Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
نویسندگان
چکیده
منابع مشابه
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear ano...
متن کاملDuane 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...
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Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5-10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of...
متن کاملProperties 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 کاملSurgical 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...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2012
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.243