نتایج جستجو برای: inner ear malformations

تعداد نتایج: 129048  

2010
Cengiz Kara Mehtap Kılıç Ahmet Uçaktürk Murat Aydın

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid. Mutations in the PDS gene encoding pendrin protein have been shown to be associated with PDS. It has been recentl...

Journal: :AJNR. American journal of neuroradiology 2003
Christine M Glastonbury Nancy J Fischbein H Ric Harnsberger William P Dillon Thomas R Kertesz

Anomalies of the course of the facial nerve have been reported in association with middle and inner ear malformations. Bifurcation of its intratemporal portion is a rare malformation in which focal splitting of one or more facial nerve segments occurs. We describe the CT appearance of this anomaly and discuss its possible embryology. Facial nerve bifurcation is important to recognize in patient...

2017
Levent Sennaroğlu Münir Demir Bajin

Morphologically congenital sensorineural hearing loss can be investigated under two categories. The majority of congenital hearing loss causes (80%) are membranous malformations. Here, the pathology involves inner ear hair cells. There is no gross bony abnormality and, therefore, in these cases high-resolution computerized tomography and magnetic resonance imaging of the temporal bone reveal no...

Journal: :Trends in genetics : TIG 2002
Anna V Anagnostopoulos

Genetically engineered strains of mice, modified by gene targeting (knockouts), are increasingly being employed as alternative effective research tools in elucidating the genetic basis of human deafness. An impressive array of auditory and vestibular mouse knockouts is already available as a valuable resource for studying the ontogenesis, morphogenesis and function of the mammalian inner ear. T...

Journal: :Archives of otolaryngology--head & neck surgery 2010
Natalie Loundon Marion Blanchard Gilles Roger Françoise Denoyelle Erea Noël Garabedian

OBJECTIVES To report complications of cochlear implantation (CI) in children and to analyze risk factors. DESIGN Retrospective study from January 1, 1990, through April 30, 2008, with a mean follow-up of 5.5 years (range, 1 month to 17 years). SETTING Tertiary academic center. PATIENTS Four hundred thirty-four patients younger than 16 years. Mean age at CI was 4.7 (range, 0.6-16.0) years....

Journal: :AJNR. American journal of neuroradiology 1995
C R Guirado P Martínez R Roig F Mirosa J Salmerón F Florensa M Roger Y Barragán

PURPOSE To describe the steady-state free-precession MR sequence and its application to the study of the inner ear. METHOD The inner ear was imaged with CT and a 0.5-T MR unit in three dimension, to evaluate the various signals from the lumen of the labyrinth. RESULTS Normally, the signal from the perilymphatic and endolymphatic spaces is homogeneous. However, among our cases of neurosensor...

Journal: :The Journal of the Association of Physicians of India 2008
A Garg R Wadhera S P Gulati A Kumar

Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed a...

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