Mandibulofacial Dysostosis
"Mandibulofacial Dysostosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
| Descriptor ID |
D008342
|
| MeSH Number(s) |
C05.116.099.370.231.576 C05.660.207.231.576 C16.131.621.207.231.576
|
| Concept/Terms |
Mandibulofacial Dysostosis- Mandibulofacial Dysostosis
- Dysostoses, Mandibulofacial
- Dysostosis, Mandibulofacial
- Mandibulofacial Dysostoses
- Treacher Collins-Franceschetti Syndrome
- Mandibulofacial Dysostosis (MFD1)
- Treacher Collins Syndrome
- Collins Syndrome, Treacher
- Syndrome, Treacher Collins
- Franceschetti-Zwahlen-Klein Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Mandibulofacial Dysostosis".
Below are MeSH descriptors whose meaning is more specific than "Mandibulofacial Dysostosis".
This graph shows the total number of publications written about "Mandibulofacial Dysostosis" by people in this website by year, and whether "Mandibulofacial Dysostosis" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 0 | 2 | 2 |
| 2004 | 0 | 1 | 1 |
| 2005 | 1 | 1 | 2 |
| 2009 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Mandibulofacial Dysostosis" by people in Profiles.
-
Counterclockwise Craniofacial Distraction Osteogenesis. Clin Plast Surg. 2021 Jul; 48(3):445-454.
-
Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. Plast Reconstr Surg. 2018 08; 142(2):447-457.
-
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. Biochem Biophys Res Commun. 2018 04 30; 499(1):78-85.
-
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017 Dec 07; 101(6):995-1005.
-
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. Am J Med Genet A. 2015 Apr; 167A(4):914-8.
-
Branchial arch syndromes. Atlas Oral Maxillofac Surg Clin North Am. 2014 Sep; 22(2):167-73.
-
A probabilistic disease-gene finder for personal genomes. Genome Res. 2011 Sep; 21(9):1529-42.
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010 Apr 30; 328(5978):636-9.
-
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan; 42(1):30-5.
-
Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product. Gene. 2005 Oct 10; 359:73-80.