Results 11 to 20 of about 2,495 (204)

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery

Journal of Anaesthesiology Clinical Pharmacology, 2011
Blepharophimosis syndrome is an autosomal dominant disorder characterized by eyelid malformation, involvement of reproductive system and abnormal facial morphology leading to difficult airway. We report a rare association of blepharophimosis syndrome and
Dalim Kumar Baidya, Puneet Khanna, Anil Kumar, Dilip Shende   +3 more
doaj   +2 more sources

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

Indian Journal of Ophthalmology, 2014
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.
Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, Rima Dada   +5 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

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

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Hormone research in paediatrics, 2020
FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be involved in pituitary development in mice.
Castets, Sarah, Roucher-Boulez, Florence, Saveanu, Alexandru, Mallet, Delphine, Chabre, Olivier, Amati-Bonneau, Patrizia, Bonneau, Dominique, Girardin, Celine, Morel, Yves, Villanueva, Carine, Brue, Thierry, Reynaud, Rachel, Nicolino, Marc   +12 more
openaire   +6 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

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome

BMC Ophthalmology, 2022
Purpose To evaluate the surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome.
Ahmed Ali Amer, Marwa Mahmoud Abdellah, Nader Hussein Fouad Hassan, Amr Mounir   +3 more
doaj   +1 more source