Results 151 to 160 of about 1,143,678 (194)

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

Acta Ophthalmologica, 1996
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 ...
Petter Strømme, P Strømme
exaly   +3 more sources

A case of blepharophimosis: Freeman Sheldon syndrome

Ophthalmic Genetics, 2021
Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.The authors describe the ...
Scott Bowman, Gwen Noble, Bahram Rahmani, Marilyn Mets, Hantamalala Ralay Ranaivo, Valerie Castelluccio   +5 more
openaire   +2 more sources

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
: Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability.
Stefano D'Arrigo, Diana Carli, Jack Reilly   +2 more
exaly   +4 more sources

“Blepharophimosis‐plus” syndromes: Frequency of systemic genetic disorders that also include blepharophimosis

Clinical & Experimental Ophthalmology, 2021
AbstractBackgroundTo determine the frequency of isolated blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis.MethodsRetrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's ...
Daphna Landau Prat, Brian J. Nguyen, Alanna Strong, William R. Katowitz, James A. Katowitz   +4 more
openaire   +2 more sources

A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings

Orbit, 2015
PURPOSE:To investigate the efficacy of a one-stage early correction of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), using bovine pericardium derived membrane (TUTOPATCH(®)) for the frontalis suspension.
Gustavo Savino, Sergio Petroni, Erika Mandara   +2 more
exaly   +2 more sources

Blepharophimosis syndrome is linked to chromosome 3q

Human Molecular Genetics, 1995
Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal
K W, Small, M, Stalvey, L, Fisher, L, Mullen, C, Dickel, K, Beadles, R, Reimer, A, Lessner, K, Lewis, M A, Pericak-Vance   +9 more
openaire   +2 more sources

Blepharophimosis Syndrome With Absent Tear Production

Ophthalmic Plastic & Reconstructive Surgery, 2015
The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite
Jacqueline K, Ng, Ann U, Stout, Aazy A, Aaby, John D, Ng   +3 more
openaire   +2 more sources

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23) [PDF]

Ophthalmic Genetics, 2008
We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital ...
Vera M. Kalscheuer, Andreas Tzschach, Reinhard Ullmann   +2 more
exaly   +2 more sources

Blepharophimosis syndrome: A rare disorder

Al-Basar International Journal of Ophthalmology, 2017
This report is a case of blepharophimosis syndrome in a 21-year-old male patient who presented to the outpatient department for handicapped certificate on account of poor vision. There was no history of similar occurrence in the family of the patient. The patient's vision was 6/18 in both eyes.
ChandanGovind Tiple, Nitin Tiple, Sugat Kawale, Pradhnya Rangari   +3 more
openaire   +1 more source

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES)

International Journal of Dermatology, 2007
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES.We report a female and her father with BPES type I, who ...
Alvaro, Leon-Mateos, Manuel, Ginarte, Clara, Ruiz-Ponte, Angel, Carracedo, Jaime, Toribio   +4 more
openaire   +2 more sources