 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
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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 |
|---|
| 1997 | 0 | 1 | 1 | | 2009 | 0 | 1 | 1 | | 2015 | 1 | 0 | 1 | | 2020 | 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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Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. Am J Med Genet A. 2020 05; 182(5):1104-1116.
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Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschk? P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 02; 96(4):519-31.
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Washington KM, Zanoun RR, Cadogan KA, Afrooz PN, Losee JE. Composite tissue allotransplantation for the reconstruction of congenital craniofacial defects. Transplant Proc. 2009 Mar; 41(2):523-7.
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Roth DA, Gosain AK, McCarthy JG, Stracher MA, Lefton DR, Grayson BH. A CT scan technique for quantitative volumetric assessment of the mandible after distraction osteogenesis. Plast Reconstr Surg. 1997 Apr; 99(5):1237-47; discussion 1248-50.
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