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Moebius Syndrome

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https://www.readbyqxmd.com/read/29774172/moebius-syndrome-with-hypoglossal-palsy-syndactyly-brachydactyly-and-anisometropic-amblyopia
#1
Muhammad Hassaan Ali, Samreen Jamal, Muhammad Ather Rashid, Usman Javaid, Nadeem Hafeez Butt
Moebius syndrome is a rare cause of congenital facial and abducens palsy.  It is sometimes associated with musculoskeletal abnormalities and other cranial nerve palsies. Genetics and ischemic insults to the fetus are considered to be the cause of this syndrome. We report here a 12-year-old female patient who was presented to us with poor cosmesis of her face, with associated decreased vision and lagophthalmos in her left eye. She didn't have any signs of exposure keratopathy in the affected eye. Her best-corrected vision was 20/20 and 20/60 in right and left eyes respectively...
March 16, 2018: Curēus
https://www.readbyqxmd.com/read/29557550/brainstem-dysgenesis-beyond-moebius-syndrome
#2
REVIEW
F Munell, M A Tormos, M Roig-Quilis
Brainstem dysgenesis designates all those patients with congenital dysfunction of cranial nerves and muscle tone due to prenatal lesions or malformations of the brainstem. This generic term has the advantage over the eponyms Moebius 'expanded' or 'unrestricted', Robin, Cogan or Carey-Fineman-Ziter syndromes in that it has a less restrictive view and provides a frame work that enables a systematic approach to diagnosis and research of most developmental disorders involving the brainstem. The review of the literature and our experience shows that infants with a predominant rombencephalic involvement are due to brainstem prenatal disruptive vascular accidents, while cases with midbrain and cerebellar involvement and widespread malformative syndromes have most likely an underlying genetic cause...
April 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29527867/orthodontics-and-moebius-syndrome-an-observational-study
#3
Marisabel Magnifico, Diana Cassi, Mauro Gandolfini, Andrea Toffoli, Piero A Zecca, Alberto DI Blasio
BACKGROUND: Moebius syndrome is a rare condition characterized by bilateral facial and abducens nerve paralysis. The aim of this study is to evaluate the main orthodontic features and the frequency of associated clinical characteristics in patients with Moebius Syndrome (MS). METHODS: According to Terzis classifications, 58 patients with MS aged 8 months to 46 years old underwent orthodontics and clinical examination. RESULTS: Strabismus, upper and lower limb malformations, lip and palatal cleft were frequently associated with MS...
March 8, 2018: Minerva Stomatologica
https://www.readbyqxmd.com/read/29424937/pathogenesis-of-cranial-neuropathies-in-moebius-syndrome-electrodiagnostic-orofacial-studies
#4
Francis Renault, Roberto Flores-Guevara, Bernard Sergent, Jean Jacques Baudon, Jessie Aouizerate, Marie-Paule Vazquez, Cyril Gitiaux
INTRODUCTION: We designed a retrospective study of 59 patients with congenital sporadic nonprogressive bilateral facial and abducens palsies. METHODS: Examinations included needle electromyography (EMG) of facial and oral muscles, facial nerve motor latency and conduction velocity (FNCV), and blink responses (BR). RESULTS: Neurogenic EMG changes were found in 1 or more muscles in 55 of 59 patients, with no abnormal spontaneous activity. EMG changes were homogeneously neurogenic in 17 patients, homogeneously myopathic in 1 patient, and heterogeneous in 41 of 59 patients...
February 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29356035/an-interesting-case-of-systemic-lupus-erythematosus-in-a-patient-with-moebius-syndrome
#5
Jefferson da Rocha Tenorio, Marília Andrade Figueiredo, Aline Espindula, Marina Gallottini, Karem López Ortega
Moebius' syndrome (MS) is characterized by a nonprogressive facial palsy associated with impairment in eye abduction, which can be uni- or bilateral. Some authors raise the possibility that patients with MS may suffer from social stigmatism due to their facial dysmorphism and that constant teasing and bullying perpetrated by people in the same social circle are adjuvants in the development of low self-esteem, behavioral problems, and even psychiatric disorders. Psychological stress, anxiety, and depression are factors contributing to both development and impairment of autoimmune diseases, such as systemic lupus erythematosus (SLE)...
March 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#6
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
March 2018: Brain & Development
https://www.readbyqxmd.com/read/29250664/morphological-changes-in-support-mechanism-of-superficial-face-layers-in-moebius-syndrome
#7
Marius Valeriu Hînganu, Cristinel Ionel Stan, Traian Ţăranu, Delia Hînganu
Moebius syndrome, also called congenital facial paralysis is a rare neurological disease, whose etiology is not fully elucidated. It affects especially facial and oculomotor cranial nerves and its clinical feature is peripheral facial paralysis. The objective of the study is to highlight the anatomical and functional changes in the Moebius syndrome and establish certain criteria that should be the basis for reparative surgery in this disease. For this purpose, we used a group of six patients diagnosed with this pathology, in whom we pursued functional anatomical and histological changes of the superficial layers of the face that we have grouped in terms of their clinical impact...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29216694/-evidence-level-and-grade-of-recommendation-of-the-ponseti-method-for-arthrogryposis-related-syndromic-talipes-equinovarus-and-moebius-syndrome-a-systematic-review
#8
J J Guerra-Jasso, J A Valcarce-León, H M Quíntela-Núñez-Del Prado
BACKGROUND: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome...
