Results 1 to 10 of about 2,031 (168)

Single stage surgery for Blepharophimosis syndrome [PDF]

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   +6 more sources

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome [PDF]

BMC Ophthalmology, 2022
Purpose To evaluate the surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome.
Ahmed Ali Amer, Marwa Mahmoud Abdellah, Nader Hussein Fouad Hassan, Amr Mounir   +3 more
doaj   +2 more sources

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome [PDF]

Science Progress, 2020
The purpose of this study was to evaluate the functional and cosmetic outcomes of a new modified Fox pentagon technique performed using polytetrafluoroethylene in frontalis suspension surgery for blepharophimosis syndrome.
Yuan Wang, Qian Wu, Li Li, Wen Liu, Cheng Li, Yunwei Fan, WenHong Cao, Ningdong Li   +7 more
doaj   +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.
Timothy Sullivan, L R Lee
exaly   +6 more sources

Syndrome de blépharophimosis: une forme particulière du ptosis congénital [PDF]

The Pan African Medical Journal, 2015
Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales.
Hanan Handor, Zouheir Hafidi, Mina Laghmari, Ihsane Sabrane, Olive Rosine Mastanga, Rajae Daoudi   +5 more
doaj   +2 more sources

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery [PDF]

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   +2 more sources

Blepharophimosis Syndrome

Journal of Bharatpur Hospital
Blepharophimosis syndrome (BPES) is a rare congenital condition primarily affecting the eyelids, leading to distinctive facial features. It is characterized by bilateral ptosis (drooping of the upper eyelids), shortened horizontal palpebral fissures (narrowed eye openings), epicanthus inversus (an upward fold of skin near the inner corner of the eye ...
Neuhouser AJ, Zeppieri M, Harrison AR.
europepmc   +2 more sources

Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES. [PDF]

Hum Mutat
Heterozygous FOXL2 (non)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid malformation and incompletely penetrant primary ovarian insufficiency (POI).
Matton C, Van De Velde J, De Bruyne M, Van De Sompele S, Hooghe S, Syryn H, Bauwens M, D Haene E, Dheedene A, Cools M, Komatsuzaki S, Preizner-Rzucidło E, Ross A, Armstrong C, Watkins W, Shelling A, Vincent AL, Cassiman C, Vermeer S, Bunyan DJ, Verdin H, De Baere E.   +21 more
europepmc   +2 more sources

Goldenhar syndrome with blepharophimosis and limb deformities: a case report [PDF]

BMC Ophthalmology, 2018
Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding, Xi Wang, Yuan Cao, Jiaying Zhang, Ming Lin, Xianqun Fan, Jin Li   +6 more
doaj   +3 more sources

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes-Related Neurological Disorders. [PDF]

CNS Neurosci Ther
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Chen S, Yin F, He F, Zhang C, Deng X, Yang L, Yang L, Chen C, Liu F, Peng J.   +9 more
europepmc   +2 more sources