Results 11 to 20 of about 2,641 (162)

Single stage surgery for Blepharophimosis syndrome

Indian Journal of Ophthalmology, 2012
Purpose: The purpose of this study was to report the functional and cosmetic outcome of single stage surgical procedure for correction of the classic components of Blepharophimosis syndrome.
Kasturi Bhattacharjee, Harsha Bhattacharjee, Ganesh Kuri, Zeenat Tajmin Shah, Nilutparna Deori   +4 more
doaj   +2 more sources

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

Indian Journal of Ophthalmology, 2016
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus.
Vasudha Kemmanu, Pragnya Rathod, Hemant Anaspure, Naresh K Yadav   +3 more
doaj   +2 more sources

Waardenburg or Blepharophimosis ptosis epicanthus inversus syndrome? – An enigmatic riddle

Kerala Journal of Ophthalmology
Waardenburg syndrome (WS) is a genetic disorder that may be discernible right at birth. The syndrome is well known to have heterogeneous expression; the range, and severity of which may vary greatly from case to case, even among the individuals of the ...
Deepsekhar Das, Mandeep S. Bajaj, Parag Tyagi, Saloni Gupta, Sahil Agrawal   +4 more
doaj   +2 more sources

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families

Genetics and Molecular Biology, 1998
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs.
N.M. Kokitsu-Nakata, A. Richieri-Costa
doaj   +2 more sources

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient [PDF]

Egyptian Journal of Medical Human Genetics, 2015
We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical
Rabah M. Shawky, Radwa Gamal, Neveen S. Seifeldin   +2 more
doaj   +4 more sources

Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES. [PDF]

Hum Mutat
Heterozygous FOXL2 (non)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid malformation and incompletely penetrant primary ovarian insufficiency (POI).
Matton C, Van De Velde J, De Bruyne M, Van De Sompele S, Hooghe S, Syryn H, Bauwens M, D Haene E, Dheedene A, Cools M, Komatsuzaki S, Preizner-Rzucidło E, Ross A, Armstrong C, Watkins W, Shelling A, Vincent AL, Cassiman C, Vermeer S, Bunyan DJ, Verdin H, De Baere E.   +21 more
europepmc   +2 more sources

Minimizing Postoperative Scars in Epicanthoplasty: A Concise Review. [PDF]

J Cosmet Dermatol
ABSTRACT Background The epicanthal fold is a fibromuscular skin fold covering the medial aspect of the eye. Upper double eyelid blepharoplasty and epicanthoplasty have become the most frequently performed cosmetic surgeries in Asia. However, many surgeons have expressed concern for hypertrophic scarring following epicanthoplasty.
Fineide FA, Allen RC, Bohman E, Tønseth KA, Utheim TP, Khan AZ.   +5 more
europepmc   +2 more sources

Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report. [PDF]

Case Rep Anesthesiol
Schwartz–Jampel syndrome (SJS) is associated with neuromuscular and structural abnormalities that can complicate perioperative and anesthetic management. The syndrome has been noted to create increased difficulty in anesthetic airway management with age.
Shreiner H, Booth A, McIntosh A, McLeod C.   +3 more
europepmc   +2 more sources

A rare association of blepharophimosis–ptosis–epicanthus inversus syndrome with unilateral posterior persistent fetal vasculature

Indian Journal of Ophthalmology. Case Reports, 2023
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare genetic syndrome characterized by dysmorphism of ocular adnexa. We report a rare presentation of BPES and posterior persistent fetal vasculature (PFV) in a 10-year-old male child.
Syed W A Rizvi, Iraj A Khan, Syed M D Qaseem, Syed A R Rizvi, Mohammed A Siddiqui, Pragya Ahuja   +5 more
doaj   +1 more source

Bowman's membrane corneal dystrophy in a case of McDonough syndrome: A new association

Indian Journal of Ophthalmology. Case Reports, 2022
Ocular features described as part of the McDonough syndrome include eyelid anomalies like blepharophimosis and ptosis in conjunction with motility defects of the eye with the presence of strabismus.
Parul Jain, Ritu Arora, Abhilasha Sanoria, Akshay K Singh   +3 more
doaj   +1 more source