Complex cytogenetic rearrangements at the DURS 1 locus in syndromic Duane retraction syndrome

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome Hagit N. Baris*, Wai-Man Chan*, Caroline Andrews, Doron M. Behar, Diana J. Donovan, Cynthia C. Morton, Judith Ranells, Tuya Pal, Azra H. Ligon & Elizabeth C. Engle Program in Genomics, Boston Children’s Hospital, Boston, Massachusetts, 02115 The Recanati Genetic Institute, Beilinson Hospital, Rabin Medi...

متن کامل

Duane retraction syndrome in a Nigerian child

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 right exotropia in the primary position of gaze. There was limitation of abduction and widening of the palpebral fissure of the right eye on r...

متن کامل

Properties of saccades in Duane retraction syndrome.

PURPOSE To improve understanding of the binocular control of saccades by making high-resolution eye movement recordings in patients with unilateral Duane retraction syndrome (DRS) type I (marked by congenital absence of the sixth cranial nerve). METHODS Binocular eye movements were recorded in four patients in binocular viewing conditions during a saccade task. RESULTS Affected-side gaze sh...

متن کامل

Surgical Planning for Duane Retraction Syndrome

Duane retraction syndrome comprises a group of motility disturbances in which the common feature is co-contraction of medial and lateral rectus muscles on attempted adduction of the involved eye(s). Abnormal clinical features associated with DRS include horizontal deviation in primary position, abnormal head position, retraction of the globe on attempted adduction leading to pseudoptosis, up sh...

متن کامل

Surgical treatment of Duane retraction syndrome

Purpose Surgical treatment in Duane retraction syndrome (DRS) can be very challenging even for the strabismus specialists because of a wide spectrum of diversity in clinical manifestations. The purpose of this article is to review these different surgical treatments. Methods A comprehensive search was performed using PubMed database with the different keywords of "Duane retraction syndrome" a...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Clinical Case Reports

سال: 2013

ISSN: 2050-0904,2050-0904

DOI: 10.1002/ccr3.11