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Møbius syndrom

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https://www.readbyqxmd.com/read/29668505/comparison-of-functional-results-after-cross-face-nerve-graft-spinal-accessory-nerve-and-masseter-nerve-innervated-gracilis-for-facial-paralysis-reconstruction-the-chang-gung-experience
#1
David Chwei-Chin Chuang, Johnny Chuieng-Yi Lu, Tommy Nai-Jen Chang, Vincent G Laurence
BACKGROUND: Using functioning free muscle transplantation (FFMT) for facial paralysis and postparalysis facial synkinesis reconstruction is our preferred technique. Gracilis was the first choice of muscle. Three motor neurotizers: cross-face nerve graft (CFNG), spinal accessory nerve (XI) and masseter nerve (V3) have been used as neurotizers for different indications. METHODS: A total of 362 cases of facial reanimation with FFMT were performed between 1986 and 2015...
April 17, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29643789/alternating-hypotropia-with-pseudoptosis-a-new-phenotype-of-congenital-cranial-dysinnervation-disorder
#2
Fady Sedarous, Toby Y B Chan, Inas Makar
Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29579019/long-term-outcomes-of-smile-reconstruction-in-m%C3%A3-bius-syndrome
#3
Irina Domantovsky, Jocelyne Copeland, Rachel M Clancy, Ronald M Zuker, Gregory H Borschel
BACKGROUND: Gracilis muscle transplant is the standard of care for smile reconstruction in children with Möbius syndrome. The authors describe the long-term clinical efficacy, durability, and psychosocial impact of this approach at a mean follow-up of 20 years. METHODS: Patients with Möbius syndrome who underwent gracilis muscle transfer between 1985 and 2005 were included in the study. The authors assessed midfacial movements using photographs and Scaled Measurement of Improvement in Lip Excursion measure, administered the patient-reported Facial Clinimetric Evaluation Scale, and used semistructured interviews...
June 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29533695/labial-incompetence-in-mobius-syndrome-lefort-i-impaction-case-report-and-review-of-management-strategies
#4
Elbert E Vaca, Sergey Y Turin, Arun K Gosain
Difficulty with speech intelligibility in Mobius syndrome patients due to bilabial incompetence is common yet rarely discussed. We present a patient with Mobius syndrome who underwent counterclockwise LeFort I impaction to improve her labial competence. In addition, we present a literature review of management strategies for labial incompetence correction in Mobius patients. At 7-year follow-up after LeFort 1 impaction, the patient reports improvement in speech intelligibility, specifically regarding the ability to pronounce bilabial consonants...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29527709/drug-coated-balloons-for-de-novo-lesions-in-small-coronary-arteries-rationale-and-design-of-basket-small-2
#5
Nicole Gilgen, Ahmed Farah, Bruno Scheller, Marc-Alexander Ohlow, Norman Mangner, Daniel Weilenmann, Jochen Wöhrle, Peiman Jamshidi, Gregor Leibundgut, Sven Möbius-Winkler, Robert Zweiker, Florian Krackhardt, Christian Butter, Leonhard Bruch, Christoph Kaiser, Andreas Hoffmann, Peter Rickenbacher, Christian Mueller, Frank-Peter Stephan, Michael Coslovsky, Raban Jeger
The treatment of coronary small vessel disease (SVD) remains an unresolved issue. Drug-eluting stents (DES) have limited efficacy due to increased rates of instent-restenosis, mainly caused by late lumen loss. Drug-coated balloons (DCB) are a promising technique because native vessels remain structurally unchanged. Basel Stent Kosten-Effektivitäts Trial: Drug-Coated Balloons vs. Drug-Eluting Stents in Small Vessel Interventions (BASKET-SMALL 2) is a multicenter, randomized, controlled, noninferiority trial of DCB vs DES in native SVD for clinical endpoints...
March 11, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#6
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29325381/-longterm-surgery-outcome-of-m%C3%A3-bius-syndrome
#7
J Cen, X L Kang, J Yu, L Y Dong, Y Wei, K X Zhao
Objective: To investigate clinical features and the long-term surgery results of Möbius syndrome patients. Methods: This investigation presents a retrospective study of Möbius syndrome in 7 children we found since 2009. All 7 patients had MRI scan, ocular alignment in primary position, the limitation of versions and ductions and forced duction under general anesthesia. Early surgery is done to the 7 esotropia children. The pre-operative and post-operative outcomes, including the ocular alignment, deviation measurements and ocular rotations, were evaluated and compared...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29156061/bilateral-superior-rectus-transposition-with-bilateral-medial-rectus-recession-for-m%C3%A3-bius-syndrome
#8
Yuxi Zheng, Sean P Donahue
Bilateral superior rectus transposition with bilateral medial rectus recession has been described successfully for treatment of Duane's syndrome but never for Möbius syndrome. The authors describe a child with Möbius syndrome who presented with large bilateral abduction deficits and esotropia. This surgical treatment resulted in marked improvement of said deficits. [J Pediatr Ophthalmol Strabismus. 2017;54:e81-e82.].
