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      Duane retraction syndrome in a patient with abnormal head position Translated title: Anormal baş pozisyonu ile gelen hastada Duane retraksiyon sendromu

      case-report

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          Abstract

          Duane’s syndrome is a rare retraction anomaly characterized by an innervation defect in the lateral rectus muscle, limitation of abduction and adduction due to the result of abnormal innervation of the horizontal rectus muscles, changes in the eyelid fissures, and abnormal vertical eye movements. The affected eye is displaced up and/or down in adduction. This syndrome, also known as Stilling-Turk-Duane syndrome, accounts for approximately 1 to 5% of all strabismus cases. In this article, we present a one-and-a-half-year-old male patient who had abnormal head position, and was diagnosed as having Duane retraction syndrome. Through this study, we want to draw attention to Duane retraction syndrome, which is one of the rare causes of strabismus.

          Translated abstract

          Duane retraksiyon sendromu lateral rektus kasında anormal sinir iletisi sonucunda gelişen abdüksiyon ve addüksiyonda kısıtlılık, yatay göz hareketlerinde kısıtlılık, göz küresinde retraksiyon, göz kapağı fisssürlerinde değişiklik ve anormal dikey göz hareketleri ile belirgin ender bir kırma kusurudur. Etkilenen göz addüksiyonda yukarı ya/ya da aşağıya doğru yer değiştirir. Stilling-Türk-Duane sendromu olarak da bilinen bu sendrom tüm şaşılık olgularının yaklaşık yüzde 1 ila 5’ini oluşturmaktadır. Bu yazıda anormal baş poziyonu nedeniyle kliniğimize başvurusunda yapılan incelemeler sonucunda Duane retraksiyon sendromu tanısı alan 1,5 yaşında bir erkek olgu sunulmuştur. Bu yazı ile ender şaşılık nedenlerinden biri olan Duane retraksiyon sendromu tanısına dikkat çekmek amaçlanmıştır.

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          Most cited references9

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          Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.

          In view of all the reported evidence by electromyography in the 1970s, by histology in the 1980s, and by cerebral imagery since the 2000s, Duane retraction syndrome (DRS) has been described as the consequence of a congenital anomaly of the 6th cranial nerve nuclei with aberrant innervations by supply from the 3rd cranial nerve. Both genetic and environmental factors are likely to play a role when the cranial nerves and ocular muscles are developing between the 4th and the 8th week of gestation. New data from eye movement recordings contributed to better understanding the binocular control of saccades. Modeling of saccades in DRS seems promising for the quantification of the innervational deficit and the mechanical properties of the eye plant. The usual clinical classification of DRS needs to be updated in order to match more accurately the underlying dysinnervation of the extra ocular muscles and to illustrate the continuum that exists between the various forms. This review aims to summarize the major findings about DRS and to guide the clinician in the surgical management of this particular form of strabismus. Copyright © 2010 Elsevier Ltd. All rights reserved.
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            Localization of a gene for Duane retraction syndrome to chromosome 2q31.

            Duane retraction syndrome (DRS) is a congenital eye-movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, restricted adduction, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. DRS has a prevalence of approximately 0.1% in the general population and accounts for 5% of all strabismus cases. Undiagnosed DRS in children can lead to amblyopia, a permanent uncorrectable loss of vision. A large family with autosomal dominant DRS was examined and tested for genetic linkage. After exclusion of candidate regions previously associated with DRS, a genomewide search with highly polymorphic microsatellite markers was performed, and significant evidence for linkage was obtained at chromosome 2q31 (D2S2314 maximum LOD score 11.73 at maximum recombination fraction. 0). Haplotype analysis places the affected gene in a 17.8-cM region between the markers D2S2330 and D2S364. No recombinants were seen with markers between these two loci. The linked region contains the homeobox D gene cluster. Three of the genes within this cluster, known to participate in hindbrain development, were sequenced in affected and control individuals. Coding sequences for these genes were normal or had genetic alterations unlikely to be responsible for the DRS phenotype. Identifying the gene responsible for DRS may lead to an improved understanding of early cranial-nerve development.
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              Duane retraction syndrome: series of 441 cases.

              To determine the demographic and clinical profile of various subtypes of Duane retraction syndrome (DRS).
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                Author and article information

                Journal
                Turk Pediatri Ars
                Turk Pediatri Ars
                Turkish Archives of Pediatrics/Türk Pediatri Arşivi
                Kare Publishing (Turkey )
                1306-0015
                1308-6278
                2019
                25 September 2019
                : 54
                : 3
                : 196-199
                Affiliations
                [1 ]Division General Pediatrics, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey
                [2 ]Division Pediatric Ophthalmology, Department of Ophthalmology, Ege University Faculty of Medicine, İzmir, Turkey
                Author notes
                Corresponding Author / Sorumlu Yazar: Şule Gökçe E-mail / E-posta: sule.gokce@ 123456yahoo.com
                Article
                TPA-54-196
                10.14744/TurkPediatriArs.2018.6116
                6776448
                add32110-37f6-43df-9684-0a10975ae875
                Copyright: © 2019 Turkish Archives of Pediatrics

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License

                History
                : 18 August 2017
                : 14 March 2018
                Categories
                Case Report

                abnormal head position,duane retraction syndrome,strabismus

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