Results 81 to 90 of about 2,641 (162)

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

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

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

Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases Síndrome de la blefarotimosis familiar: estudio de dos familias colombianas y dos casos esporádicos

Iatreia, 1989
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus.
José Luis Ramírez Castro
doaj  

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome

, 1989
From the Hospitals for Sick Children, Great Ormond Street, London WCJN 3JH. SUMMARY Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.
I K Temple, I K Temple, M Baraitser
core   +1 more source

Blepharophimosis-ptosis-epicanthus inversus syndrome (type 1)

TNOA Journal of Ophthalmic Science and Research, 2021
Manpreet Singh, Arshiya Saini, Manpreet Kaur, Bhavna Singla   +3 more
doaj   +1 more source

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities

, 2017
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe ...
Murat Erdogan, SAHİN, Yavuz, Erdogan, Murat, Ergul, Ayse B., Ayse B. Ergul, ÖZCAN, Alper, Balta, Burhan, Burhan Balta, Yavuz Sahin, Alper Ozcan   +9 more
core   +1 more source

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

, 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, Molfetta, G, Chodraui-Filho, S, Araujo Silva, W, Cintra, M, Toscano, A, Duarte, AF, Akaishi, P   +7 more
core   +1 more source

Isolated incomplete cryptophthalmos with bilateral non-syndromic microphthalmia – a rare clinical entity

Klinika Oczna
We report a case of a full-term newborn Caucasian girl presenting at 10 days of age with bilateral absence of upper eyelid creases, extremely short palpebral fissures, and mucosal tissue covering both globes. B-scan ultrasonography and magnetic resonance
Kalina Trifonova, Kiril Slaveykov
doaj   +1 more source