July 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/29098745/prosthodontic-management-of-a-patient-with-moebius-syndrome-a-clinical-report
#9
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/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#10
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#11
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#12
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28434583/a-proposal-for-new-neurorehabilitative-intervention-on-moebius-syndrome-patients-after-smile-surgery-proof-of-concept-based-on-mirror-neuron-system-properties-and-hand-mouth-synergistic-activity
#13
REVIEW
Pier Francesco Ferrari, Anna Barbot, Bernardo Bianchi, Andrea Ferri, Gioacchino Garofalo, Nicola Bruno, Gino Coudé, Chiara Bertolini, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, Elisa De Stefani
Studies of the last twenty years on the motor and premotor cortices of primates demonstrated that the motor system is involved in the control and initiation of movements, and in higher cognitive processes, such as action understanding, imitation, and empathy. Mirror neurons are only one example of such theoretical shift. Their properties demonstrate that motor and sensory processing are coupled in the brain. Such knowledge has been also central for designing new neurorehabilitative therapies for patients suffering from brain injuries and consequent motor deficits...
May 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28409036/pre-and-postsurgical-orthodontics-in-patients-with-moebius-syndrome
#14
Marisabel Magnifico, Diana Cassi, Ilda Kasa, Marco Di Blasio, Alberto Di Blasio, Mauro Gandolfini
The authors report a combined orthodontic-surgical correction of an adult patient's malocclusion affected by Moebius Syndrome (MS). The treatment was conducted at the Dentistry Unit and the Maxillofacial Surgery Unit of the University Hospital of Parma. Treatment of malocclusion was performed after the correction of facial mimic mobility with smile surgery. The postoperative stability and orthodontic results were good and the correction of the morphological problems related to the syndrome was very satisfactory...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28407536/-rare-place-where-i-feel-normal-perceptions-of-a-social-support-conference-among-parents-of-and-people-with-moebius-syndrome
#15
Kathleen R Bogart, Erika Frandrup, Taylor Locke, Hanna Thompson, Natalie Weber, Jacqueline Yates, Nicholas Zike, Amanda R Hemmesch
BACKGROUND: Moebius syndrome is a rare congenital disorder resulting in impaired facial and eye movement. People with rare diseases like Moebius syndrome experience stigma and a lack of specialized information. Support conferences may provide important forms of social support for people with rare disorders. AIMS: To examine reasons for attending, benefits, and limitations of support conferences. METHODS AND PROCEDURES: 50 adults with Moebius syndrome and 57 parents of people with Moebius syndrome completed open-ended items in an online study...
April 10, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#16
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28196268/three-cases-of-exotropic-moebius-syndrome
#17
Abbas Bagheri, Mohaddese Feizi
Moebius syndrome is characterized by congenital facial palsy and limitation in horizontal gaze. The surgical results of the exotropic pattern are rare and have not been published before. The authors report three cases of exotropic Moebius syndrome. Maximal weakening of the lateral rectus muscles followed by strengthening of the medial recti in exotropic Moebius syndrome can improve exotropia significantly. Most of these cases also need some measures to relieve the often associated severe dry eye. [J Pediatr Ophthalmol Strabismus...
February 14, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27729154/enhancing-surgical-outcomes-the-effects-of-speech-therapy-on-a-school-aged-girl-with-moebius-syndrome
#18
Elizabeth Fairgray, Anna Miles
PURPOSE: Moebius Syndrome is a rare congenital neurological condition often characterized by multiple cranial nerve involvement. This case study presents an eight-year old girl with Moebius Syndrome (MC) who received 30 sessions of speech therapy. This occurred after presenting to clinic 11 months after left facial reanimation with gracilis thigh muscle transfer surgery. On examination, only flickers of left facial movement were observed. There was no movement on the right side of the face...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27307336/bilateral-facial-paralysis-a-13-year-experience
#19
Robert A Gaudin, Nathan Jowett, Caroline A Banks, Christopher J Knox, Tessa A Hadlock
BACKGROUND: Bilateral facial palsy is a rare clinical entity caused by myriad disparate conditions requiring different treatment paradigms. Lyme disease, Guillain-Barré syndrome, and leukemia are several examples. In this article, the authors describe the cause, the initial diagnostic approach, and the management of long-term sequelae of bilateral paralysis that has evolved in the authors' center over the past 13 years. METHODS: A chart review was performed to identify all patients diagnosed with bilateral paralysis at the authors' center between January of 2002 and January of 2015...
October 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27276780/moebius-syndrome-challenges-of-airway-management
#20
Ivana Budić, Dušan Šurdilović, Anđelka Slavković, Vesna Marjanović, Marija Stević, Dušica Simić
Moebius syndrome is a rare nonprogressive congenital neurological disorder with a wide range of severity and variability of symptoms. This diversity is a consequence of dysfunction of different cranial nerves (most often facial and abducens nerves), accompanying orofacial abnormalities, musculoskeletal malformations, congenital cardiac diseases, as well as specific associations of Moebius and other syndromes. The authors present anesthesia and airway management during the multiple tooth extraction surgery in a 10-year-old girl with Moebius syndrome associated with Poland and trigeminal trophic syndromes...
March 2016: Acta Clinica Croatica
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