Results 21 to 30 of about 1,143,678 (194)

Can single stage surgery in Blepharophimosis syndrome be practiced universally? [PDF]

Indian Journal of Ophthalmology, 2013
Ruchi Goel, Amit Goel
doaj   +2 more sources

Surgical management of blepharophimosis syndrome

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

Single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients

Taiwan Journal of Ophthalmology, 2022
The purpose of this study was to describe the single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients. The single-triangle technique was used in 40 eyes of 20 patients of blepharophimosis syndrome.
Anuj Mehta, Mayuresh Naik, Siddharth Agarwal   +2 more
doaj   +1 more source

Visual development in the blepharophimosis syndrome. [PDF]

British Journal of Ophthalmology, 1991
One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is ...
M, Beaconsfield, J W, Walker, J R, Collin   +2 more
openaire   +2 more sources

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

One-stage correction for blepharophimosis syndrome [PDF]

Eye, 2006
To classify the severity of blepharophimosis, describe associated features and their effects on the incidence of amblyopia and to recommend guidelines for surgical treatment and management of surgical complications.The case records of 23 patients with blepharophimosis syndrome were examined retrospectively.
S-Y, Wu, L, Ma, Y-J, Tsai, J Z-C, Kuo
openaire   +2 more sources

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

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

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

, 2020
Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due
Low, Karen J., Wilson, Kate, Firth, Helen, Aref-Eshghi, Erfan, Jouan, Thibaud, Brunetti-Pierri, Nicola, Chapman, Kimberly A., Hennekam, Raoul C M, Chapman, Kimberly, Carrella, Diego, Sousa, Sérgio, Bruel, Ange Line, Metcalfe, Kay, Buchanan, Catherine A, Low, Karen, Chapman, Kimberly A, Piard, Juliette, C, George-Abraham, Jaya K., Dias, Cristina, Kerkhof, Jennifer, Moutton, Sébastien, Nigro, Vincenzo, Williams, Denise, Pinelli, Michele, Dubourg, Christèle, Gerard, Bénédicte, Vitobello, Antonio, Eichler, Evan, Moh, Anna, Dias, Cristina; id_orcid, ?, ?, Kennani, Sara El, Duffourd, Yannis, Thevenon, Julien, Vitiello, Giuseppina, Low, Karen J, Buchanan, Catherine, Piard, Juliette, Torella, Annalaura, Devillard, Françoise, Buchanan, Catherine A., Hančárová, Miroslava, Yamamoto, Toshiyuki, Piton, Amélie, George-Abraham, Jaya K, Thauvin-Robinet, Christel, Govin, Jérôme, Sá, Joaquim, Hennekam, Raoul, C M, Cappuccio, Gerarda, Bruel, Ange-Line, Eichler, Evan E, Kini, Usha, Sayou, Camille, Sadikovic, Bekim, Okamoto, Nobuhiko, Sousa, Sérgio B, Casari, Giorgio, Havlovicová, Markéta, Eichler, Evan E., Tanno, Pauline Le, Odent, Sylvie, Perrin, Laurence, Musacchia, Francesco, Van-Gils, Julien, Mutarelli, Margherita, Tisserant, Emilie, George-Abraham, Jaya, Le Guyader, Gwenaël   +68 more
core   +4 more sources

Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis [PDF]

BMJ Case Reports, 2020
Blepharophimosis refers to the reduced horizontal length of the palpebral aperture. It is found to be associated with multiple syndromes.[1][1] Frydman-Cohen-Karmon syndrome (FCKS) is an autosomal recessively inherited syndrome characterised by the presence of features, including blepharophimosis,
Rachna Meel, Nikitha Ayyadurai, Sahil Agrawal, Deepsekhar Das   +3 more
openaire   +2 more sources