Results 81 to 90 of about 2,495 (204)

De Novo Interstitial Deletion of 3q22.3-q25.2 Encompassing FOXL2, ATR, ZIC1, and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Global Developmental Delay

, 2011
We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
Woong Yang Park, Yong Seung Hwang, Ki Joong Kim, Eul-Ju Seo, Byung Chan Lim, Jong Hee Chae   +5 more
core   +1 more source

Ectrodactyly with absent meibomian glands and blepharophimosis – A unique presentation

Indian Journal of Ophthalmology. Case Reports, 2021
Bipasha Mukherjee, Soham S Pal
doaj   +1 more source

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: A new syndrome complex?

Indian Journal of Ophthalmology, 2007
A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported.
Vedantham Vasumathy, Jethani Jitendra, Agarwal Anil, Vijayalakshmi Perumalsamy   +3 more
doaj  

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

BMC Medical Genetics, 2018
Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz   +4 more
doaj   +1 more source

Surgical strategy for congenital blepharophimosis syndrome

Chinese Medical Journal, 2007
So far, most of the surgical techniques for congenital blepharophimosis syndrome are two-stage procedures. In this study, we investigated a modified one-stage procedure to reduce the suffering of patients.From 2003 to 2005, we adopted an one-stage technique combining blepharoptosis correction with medial canthoplasty in 16 patients with congenital ...
Wei-qing, Huang, Qun, Qiao, Ru, Zhao, Xiao-jun, Wang, Xue-quan, Fang   +4 more
openaire   +2 more sources

Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome

, 2011
Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant complex eyelid malformation. The authors aim to offer an explanation for the lower eyelid malformation and propose a novel surgical approach to correct it ...
Ilse Claerhout, Elfride De Baere, De Baere, Elfride, Philippe Kesteleyn, Akash D. Shah, Shah, Akash D, DECOCK, CHRISTIAN, Kestelyn, Philippe, Bart P. Leroy, Leroy, Bart, Claerhout, Ilse, Christian E. Decock   +11 more
core   +1 more source

Comparison of Triangular Technique, Double Triangular Technique and Pentagonal Technique of Frontalis Sling Surgery in Ptosis Correction

Delhi Journal of Ophthalmology, 2012
Purpose: To compare Triangular technique, Double Triangular technique and Pentagonal technique of Frontalis Sling surgery in ptosis correction in congenital ptosis patients. Methods: Cases with bilateral congenital simple ptosis with poor levator action,
Kumar Vivek, Reetika, Vinay Kumar, Anasua Ganguly, Nilesh Mohan, Mandeep S Bajaj, Supriyo Ghose   +6 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings

, 2015
PURPOSE:To investigate the efficacy of a one-stage early correction of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), using bovine pericardium derived membrane (TUTOPATCH(®)) for the frontalis suspension.
Calandriello, Luigi, Anna Dickmann, Savino, Gustavo, Erika Mandarà, Sergio Petroni, Gustavo Savino, Mandara', Erika, Luigi Calandriello, Dickmann, Anna, Petroni, Sergio   +9 more
core   +1 more source

Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)

, 2008
We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital ...
Kalscheuer, Vera M., Peters, H., Tzschach, Andreas, Tzschach, A., Kelbova, Christina, Weidensee, Sabine, Ullmann, R., Menzel, Corinna, Erdogan, Fikret, Kalscheuer, V., Kelbova, C., Jurkatis, J., Ropers, H., Weidensee, S., Ropers, Hans-Hilger, Demuth, S., Erdogan, F., Jurkatis, Jan, Menzel, C., Demuth, Stephanie, Peters, Hartmut, Ullmann, Reinhard   +21 more
core   +1 more source