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Mobius Syndrome

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Imaging findings in Möbius-Poland syndrome.

Vincent G Parenti, Xiaozhou Liu, Akshita Mehta, Rithvik Malireddy, Lydia A Sutherlun, Cory M Pfeifer,

Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male ... Read more >>

Radiol Case Rep (Radiology Case Reports)
[2020, 15(4):379-381]

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The Epidemiology of Moebius Syndrome

arturo carta, stefania favilla, Paolo Mora, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Berrnardo Bianchi, maria beatrice simonelli, roberta farci, Stefano gandolfi,

<title>Abstract</title> <p> Background: The epidemiology of Moebius Syndrome is actually unknown. In the present study we have investigated the epidemiology of MBS in a well defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral centre for the diagnosis and ... Read more >>

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Depression and anxiety in elderly patients with severe symptomatic aortic stenosis persistently improves after transcatheter aortic valve replacement (TAVR).

Laura Bäz, Marie Wiesel, Sven Möbius-Winkler, Julian G Westphal, P Christian Schulze, Marcus Franz, Gudrun Dannberg,

INTRODUCTION:Data on the prevalence of depression and anxiety in elderly cardiovascular disease patients are limited and there are only few studies focussing on treatment effects. Thus, the current study aimed to analyse elderly patients suffering from aortic stenosis (AS) and undergoing transcatheter aortic valve replacement (TAVR) with respect to both, ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2020, :]

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Difficult Airway Identification and Management in Patients With Moebius Syndrome.

Jose E Telich-Tarriba, Osvaldo Guevara-Valmaña, Sandra Ruiz-Beltran, Sebastian Aguiar-Rosas, Alexander Cardenas-Mejia,

BACKGROUND:Airway management in patients with Moebius syndrome can be difficult due to the presence of orofacial malformations. This paper aims to present our institution's experience in the evaluation and management of the upper airway in patients with Moebius syndrome METHODOLOGY:: The authors performed a retrospective study including every patient with ... Read more >>

J Craniofac Surg (The Journal of craniofacial surgery)
[2020, 31(1):183-185]

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Drug-coated balloon versus drug-eluting stent in small coronary artery lesions: angiographic analysis from the BASKET-SMALL 2 trial.

Gregor Fahrni, Bruno Scheller, Michael Coslovsky, Nicole Gilgen, Ahmed Farah, Marc-Alexander Ohlow, Norman Mangner, Daniel Weilenmann, Jochen Wöhrle, Florim Cuculi, Gregor Leibundgut, Sven Möbius-Winkler, Robert Zweiker, Raphael Twerenbold, Christoph Kaiser, Raban Jeger, ,

BACKGROUND:The randomized BASKET-SMALL 2 trial showed non-inferiority for treatment with drug-coated balloon (DCB) compared with drug-eluting stents (DES) in patients undergoing percutaneous coronary intervention (PCI) for de novo lesions in small coronary arteries regarding clinical endpoints at 1 year. In this predefined substudy, we investigated the angiographic findings in patients undergoing ... Read more >>

Clin Res Cardiol (Clinical research in cardiology : official journal of the German Cardiac Society)
[2020, :]

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Electromyographic evaluation of the facial and motor donor nerves before facial reanimation surgery in Moebius syndrome.

José E Telich-Tarriba, Alexander Cárdenas-Mejía,

Background:Moebius syndrome is a clinical entity characterized by bilateral facial and abducens nerve palsies; other cranial nerver might be affected as well. So far, no studies have reported the electromyographic responses of the facial musculature in this group of patients. Objective:The objective of our study is to describe the electromyographic ... Read more >>

Cir Cir (Cirugia y cirujanos)
[2020, 88(1):71-75]

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Associated syndromes in patients with Pierre Robin Sequence.

Peter Karempelis, Mitchell Hagen, Noelle Morrell, Brianne Barnett Roby,

OBJECTIVES:Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between ... Read more >>

Int. J. Pediatr. Otorhinolaryngol. (International journal of pediatric otorhinolaryngology)
[2020, 131:109842]

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Ocular features of Townes-Brocks syndrome.

Nita G Valikodath, Samiksha Jain, Marilyn Miller, Lawrence M Kaufman,

Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb. Ophthalmic findings have been rarely reported and include congenital cataract, microphthalmia, optic nerve atrophy, coloboma, epibulbar dermoid, and dysinnervation patterns, such as Duane syndrome and gustatory ... Read more >>

J AAPOS (Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus)
[2020, :]

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Mobius syndrome and obsessive compulsive disorder: a case report.

Denis Jacque, Michel Ossemann, Jean-Marc Timmermans, Nicolas Zdanowicz, Thomas Dubois,

BACKGROUND:Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face. SUBJECTS AND METHODS:Based on a literature review and a case discussion of an adult patient with Mobius syndrome and obsessive-compulsive disorder, initially undiagnosed and confused with ... Read more >>

Psychiatr Danub (Psychiatria Danubina)
[2019, 31(Suppl 3):376-380]

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TET1-mediated DNA hydroxy-methylation regulates adult remyelination

Sarah Moyon, Rebecca Frawley, Katy LH Marshall-Phelps, Linde Kegel, Sunniva MK Bøstrand, Boguslawa Sadowski, Dennis Huang, Yong-Hui Jiang, David Lyons, Wiebke Möbius, Patrizia Casaccia,

Abstract Adult myelination is essential for brain function and response to injury, but the molecular mechanisms remain elusive. Here we identify DNA hydroxy-methylation, an epigenetic mark catalyzed by Ten-Eleven translocation (TET) enzymes, as necessary for adult myelin repair. While DNA hydroxy-methylation and high levels of TET1 are detected in young ... Read more >>

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Orofacial motor dysfunction in Moebius syndrome.

