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Surgical Management of Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome (BPES): A Comprehensive Review [PDF]

Ophthalmology and Therapy
Introduction Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare congenital eyelid disorder that leads to drooping eyelids, narrowing of the palpebral fissures, and a characteristic facial appearance.
Julia Wojciechowska, Monika Wojarska, Arina Drobashko, Julia Kępska, Bogdan Jabłoński, Klaudia Kokot, Jerzy Jankau   +6 more
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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
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Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

Frontiers in Medicine, 2021
Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD).
Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek   +9 more
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Surgical treatment of moderate and severe ptosis: analysis of results [PDF]

Revista Brasileira de Cirurgia Plástica, 2018
Introduction: Eyelid ptosis is a common condition in clinical practice for which a complete evaluation is mandatory. Ptosis is defined when the eyelid margin is 2 mm below the corneoscleral junction and can be classified as mild, moderate, and severe ...
Rodolfo Chedid, Celso Eduardo Jandre Boechat, Fernando Serra Guimarães   +2 more
doaj   +1 more source

Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis [PDF]

International Journal of Ophthalmology, 2019
AIM: To conduct a systematic review and Meta-analysis of the published literature to evaluate the pooled prevalence rate of amblyopia in patients with congenital ptosis.
Jia-Ying Zhang, Xiao-Wei Zhu, Xia Ding, Ming Lin, Jin Li   +4 more
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Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome

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   +1 more source

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +1 more source

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

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   +1 more source

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

Indian Journal of Ophthalmology, 2014
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.
Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, Rima Dada   +5 more
doaj   +1 more source