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Möbius syndrome

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https://www.readbyqxmd.com/read/29156061/bilateral-superior-rectus-transposition-with-bilateral-medial-rectus-recession-for-m%C3%A3-bius-syndrome
#1
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
#2
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
#3
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/29062251/a-congenital-cranial-dysinnervation-disorder-m%C3%A3-bius-syndrome
#4
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
#5
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
#6
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
#7
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, in order to facilitate glaucoma drainage device 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...
September 19, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27884122/assessment-of-copy-number-variations-in-120-patients-with-poland-syndrome
#14
Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
BACKGROUND: Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders...
November 25, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27695248/m%C3%A3-bius-syndrome
#15
Sameer Vyas, Anuj Prabhakar, K Uday Bhanu, Paramjeet Singh, Niranjan Khandelwal
No abstract text is available yet for this article.
October 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/27144914/homozygous-hoxb1-loss-of-function-mutation-in-a-large-family-with-hereditary-congenital-facial-paresis
#16
Markus Vogel, Eunike Velleuer, Leon F Schmidt-Jiménez, Ertan Mayatepek, Arndt Borkhardt, Malik Alawi, Kerstin Kutsche, Fanny Kortüm
Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2)...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26977161/orthopedic-manifestations-of-mobius-syndrome-case-series-and-survey-study
#17
Philip McClure, David Booy, Julia Katarincic, Craig Eberson
Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this population. Methods. Twenty-three individuals with Mobius Syndrome underwent orthopedic physical examination, and additional 96 patients filled out a survey for self-reported orthopedic diagnoses. Results. Clubfoot was present in 60% of individuals in the physical exam series and 42% of those in the survey. Scoliosis was present in 26% and 28%, respectively...
2016: International Journal of Pediatrics
https://www.readbyqxmd.com/read/26747696/establishment-of-two-mouse-models-for-cednik-syndrome-reveals-the-pivotal-role-of-snap29-in-epidermal-differentiation
#18
Stina A Schiller, Christina Seebode, Georg L Wieser, Sandra Goebbels, Wiebke Möbius, Mia Horowitz, Ofer Sarig, Eli Sprecher, Steffen Emmert
Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) gene cause the cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome. In this study, we created total (Snap29(-/-)) as well as keratinocyte-specific (Snap29(fl/fl)/K14-Cre) Snap29 knockout mice. Both mutant mice exhibited a congenital distinct ichthyotic phenotype resulting in neonatal lethality. Mutant mice revealed acanthosis and hyperkeratosis as well as abnormal keratinocyte differentiation and increased proliferation...
March 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/26341672/m%C3%A3-bius-syndrome-comprehensive-assessment-of-facial-palsy-and-oculomotor-deficits-with-magnetic-resonance-imaging
#19
Charlie Chia-Tsong Hsu, Dalveer Singh, Gigi Nga Chi Kwan
No abstract text is available yet for this article.
November 2015: Pediatric Neurology
https://www.readbyqxmd.com/read/26167228/m%C3%A3-bius-syndrome-associated-with-neurofibromatosis-type-1-a-rare-co-occurrence
#20
Ankush Sharma, Nitin Gupta, Tejinder Talwar, Munish Gupta
Möbius syndrome is a rare congenital disorder presenting with facial diplegia and horizontal gaze disturbance. Patients can have additional cranial nerve palsies and musculoskeletal deformities. Neurofibromatosis Type 1 is an uncommon neurocutaneous disorder. The only plausible link between these two disorders is autosomal dominant pattern of inheritance. Simultaneous occurrence of these two uncommon disorders has not been yet reported in literature, and it is the first case report to the best of our knowledge...
April 2015: Journal of Pediatric Neurosciences
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