"Blepharophimosis" 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.
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
| Descriptor ID |
D016569
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| MeSH Number(s) |
C11.250.090 C11.338.190 C16.131.384.190
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Blepharophimosis".
Below are MeSH descriptors whose meaning is more specific than "Blepharophimosis".
This graph shows the total number of publications written about "Blepharophimosis" by people in this website by year, and whether "Blepharophimosis" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2015 | 1 | 1 | 2 |
| 2018 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Blepharophimosis" by people in Profiles.
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Hildebrandt CC, Patel N, Graham JM, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE, Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE. Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. Am J Med Genet A. 2021 07; 185(7):2136-2149.
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Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Nablus syndrome: Easy to diagnose yet difficult to solve. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):447-457.
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Lin AE. The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies. J Oral Maxillofac Surg. 2015 Dec; 73(12 Suppl):S13-6.
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Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. Am J Med Genet A. 2015 Jun; 167(6):1400-5.
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Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
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Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Br?ndum-Nielsen K. Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? Am J Med Genet A. 2006 Dec 15; 140(24):2709-13.