Two Cases of Congenital Blepharophimosis [PDF]
Proceedings of the Royal Society of Medicine, 1925 openaire +2 more sources
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
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Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome. [PDF]
Children (Basel)Elabjer BK +5 more
europepmc +1 more source
Single-stage surgery for Blepharophimosis syndrome
Indian Journal of Ophthalmology, 2013 Kasturi Bhattacharjee +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 OphthalmolAl Khathami A, Al Ghamdi AH.
europepmc +1 more source
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family. [PDF]
BMC Ophthalmol, 2023 Lin ZB +8 more
europepmc +1 more source
BLEPHAROPHIMOSIS – PTOSIS EPICANTHUS INVERSUS SYNDROME (BPES)
Delhi Journal of Ophthalmology, 2010 Saurabh Kamal +4 more
doaj +1 more source
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]
Mol CytogenetAbdelfattah AS, Saleh MA.
europepmc +1 more source
Marcus-Gunn Jaw-Winking Phenomenon: A Case Report on Rare Oculofacial Synkinesis. [PDF]
Int Med Case Rep JAlharthe AFH +3 more
europepmc +1 more source
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review. [PDF]
Case Rep Genet, 2023 Bayanbold K +3 more
europepmc +1 more source