Results 91 to 100 of about 2,641 (162)

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

, 2012
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids.
Abramovicz, M., Morice-Picard, Fanny, Alao, Maroufou M.J., Rooryck, Caroline, Hans, Christine, Arveiler, Benoit, Lalya, Francis, Lalèyè, Anatole, Lacombe, Didier   +8 more
core   +1 more source

A multi-category eye image dataset for AI-based segmentation and analysis of eyelid disorders. [PDF]

Sci Data
Shao J, Cao J, Wang C, Xu P, Zhang X, Sun Y, Chen P, Dai N, Lou L, Ye J.   +9 more
europepmc   +1 more source

Single-stage surgery for Blepharophimosis syndrome

Indian Journal of Ophthalmology, 2013
Kasturi Bhattacharjee, Harsha Bhattacharjee, Ganesh Kuri, Zeenat Tajmin Shah, Nilutparna Deori   +4 more
doaj   +1 more source

Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome. [PDF]

Children (Basel)
Elabjer BK, Miletić D, Bjeloš M, Bušić M, Bulat I, Elabjer A.   +5 more
europepmc   +1 more source

Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature. [PDF]

Int J Mol Sci
Shalata Z, Mintz H, Haddad S, Osman K, Mahroum M, Hadid Y, Shalata A.   +6 more
europepmc   +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   +1 more source

A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management. [PDF]

BMC Ophthalmol
Al Khathami A, Al Ghamdi AH.
europepmc   +1 more source

A Case of Freeman-Sheldon Syndrome

, 2007
Purpose: To report a patient with Freeman-Sheldon syndrome with blepharophimosis. Methods: A 4-year-old girl with congenital facial abnormalities consistent with Freeman-Sheldon syndrome presented with complaints of blepharophimosis.
박형규, 이상열, 윤진숙
core  

<i>De Novo ZNF292</i> Variants Cause Neurodevelopmental Disorder with Short Stature: A Clinical Case Series of Eight Individuals. [PDF]

Genes (Basel)
Shen Y, Pan R, Liu C, Zheng J, Yang X.
europepmc   +1 more source

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source