Results 1 to 10 of about 3,419 (204)

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient [PDF]

Egyptian Journal of Medical Human Genetics, 2015
We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical
Rabah M. Shawky, Radwa Gamal, Neveen S. Seifeldin   +2 more
doaj   +3 more sources

Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A [PDF]

Dermatology and Therapy
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities.
Panittra Suphatsathienkul, Kullasate Sakpichaisakul, Thanin Wechapinan, Objoon Trachoo, Sorawit Virawan, Rungsima Wanitphakdeedecha   +5 more
doaj   +2 more sources

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
doaj   +1 more source

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

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
doaj   +1 more source

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

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

Suspensory materials for surgery of blepharoptosis: a systematic review of observational studies [PDF]

, 2016
Background Frontalis suspension surgery is considered the procedure of choice in cases of blepharoptosis. Among all the materials used in this type of surgery, ophthalmic and plastic surgeons prefer to use autologous Fascia Lata.
Amorelli, Giulia Maria, BOTTONE, Andrea, LA TORRE, Giuseppe, MIPATRINI, DANIELE, PACELLA, Elena, PACELLA, FERNANDA, SMALDONE, GIANPAOLO, TURCHETTI, PAOLO   +7 more
core   +6 more sources

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome [PDF]

, 2016
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study.
A v Cruz, A, Akaishi, P, Araujo Silva, W, Chodraui-Filho, S, Cintra, M, Duarte, AF, Molfetta, G, Toscano, A   +7 more
core   +1 more source