Results 11 to 20 of about 3,419 (204)

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   +5 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

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review. [PDF]

Clin Genet
This study analyses 29 new Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) patients with BRPF1 variants and reveals a broad phenotypic spectrum, including novel features such as palpebral oedema. It highlights the variability in clinical expression, underlines the importance of ophthalmological assessment and detailed ...
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T.   +21 more
europepmc   +2 more sources

Surgical management of blepharophimosis syndrome

Indian Journal of Ophthalmology, 1983
Betharia S, Dayal Y, Kalra B
doaj   +2 more sources

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +1 more source

Visuo-motor performance in children visually impaired due to fetal alcohol syndrome (FAS) [PDF]

, 2013
Purpose: To investigate the ophthalmological characteristics and to evaluate the magnocellular function in Russian orphanage children with fetal alcohol syndrome (FAS).
Gummel, Kristina
core   +1 more source

Congenital Ectropion in Three Babies in the University of Benin Teaching Hospital, Nigeria

Nigerian Journal of Medicine, 2022
Congenital ectropion is a rare condition affecting newborns, in which the upper eyelid is turned outwards. Its etiology and pathogenesis, while not yet clear, are associated with congenital lid disorders such as blepharophimosis syndrome, congenital ...
Rachel Onyeka Enebe, Oseluese Anastasia Dawodu   +1 more
doaj   +1 more source

A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid [PDF]

, 2016
published_or_final_versio
Cheng, MH, Choy, KW, Pang, CP, Sham, MH, Song, Y, Tam, CN, Tsang, SL, Tsang, WH   +7 more
core   +1 more source

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   +1 more source

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   +1 more source