Results 71 to 80 of about 1,633 (195)

Bilateral inverse globe retraction (Duane′s) syndrome

Indian Journal of Ophthalmology, 2007
A case of true inverse Duane′s retraction syndrome, bilateral inverse globe retraction syndrome apparently due to abnormal innervation, is the subject of this clinical report.
Khan Arif
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Limbal Dermoid, Lipodermoids and Type 1 Duane’s Retraction Syndrome in a Case of Goldenhar Syndrome

Delhi Journal of Ophthalmology
Goldenhar syndrome (GHS), also described as oculo-auriculo-vertebral dysplasia or hemifacial microsomia, is a rare condition occurring due to a defect in the development of structures derived from the first and second branchial arches.
Vaishali Tomar, Rinky Agarwal, Purva Verma, Subhash Dadeya   +3 more
doaj   +1 more source

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. [PDF]

PURPOSE: This study aimed to identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
Andrews, Caroline, Barry, Brenda, Bekele, Sarah, Berube, Lindsay, Bradford, Victoria, Brand, Harrison, Chan, Wai-Man, Di Gioia, Silvio, England, Eleina, Engle, Elizabeth, Foster, Emma, Fu, Jack, Glaze, Carmen, Groopman, Emily, Hunter, David, Jurgens, Julie, Lee, Arthur, Lek, Monkol, Lemire, Gabrielle, MacArthur, Daniel, MacKinnon, Sarah, Matos Ruiz, Paola, Mensching, Fiona, ODonnell-Luria, Anne, Pais, Lynn, Pratt, Brandon, Rivera-Quiles, Cristina, Robson, Caroline, Russell, Kathryn, Sanchis-Juan, Alba, Shaaban, Sherin, Singer-Berk, Moriel, Talkowski, Michael, Toffoloni, Melissa, Weisburd, Ben, Whitman, Mary, Wilson, Michael, Wirth, Megan, Wong, Isaac, Zhao, Xuefang   +39 more
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Duane retraction syndrome in a Nigerian child [PDF]

, 2016
We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had
Baiyeroju, Aderonke Mojisola, Olawoye, Olusola Oluyinka, Olusanya, Bolutife Ayokunnu   +2 more
core   +1 more source

cranial nerve abnormalities in oculo auriculo vertebral spectrum [PDF]

, 2015
BACKGROUND AND PURPOSE: Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been ...
A. Martini, D. Brotto, E. Cantone, G. Schifano, I. Toldo, R. Bovo, R. Manara, R. Mardari, S. Ghiselli   +8 more
core   +3 more sources

Magnetic resonance imaging (MRI) in Duane retraction syndrome

Journal of Clinical Ophthalmology and Research, 2016
Purpose: To study the magnetic resonance imaging (MRI) findings in Duane retraction syndrome (DRS). Materials and Methods: In this case–control study, 16 consecutive cases of Duane syndrome underwent MRI of the brain and orbit, after informed consent ...
Siddharth Agrawal, Vinita Singh, Anit Parihar, Vishal Katiyar, Rajat M Srivastava, Vikas Chahal   +5 more
doaj   +1 more source

Case report : Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome [PDF]

Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities.
Baena Díez, Neus, Beltrán-Salazar, Viviana P., Brunet Vega, Anna, Capdevila, Núria, Gabau, Elisabeth, Jeyaprakash, A Arockia, Manso-Bazús, Carmen, Martinez-Glez, Víctor, Ruiz, Anna, Spataro, Nino, Trujillo-Quintero, Juan Pablo, Universitat Autònoma de Barcelona   +11 more
core   +2 more sources

Carboxypeptidase A6 in Zebrafish Development and Implications for VIth Cranial Nerve Pathfinding [PDF]

, 2010
Carboxypeptidase A6 (CPA6) is an extracellular protease that cleaves carboxy-terminal hydrophobic amino acids and has been implicated in the defective innervation of the lateral rectus muscle by the VIth cranial nerve in Duane syndrome.
Leung-hang Ma, Lloyd D. Fricker, Mai Har Sham, Peter J. Lyons, Robert Baker   +4 more
core   +3 more sources

Identification of Key Proteins Involved in Axon Guidance Related Disorders: A Systems Biology Approach

, 2018
Axon guidance is a crucial process for growth of the central and peripheral nervous systems. In this study, 3 axon guidance related disorders, namely- Duane Retraction Syndrome (DRS) , Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) and ...
Ahammad, Ishtiaque
core   +2 more sources

Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-A case report

Indian Journal of Ophthalmology, 1992
This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting ...
Verma Manju, Faridi MMA
doaj