Results 11 to 20 of about 3,111 (197)

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, Volume 196, Issue 4, December 2024.
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.
Alders, Mariëlle, Bourgois, Alexia, Brusco, Alfredo, Carli, Diana, Ciaccio, Claudia, D'Arrigo, Stefano, Faivre, Laurence, Hennekam, Raoul C. M., Henneman, Peter, Kerkhof, Jennifer, Kini, Usha, Levy, Michael A., McConkey, Haley, Perrin, Laurence, Reilly, Jack, Relator, Raissa, Sarli, Camilla, Skinner, Cindy, Tedder, Matthew L., Trajkova, Slavica, van der Laan, Liselot, Vincent‐Devulder, Aline, Vitobello, Antonio, Weber, Sacha, Yamamoto, Toshiyuki   +24 more
core   +6 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 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

BLEPHAROPHIMOSIS – PTOSIS EPICANTHUS INVERSUS SYNDROME (BPES)

Delhi Journal of Ophthalmology, 2010
Saurabh Kamal, Goel Ruchi, Sushil Kumar, Tiwari Bhawna, Dulgach Pratima   +4 more
doaj   +2 more sources

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain [PDF]

, 2013
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism.
BEYSEN, DIANE, Carvalho, Claudio MB, D'haene, Barbara, De Baere, Elfride, Lapunzina, Pablo, Lupski, James R, Menten, Björn, Nevado, Julian, Novikova, Yana, Sante, Tom, Verdin, Hannah   +10 more
core   +10 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

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

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

Blepharophimosis syndrome: association with colobomatous microphthalmos [PDF]

Australian and New Zealand Journal of Ophthalmology, 1995
Abstract Objective: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome. Result: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy.
Lee, LR, Sullivan, TJ
openaire   +3 more sources