Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

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Bilateral lateral rectus recession in exotropic Duane syndrome with downshoot.

OBJECTIVE To report that maximum weakening of lateral rectus muscles can improve significant exotropia in primary position, abnormal head posture, retraction, narrowing of palpebral fissure and downshoot in exotropic duannes retraction syndrome. CASE A 12-year-old boy with exotropic Duane syndrome presented with downshoot and globe retraction in attempted adduction. Squint surgery was underta...

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Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

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...

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[Duane vertical surgical treatment].

CASE REPORT We report 3 cases with a vertical incomitance in upgaze, narrowing of palpebral fissure, and pseudo-overaction of both inferior oblique muscles. Surgery consisted of an elevation of both lateral rectus muscles with an asymmetrical weakening. A satisfactory result was achieved in 2 cases, whereas a Lambda syndrome appeared in the other case. DISCUSSION The surgical technique of upp...

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Pseudo-Cerebrospinal Fluid Rhinorrhea Resulting from Aberrant Cross-Innervation of Trigeminal and Facial Nerves following Skull Base Surgery

Objectives Pseudo-cerebrospinal fluid (CSF) rhinorrhea is a rare phenomenon, presumed to result from aberrant autonomic reinnervation of the paranasal mucosa following injury to the greater superficial petrosal nerve or periarterial plexus. In this report, we discuss the case of a postoperative patient with pseudo-CSF rhinorrhea exacerbated by chewing and propose a novel mechanism of pseudo-CSF...

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Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to vis...

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ژورنال

عنوان ژورنال: Oman Journal of Ophthalmology

سال: 2014

ISSN: 0974-620X

DOI: 10.4103/0974-620x.142596