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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Acta Ophthalmol Scand. 1996 Feb; 74(1):45-7.AO

Abstract

The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22.

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Authors+Show Affiliations

Strømme P
Department of Pediatrics, Rikshospitalet, University of Oslo, Norway.
Sandboe F
No affiliation info available

MeSH

BlepharophimosisBlepharoptosisChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 3EyelidsFemaleGenetic LinkageHumansInfertility, FemaleMalePedigreeSyndrome

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

8689480

Citation

Strømme, P, and F Sandboe. "Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)." Acta Ophthalmologica Scandinavica, vol. 74, no. 1, 1996, pp. 45-7.
Strømme P, Sandboe F. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Acta Ophthalmol Scand. 1996;74(1):45-7.
Strømme, P., & Sandboe, F. (1996). Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Acta Ophthalmologica Scandinavica, 74(1), 45-7.
Strømme P, Sandboe F. Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES). Acta Ophthalmol Scand. 1996;74(1):45-7. PubMed PMID: 8689480.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). AU - Strømme,P, AU - Sandboe,F, PY - 1996/2/1/pubmed PY - 1996/2/1/medline PY - 1996/2/1/entrez SP - 45 EP - 7 JF - Acta ophthalmologica Scandinavica JO - Acta Ophthalmol Scand VL - 74 IS - 1 N2 - The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22. SN - 1395-3907 UR - https://wwww.unboundmedicine.com/medline/citation/8689480/Blepharophimosis_ptosis_epicanthus_inversus_syndrome__BPES__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=1395-3907&date=1996&volume=74&issue=1&spage=45 DB - PRIME DP - Unbound Medicine ER -