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
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| MeSH Number(s) |
C05.116.099.370.231.576 C05.660.207.231.576 C16.131.621.207.231.576
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| 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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 0 | 1 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 1 | 2 |
| 2018 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mandibulofacial Dysostosis" by people in Profiles.
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Counterclockwise Craniofacial Distraction Osteogenesis. Clin Plast Surg. 2021 Jul; 48(3):445-454.
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Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis. Ann Plast Surg. 2018 09; 81(3):305-310.
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Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. Plast Reconstr Surg. 2018 08; 142(2):447-457.
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Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome. Plast Reconstr Surg. 2017 Dec; 140(6):1240-1249.
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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.
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Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome. J Craniofac Surg. 2016 Sep; 27(6):1408-11.
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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.
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A probabilistic disease-gene finder for personal genomes. Genome Res. 2011 Sep; 21(9):1529-42.
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Molding of the regenerate in mandibular distraction: clinical experience. Plast Reconstr Surg. 2003 Oct; 112(5):1239-46.
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[Hallermann-Streiff syndrome. A case report]. Ann Dermatol Venereol. 1990; 117(3):203-6.