نتایج جستجو برای: duane syndrome
تعداد نتایج: 622107 فیلتر نتایج به سال:
Is orienting of spatial attention dependent on normal functioning of the ocular motor system? We investigated the role of motor pathways in covert orienting (attentional orienting without performing eye movements) by studying three patients suffering from Duane Retraction Syndrome-a congenital impairment in executing horizontal eye movements restricted to specific gaze directions. Patients show...
PURPOSE To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus. METHODS Prospective clinical examination and linkage analysis. RESULTS three of the ten siblings and their cousin each had a different phenotypic form of childhood strabismus: infantile esotropia with convergence excess, esotropia associated with anisometropic...
OBJECTIVES To present the outcomes of modified lateral rectus Y-splitting combined with either unilateral or bilateral horizontal rectus recession in Duane Retraction Syndrome (DRS) with significant upshoot or downshoot. MATERIALS AND METHODS A total of 12 patients including 10 patients with Type I DRS and 2 with Type III DRS underwent modified Y-splitting surgery. Amount of additional re...
Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold mo...
Disease characteristics. Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (82%), dysplastic ears (88%) (overfolded superior helices and preauricular tags) frequently associated with sensorineural and/or conductive hearing impairment (65%), and thumb malformations (89%) (triphalangeal thumbs, duplication of the thumb (preaxial polydactyly), and rarely hypoplasia of ...
During a screen for ethylnitrosourea-induced mutations in mice affecting blood natural killer (NK) cells, we identified a strain, designated Duane, in which NK cells were reduced in blood and spleen but increased in lymph nodes (LNs) and bone marrow (BM). The accumulation of NK cells in LNs reflected a decreased ability to exit into lymph. This strain carries a point mutation within Tbx21 (T-be...
Sir, Pretegiani et al. (2011) describe a 28-year-old female with early-onset optic atrophy who subsequently developed slowly progressive spastic paraplegia. Electrophysiological studies did not suggest a peripheral neuropathy and additional investigations excluded a primary demyelinating process as the cause of her neurological deficits. Interestingly, this patient was eventually found to harbo...
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