November 17, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29153254/facial-reanimation-surgery-in-m%C3%A3-bius-syndrome-experience-from-76-cases-from-a-tertiary-referral-hospital-in-latin-america
#9
A Cardenas-Mejia, D Palafox
INTRODUCTION: Möbius syndrome is defined as a combined congenital bilateral facial and abducens nerve palsies. The main goal of treatment is to provide facial reanimation by means of a dynamic surgical procedure. The microneurovascular transfer of a free muscle transplant is the procedure of choice for facial animation in a child with facial paralysis. OBSERVATION: Between January 2008 and January 2017, 124 patients with the syndrome have been approached at our institution...
November 15, 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/29098745/prosthodontic-management-of-a-patient-with-moebius-syndrome-a-clinical-report
#10
Ahmed Mahrous, Ghadeer Thalji
Moebius/Mӧbius Syndrome (MS) is an extremely rare congenital disorder characterized by uni- or bilateral palsy of the abducens (VI) and the facial (VII) nerves, causing facial paralysis. Dysfunction of cranial nerves III through XII is common, most often the glossopharyngeal (IX) and hypoglossus (XII). Afflicted individuals seeking prosthodontic care, particularly removable prosthetics, present multiple challenges related to inherent facial and tongue muscle weakness and microstomia. Other extraoral anomalies may include congenital multiple arthrogryposis and malformations of the upper and lower limbs...
March 2018: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/29062251/a-congenital-cranial-dysinnervation-disorder-m%C3%A3-bius-syndrome
#11
Hatice Mutlu Albayrak, Nuriye Tarakçı, Hüseyin Altunhan, Rahmi Örs, Hüseyin Çaksen
Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#12
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29016863/a-tubb6-mutation-is-associated-with-autosomal-dominant-non-progressive-congenital-facial-palsy-bilateral-ptosis-and-velopharyngeal-dysfunction
#13
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Ruth Lang-Roth, Gudrun Nürnberg, Michaela Thoenes, Jutta Becker, Janine Altmüller, Alexander E Volk, Christian Kubisch, Raoul Heller
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28930886/upper-eyelid-splitting-to-facilitate-the-insertion-of-glaucoma-drainage-devices
#14
Lorraine M Provencher, Keith D Carter, Jeffrey A Nerad, Wallace L M Alward
PURPOSE: To describe a new application for vertical splitting of the upper eyelid, a technique traditionally used for orbital access, to facilitate glaucoma drainage device (GDD) implantation in patients with poor surgical exposure. METHODS: Case series. CASES: We present a case of Möbius syndrome with complete restriction of the extraocular muscles, followed by a case of cicatricial narrowing of the palpebral fissures due to chronic allergic dermatitis...
November 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#15
Philip K McClure, Eray Kilinc, Scott Oishi, Anthony I Riccio, Lori A Karol
BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015...
October 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28534340/imaging-of-cranial-nerves-iii-iv-vi-in-congenital-cranial-dysinnervation-disorders
#16
REVIEW
Jae Hyoung Kim, Jeong Min Hwang
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 visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence...
June 2017: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/28413599/rare-features-associated-with-mobius-syndrome-report-of-two-cases
#17
Rumela Ghosh, Vikram Shetty, Shruthi Hegde, G Subhas Babu, Vidya Ajila, Nanda Kishore P, Mithula Nair
Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28345573/clinical-correlation-of-imaging-findings-in-congenital-cranial-dysinnervation-disorders-involving-abducens-nerve
#18
Chanchal Gupta, Pradeep Sharma, Rohit Saxena, Ajay Garg, Sanjay Sharma
PURPOSE: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus in congenital cranial dysinnervation disorders which are Duane's retraction syndrome (DRS) and Mobius syndrome. MATERIALS AND METHODS: Morphological analysis by 3T MRI of orbit (using surface coils) and brain (using 32 channel head coil) was performed on 6 patients with clinical DRS (1 bilateral), 2 cases with Mobius syndrome, and 1 case with congenital sixth nerve palsy...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28337123/analysis-of-the-serotonergic-system-in-a-mouse-model-of-rett-syndrome-reveals-unusual-upregulation-of-serotonin-receptor-5b
#19
Steffen Vogelgesang, Sabine Niebert, Ute Renner, Wiebke Möbius, Swen Hülsmann, Till Manzke, Marcus Niebert
Mutations in the transcription factor methyl-CpG-binding-protein 2 (MeCP2) cause a delayed-onset neurodevelopmental disorder known as Rett syndrome (RTT). Although alteration in serotonin levels have been reported in RTT patients, the molecular mechanisms underlying these defects are not well understood. Therefore, we chose to investigate the serotonergic system in hippocampus and brainstem of male Mecp2(-/y) knock-out mice in the B6.129P2(C)-Mecp2(tm1.1Bird) mouse model of RTT. The serotonergic system in mouse is comprised of 16 genes, whose mRNA expression profile was analyzed by quantitative RT-PCR...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28104946/mobious-syndrome-mr-findings
#20
Maskal Revanna Srinivas, Dhulappa Mudabasappagol Vaishali, Kadaba Shamachar Vedaraju, Bangalore Rangaswamy Nagaraj
Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI) findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA) and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed...
October 2016: Indian Journal of Radiology & Imaging
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