clefting is a common congenital condition with diverse genetic and environmental causes.
  • Roberts/SC syndrome is another rare genetic disorder associated with severe limb and facial abnormalities.

Observation:

  • A patient with TAR syndrome presented with bilateral symmetric focomelia, normal thumbs, fused metacarpals, lower limb defects, and thrombocytopenia.
  • Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, and sparse blond hair.
  • The patient also exhibited bilateral cleft lip and palate, a feature not typically associated with TAR syndrome.

Findings:

  • This case highlights an unusual co-occurrence of TAR syndrome and orofacial clefting.
  • The specific limb and facial anomalies observed suggest a potential shared genetic etiology or developmental pathway between TAR syndrome and Roberts/SC syndrome.
  • The presence of normal thumbs in the context of severe limb reduction defects is a notable finding.

Implications:

  • This case expands the known phenotypic spectrum of TAR syndrome.
  • Further research into the genetic underpinnings of TAR syndrome and Roberts/SC syndrome may reveal common developmental pathways.
  • Understanding these associations can improve diagnostic accuracy and genetic counseling for affected families.

Related Experiment Videos