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Acta Ophthalmologica Scandinavica Feb 1996The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and... (Review)
Review
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.
Topics: Blepharophimosis; Blepharoptosis; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 3; Eyelids; Female; Genetic Linkage; Humans; Infertility, Female; Male; Pedigree; Syndrome
PubMed: 8689480
DOI: 10.1111/j.1600-0420.1996.tb00680.x -
American Journal of Ophthalmology Mar 1963
Topics: Blepharophimosis; Eyelids; Humans
PubMed: 13959047
DOI: No ID Found -
Orbit (Amsterdam, Netherlands) Oct 2011
Review
Topics: Blepharophimosis; Child, Preschool; Chromosome Disorders; Chromosomes, Human, Pair 3; Eyelids; Female; Follow-Up Studies; Humans; Infant; Male; Ophthalmologic Surgical Procedures; Risk Assessment; Skin Abnormalities; Treatment Outcome
PubMed: 21957947
DOI: 10.3109/01676830.2010.547266 -
International Ophthalmology Clinics 2008
Review
Topics: Blepharophimosis; Blepharoptosis; Child, Preschool; Eyelids; Humans; Infant; Skin Abnormalities; Syndrome
PubMed: 18427257
DOI: 10.1097/IIO.0b013e3181694eee -
Klinische Monatsblatter Fur... Jan 2012The blepharophimosis ptosis epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully... (Review)
Review
The blepharophimosis ptosis epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully by Vignes in 1889. Its primary effects on the soft tissue of the midface are blepharophimosis, ptosis, epicanthus inversus and telecanthus. It starts with the epicanthic folds at about the age of 3-4 years, followed by the correction of the ptosis about 9-12 months later. Early surgery may be necessary for amblyopia. In 1995 the gene locus was identified as 3Q23. BPES is due to a mutation within a single gene, the FOXL2 gene. In female patients an early childhood ovarian insufficiency must be excluded.
Topics: Blepharophimosis; Blepharoptosis; Female; Humans; Skin Abnormalities; Syndrome
PubMed: 22241538
DOI: 10.1055/s-0031-1281864 -
Pediatrics International : Official... Jun 2011
Topics: Abnormalities, Multiple; Blepharophimosis; Blepharoptosis; Chromosome Aberrations; Chromosomes, Human, Pair 3; DNA; Diagnosis, Differential; Eyelids; Female; Genetic Linkage; Humans; Infant; Male; Mutation; Pedigree; Polymerase Chain Reaction; Syndrome
PubMed: 21696507
DOI: 10.1111/j.1442-200X.2010.03223.x -
Genes Mar 2021Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 () gene. It shows... (Review)
Review
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 () gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. The genotype-phenotype correlation is not fully understood, but it has been hypothesised that type I BPES involves more severe loss of function variants spanning the whole gene. Type II BPES has been linked to frameshift mutations that result in elongation of the protein rather than complete loss of function. A mutational hotspot has been identified within the poly-alanine domain, although the exact function of this region is still unknown. However, the BPES subtype cannot be determined genetically, necessitating informed genetic counselling and careful discussion of family planning advice in view of the associated POF particularly as the patient may still be a child. Following puberty, female patients should be referred for ovarian reserve and response assessment. Oculofacial features can be managed with surgical intervention and regular monitoring to prevent amblyopia.
Topics: Blepharophimosis; Female; Forkhead Box Protein L2; Frameshift Mutation; Humans; Loss of Function Mutation; Male; Phenotype; Primary Ovarian Insufficiency; Protein Domains; Skin Abnormalities; Urogenital Abnormalities
PubMed: 33806295
DOI: 10.3390/genes12030364 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Blepharophimosis; Blepharoptosis; Chromosomes, Human, Pair 3; Diagnosis, Differential; Eyelids; Genes, Dominant; Humans; Prognosis; Syndrome
PubMed: 11057226
DOI: No ID Found