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Moebius Syndrome

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https://www.readbyqxmd.com/read/29098745/prosthodontic-management-of-a-patient-with-moebius-syndrome-a-clinical-report
#1
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...
November 3, 2017: 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
#2
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
#3
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...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27260152/moebius-syndrome-clinical-features-diagnosis-management-and-early-intervention
#13
Odoardo Picciolini, Matteo Porro, Elisa Cattaneo, Silvia Castelletti, Giuseppe Masera, Fabio Mosca, Maria Francesca Bedeschi
BACKGROUND: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS...
June 3, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27232676/temporomandibular-joint-ankylosis-as-part-of-the-clinical-spectrum-of-carey-fineman-ziter-syndrome
#14
Martina Pasetti, Fabio Mazzoleni, Giorgio Novelli, Maria Iascone, Alberto Bozzetti, Angelo Selicorni
The Carey-Finema-Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene...
August 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27215002/ophthalmic-profile-and-systemic-features-of-pediatric-facial-nerve-palsy
#15
Preeti Patil-Chhablani, Sowmya Murthy, Meenakshi Swaminathan
BACKGROUND: Facial nerve palsy (FNP) occurs less frequently in children as compared to adults but most cases are secondary to an identifiable cause. These children may have a variety of ocular and systemic features associated with the palsy and need detailed ophthalmic and systemic evaluation. METHODS: This was a retrospective chart review of all the cases of FNP below the age of 16 years, presenting to a tertiary ophthalmic hospital over the period of 9 years, from January 2000 to December 2008...
December 2015: Eye Science
https://www.readbyqxmd.com/read/27212437/-electromyographic-assessment-of-the-temporalis-muscle-prior-to-a-lengthening-myoplasty-in-patients-with-moebius-syndrome
#16
F Renault, B Sergent, V Charpillet, C Gitiaux, M-P Vazquez
BACKGROUND/OBJECTIVES: Temporalis muscle lengthening myoplasty improves tightening of the lips and rehabilitates smile for patients with congenital facial palsies. Because Moebius syndrome is heterogeneous, a careful evaluation is mandatory before deciding to perform myoplasty. This series shows the role of electromyography for investigating temporalis muscle and trigeminal nerve motor functions. METHODS: We conducted a retrospective study of 18 patients with no upward movements of the labial commissure and absent or unsightly smile...
April 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27061084/salivary-parameters-and-oral-health-in-the-moebius-syndrome
#17
Maria Carolina Martins Mussi, Eduardo Moffa, Talita Castro, Adriana Lira Ortega, Gabrielle Freitas, Mariana Braga, Walter L Siqueira, Marina Helena Cury Gallottini
PURPOSE: To evaluate salivary characteristics, such as flow rate, buffering capacity and amylase activity, and associate these parameters with oral health in individuals with Moebius syndrome (MS) and controls. METHODS: The researchers assessed caries (ICDAS), periodontal disease (PSR), and plaque (Silness Löe) indexes in both groups. Unstimulated, stimulated, and bilateral parotid saliva were also collected. The salivary flow (milliliters/minute) and α-amylase activity were measured in all samples...
September 2016: Special Care in Dentistry
https://www.readbyqxmd.com/read/26942029/postobstructive-pulmonary-edema-following-tonsillectomy-adenoidectomy-in-a-2-year-old-with-poland-moebius-syndrome
#18
Tanisha Powell, Nirupma Sharma, Kathleen T McKie
A 2-year-old male with Poland-Moebius syndrome was transferred from a local hospital to the Pediatric ICU at Children's Hospital of Georgia for suspected postobstructive pulmonary edema (POPE) after tonsillectomy/adenoidectomy (T&A). The patient's respiratory status ultimately declined and he developed respiratory failure. Imaging suggested pulmonary edema as well as a left-sided pneumonia. Echocardiogram showed pulmonary hypertension and airway exam via direct fiberoptic bronchoscopy revealed tracheomalacia and bronchomalacia...
2016: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/26921525/quality-of-life-and-adjustment-in-children-and-adolescents-with-moebius-syndrome-evidence-for-specific-impairments-in-social-functioning
#19
Linda Strobel, Gerolf Renner
INTRODUCTION: Moebius syndrome is a rare congenital disorder characterized by congenital facial paralysis and impairment of ocular abduction. The absence of facial expression in people with Moebius syndrome may impair social interaction. The present study aims at replicating prior findings on psychological adjustment in children and adolescents with Moebius syndrome and providing first data on quality of life. PARTICIPANTS AND METHODS: Parents (n=26) and children and adolescents (n=14) with Moebius-Syndrome completed the KINDL(R) (Questionnaire for Measuring Health-Related Quality of Life in Children and Adolescents), the SDQ (Strengths and Difficulties Questionnaire), and a newly devised questionnaire on the global, social, and emotional impact of Moebius syndrome, including a scale that addressed what conjectures were made concerning the thoughts of other people about a child with Moebius syndrome...
June 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/26892218/caries-experience-in-individuals-with-moebius-syndrome
#20
Talita Castro, Adriana O L Ortega, Maria Carolina Mussi, Mariana M Braga, Marina Gallottini
PURPOSE: Moebius syndrome (MS) is a rare congenital facial diplegia characterized by partial or complete sixth and seventh cranial nerve palsy. Orofacial manifestations include micrognathia, increased overbite, high arched palate, morphological changes in the tongue, and dental crowding. Case reports and small case series have shown a high prevalence of caries in MS patients. The purpose of this study was to compare the prevalence of caries between individuals with Moebius syndrome and controls using the International Caries Detection and Assessment System (ICDAS)...
January 2016: Pediatric Dentistry
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