Skip to search formSkip to main contentSkip to account menu

Blepharophimosis

Known as: Decreased width of palpebral fissure, Blepharophimosis [Disease/Finding], Narrow opening between the eyelids 
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids… 
National Institutes of Health

Related topics

Related topics

47 relations
AMYOTROPHY, HEREDITARY NEURALGICARTERIAL TORTUOSITY SYNDROMEAcromegaloid facial appearance syndromeAcrootoocular Syndrome

Narrower (9)

Blepharophimosis syndrome Ohdo typeBpes With Duane Retraction SyndromeColoboma of Alar-nasal cartilages with telecanthusJorgenson Lenz syndrome

Broader (1)

Eyelid Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Highly Cited
2010
Highly Cited
2010
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Review
2006
Review
2006
Ovarian follicle development and transgenic mouse models.
Ovarian follicle development is a complex process that begins with the establishment of what is thought to be a finite pool of… 
Review
2006
Review
2006
Foxl2 function in ovarian development.
Highly Cited
2004
Highly Cited
2004
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in… 
Highly Cited
2003
Highly Cited
2003
Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development.
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a human disorder caused by mutations in the forkhead transcription… 
Highly Cited
2001
Highly Cited
2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus… 
Highly Cited
2001
Highly Cited
2001
A 11.7-kb deletion triggers intersexuality and polledness in goats
Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial… 
Highly Cited
1988
Highly Cited
1988
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
Un cas chez une fille est presentee. Zlotogora et coll. ont individualise 2 types. De nombreux enfants necessitent une… 
Highly Cited
1962
Highly Cited
1962
Congenital blepharophimosis associated with a unique generalized myopathy.
Congenital blepharophimosis (Phimosis Palpebrum, von Ammon, 1841)1is described as a general diminution of the palpebral aperture… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)