Results 81 to 90 of about 3,419 (204)

Genetic Consultations in Neuroophthalmology [PDF]

, 2017
The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their ...
Klein, D.
core  

Management of congenital blepharoptosis in pediatric patients

Journal of Pediatric Surgery Open
Introduction: Palpebral ptosis corresponds to the lowered positioning of the upper eyelid margin (MRD1) in primary gaze. The objective of this work is to present the response to surgical treatment of palpebral ptosis operated in the last 3 years. Methods:
Angélica Paulos, Carolina Lagos, Valentina Broussain, Katherine Ellsworth, María José Hurtado, Andrea Hasbún   +5 more
doaj   +1 more source

DOES OVARIAN AUTOIMMUNITY PLAY A ROLE IN THE PATHPHYSIOLOGY OF PREMATURE OVARIAN INSUFFICIENCY [PDF]

, 2014
Premature ovarian failure (POF) is a term usually used to describe women younger than 40 years of age who present with amenorrhea. Diagnosis of POF is on the basis of follicle stimulating hormone level in the menopausal range associated with amenorrhea ...
Bakun, Oxana, Sekeiros Peres, Krize, Voitko, Maryna   +2 more
core  

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

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome [PDF]

, 2021
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically.
Bladen, JC, Moosajee, M, Méjécase, C, Nigam, C   +3 more
core  

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  

The transcription factor FOXL2 in ovarian function and dysfunction. [PDF]

, 2010
The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF).
Baere, Elfride De, Fellous, Marc, Veitia, Reiner A   +2 more
core   +2 more sources

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

Design and manufacturing of a patient-specific nasal implant for congenital arhinia: Case report

JPRAS Open, 2019
Arhinia (congenital absence of the nose) is a congenital rare disease, which has been reported in less than 60 cases in the literature. It consists of the absence of external nose, nasal cavities and olfactory apparatus and is generally associated with ...
Alessandro Borghi, Federica Ruggiero, Maik Tenhagen, Silvia Schievano, Allan Ponniah, David Dunaway, Justine O'Hara, Juling Ong, Jonathan A. Britto   +8 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