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Moebius Syndrome

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https://www.readbyqxmd.com/read/27729154/enhancing-surgical-outcomes-the-effects-of-speech-therapy-on-a-school-aged-girl-with-moebius-syndrome
#1
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
#2
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
#3
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
#4
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...
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
#5
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
#6
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
#7
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...
May 19, 2016: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27061084/salivary-parameters-and-oral-health-in-the-moebius-syndrome
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/26868039/managing-the-child-with-a-diagnosis-of-moebius-syndrome-more-than-meets-the-eye
#12
REVIEW
Victoria H McKay, Leila L Touil, Dagan Jenkins, Adel Y Fattah
Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount.
September 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/26163776/considerations-on-the-etiology-of-congenital-brown-syndrome
#13
Tracey Coussens, Forrest J Ellis
PURPOSE OF REVIEW: Brown syndrome is an ocular motility disorder characterized by limited volitional and passive elevation of the eye in adduction. Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital Brown syndrome may be related to neurodevelopmental abnormalities of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD)...
July 2015: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/26089183/randomized-double-blind-placebo-controlled-study-of-encenicline-an-%C3%AE-7-nicotinic-acetylcholine-receptor-agonist-as-a-treatment-for-cognitive-impairment-in-schizophrenia
#14
RANDOMIZED CONTROLLED TRIAL
Richard S E Keefe, Herbert A Meltzer, Nancy Dgetluck, Maria Gawryl, Gerhard Koenig, Hans J Moebius, Ilise Lombardo, Dana C Hilt
Encenicline is a novel, selective α7 nicotinic acetylcholine receptor agonist in development for treating cognitive impairment in schizophrenia and Alzheimer's disease. A phase 2, double-blind, randomized, placebo-controlled, parallel-design, multinational study was conducted. Patients with schizophrenia on chronic stable atypical antipsychotics were randomized to encenicline 0.27 or 0.9 mg once daily or placebo for 12 weeks. The primary efficacy end point was the Overall Cognition Index (OCI) score from the CogState computerized battery...
December 2015: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/26007620/a-new-hereditary-congenital-facial-palsy-case-supports-arg5-in-hox-dna-binding-domain-as-possible-hot-spot-for-mutations
#15
Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Hilal Ozgur, Seher Basaran, Hülya Kayserili
Moebius syndrome (MBS) is a rare congenital disorder characterized by rhombencephalic mal development, mainly presenting with facial palsy with limited gaze abduction. Most cases are sporadic, possibly caused by a combination of environmental and genetic factors; however, no proven specific associations have been yet established. Hereditary congenital facial palsy (HCFP) is an autosomal dominant congenital dysinnervation syndrome, recognizable by the isolated dysfunction of the seventh cranial nerve. Mutant mice for Hoxb1 were reported to present with facial weakness, resembling MBS...
June 2015: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/25989267/atraumatic-restorative-technique-case-report-on-dental-management-of-a-patient-with-moebius-syndrome
#16
A Pradhan, M Gryst
BACKGROUND: Clinical challenges associated with Moebius syndrome, a rare congenital neuromuscular disorder, include orofacial anomalies like microstomia, limited mouth opening and severe gag reflex. METHODS: This case report presents the dental management of an anxious female with Moebius syndrome. For restorations, atraumatic restorative technique (ART), using glass ionomer cement was used with hand instruments. RESULTS: All necessary dental treatment was completed in the dental chair, thus avoiding the need for a general anaesthetic, and associated complications with airway management due to orofacial abnormalities...
June 2015: Australian Dental Journal
https://www.readbyqxmd.com/read/25838174/congenital-cranial-dysinnervation-disorder-in-a-boy-with-congenital-mirror-movements
#17
Mohammed Al Shamrani, Faeeqah Mahmoudi, Khaled K Abu-Amero, Arif O Khan
"Mirror movements" are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically involving the fingers of the hand. They can be isolated or associated with conditions such as Klippel-Feil syndrome, Kallmann syndrome, or congenital hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome...
April 2015: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/25803556/-congenital-cranial-dysinnervation-disorders-ccdd
#18
REVIEW
M M Nentwich, M F Nentwich, J Maertz, U Brandlhuber, G Rudolph
Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as "congenital fibrosis syndromes". Based on the results of genetic testing, these ocular motility disorders are now referred to as "congenital cranial dysinnervation disorders" (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles...
March 2015: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/25785409/unmasking-moebius-syndrome
#19
Amy Ellwood Meyer
No abstract text is available yet for this article.
April 2015: Nursing
https://www.readbyqxmd.com/read/25663568/examining-the-genetics-of-congenital-facial-paralysis-a-closer-look-at-moebius-syndrome
#20
Sameep Kadakia, Samuel N Helman, Thomas Schwedhelm, Masoud Saman, Babak Azizzadeh
OBJECTIVES: The molecular underpinnings of Moebius syndrome (MBS) are diverse. This article provides a comprehensive summation of the genetic and etiologic literature underlying this disorder. Elucidating the genetic causes of the disorder can aid in earlier detection and treatment planning. DESIGN: Articles from 1880-2013 were selected and reviewed by six researchers to understand all of the molecular theories and chronicity of advancements in the literature. RESULTS: Mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways...
June 2015: Oral and Maxillofacial Surgery
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