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

[Mandibulofacial dysostosis].

C Moise1, D Zaboş

  • 1Centrul de Diagnostic Precoce şi Recuperare Medicală pentru Copii, Timişoara.

Oftalmologia (Bucharest, Romania : 1990)
|July 27, 1999
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

[Screening for diabetic retinopathy in Romania].

Oftalmologia (Bucharest, Romania : 1990)·1994
Same author

Potentiality of an organometallic labelled streptavidin--biotin system in metalloimmunoassay.

Journal of pharmaceutical and biomedical analysis·1991
Same author

Delayed gentamicin elimination in patients with severe preeclampsia.

American journal of obstetrics and gynecology·1985
Same journal

[Macular serpiginous choroiditis complicated by macular hole].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Therapeutic approach in persistent diabetic macular edema].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Preliminary results of treatment with aflibercept].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

MANAGEMENT OF DIABETIC RETINOPATHY, PREVALENCE AND CLINICAL CLASSIFICATION.

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Changes in intraocular pressure depending on posture].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Treatment for penetrating wound caused by metallic intraocular foreign body].

Oftalmologia (Bucharest, Romania : 1990)·2015
See all related articles

Mandibulofacial dysostosis, also known as Treacher-Collins syndrome, affects facial bone development. This case highlights characteristic cranio-facial malformations in a young adult patient.

Area of Science:

  • Genetics
  • Craniofacial Biology
  • Medical Case Reports

Background:

  • Mandibulofacial dysostosis, or Treacher-Collins syndrome, is an autosomal dominant disorder.
  • It presents with bilateral facial structure hypoplasia, including the zygomatic and mandibular bones.
  • Associated anomalies often involve the external and middle ear and ocular features.

Observation:

  • The case involves a 19-year-old patient presenting with Treacher-Collins syndrome.
  • The patient exhibited characteristic cranio-facial malformations consistent with the syndrome's diagnostic criteria.

Findings:

  • The report details the specific cranio-facial malformations observed in the patient.
  • The presentation aligns with the known variable expressivity of mandibulofacial dysostosis.

Related Experiment Videos

Implications:

  • This case contributes to the understanding of Treacher-Collins syndrome's clinical spectrum.
  • Highlights the importance of recognizing characteristic features for timely diagnosis and management.
  • Further research into genotype-phenotype correlations in mandibulofacial dysostosis is warranted.