Francis Renault, Roberto Flores-Guevara, Jean-Jacques Baudon, Bernard Sergent, Valérie Charpillet, Françoise Denoyelle, Briac Thierry, Jeanne Amiel, Cyril Gitiaux, Marie-Paule Vazquez,

AIM:To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS). METHOD:We retrospectively analysed the records of 32 patients (21 males, 11 females) with non-progressive bilateral facial and abducens palsies who had been examined before 6 months of age. RESULTS:All facial muscles were severely involved in 17 patients; ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2020, 62(4):521-527]

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Ankyloglossia Superior Associated With Moebius Syndrome: A Case Report.

Rafaela Costa Freire, Ana Paula da Cunha Barbosa, Michael David Han, Alexandre Meireles Borba,

Ankyloglossia superior is an exceedingly rare congenital condition that consists of a connection between the tongue and hard palate. This abnormality is considered part of the ankyloglossia superior syndrome when found with other malformations such as limb deformities, gastrointestinal malformation, and cleft palate. Ankyloglossia superior can also be associated with ... Read more >>

J. Oral Maxillofac. Surg. (Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons)
[2020, 78(1):87-90]

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Moebius syndrome: The challenge of dental management.

D Cudzilo, T Matthews-Brzozowska,

AIM:Moebius syndrome (MBS) is a rare disorder which involves unilateral or bilateral paralysis or lack of the VI and VII cranial nerves. This is accompanied by abnormalities affecting the head, mouth, upper and lower limbs, and chest. A distinguishing feature of this syndrome is the so-called mask-like face. A small ... Read more >>

Eur J Paediatr Dent (European journal of paediatric dentistry)
[2019, 20(2):143-146]

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Characterization of Hand Anomalies Associated With Möbius Syndrome.

Daniel M Koehler, Charles A Goldfarb, Alison Snyder-Warwick, Summer Roberts, Lindley B Wall,

PURPOSE:To investigate the distinguishing morphological characteristics of the upper extremities in children with Möbius syndrome. METHODS:Twenty-seven involved extremities in 14 patients with a diagnosis of Möbius syndrome were identified at 2 institutions. Medical records, radiographs, and clinical photographs were evaluated. Congenital hand differences were classified according to the Oberg, Manske, ... Read more >>

J Hand Surg Am (The Journal of hand surgery)
[2019, 44(7):548-555]

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Divergent roles of Plexin D1 in cancer.

Sneha Vivekanadhan, Debabrata Mukhopadhyay,

Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal guidance and vascular patterning. Mutations in Plexin D1 have been implicated in pathologic conditions such as truncus arteriosus and Möbius syndrome. Emerging data ... Read more >>

Biochim Biophys Acta Rev Cancer (Biochimica et biophysica acta. Reviews on cancer)
[2019, 1872(1):103-110]

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Bilateral facial paralysis as a rare neurological manifestation of primary Sjögren's syndrome: case-based review.

Zhang Wei, Shi Jiaying, Guo Junhong,

Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder associated with a variety of systemic presentations. Varied neurological dysfunctions of newly diagnosed adult patients with pSS have been observed in recent years. We aimed to describe a rare case of acute bilateral facial paralysis diagnosed with pSS for the first ... Read more >>

Rheumatol. Int. (Rheumatology international)
[2019, 39(9):1651-1654]

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Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Lusine Nazaryan-Petersen, Inês R Oliveira, Mana M Mehrjouy, Juan M M Mendez, Mads Bak, Merete Bugge, Vera M Kalscheuer, Iben Bache, Dustin C Hancks, Niels Tommerup,

Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped the breakpoints of a complex chromosomal rearrangement (CCR) ... Read more >>

Hum. Mutat. (Human mutation)
[2019, 40(8):1057-1062]

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Children with facial paralysis due to Moebius syndrome exhibit reduced autonomic modulation during emotion processing.

Elisa De Stefani, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, Anna Barbot, Chiara Bertolini, Gioacchino Garofalo, Bernardo Bianchi, Gino Coudé, Lynne Murray, Pier Francesco Ferrari,

BACKGROUND:Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of that affective state in the observer, along with related autonomic and somatic responses. What happens, therefore, when someone cannot mimic others' facial expressions? METHODS:We investigated whether ... Read more >>

J Neurodev Disord (Journal of neurodevelopmental disorders)
[2019, 11(1):12]

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Neuroimaging Findings in Moebius Sequence.

D A Herrera, N O Ruge, M M Florez, S A Vargas, M Ochoa-Escudero, M Castillo,

BACKGROUND AND PURPOSE:Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients ... Read more >>

AJNR Am J Neuroradiol (AJNR: American Journal of Neuroradiology)
[2019, 40(5):862-865]

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Long-term outcomes of strabismus surgery in Mobius sequence.

Gregg T Lueder, Marlo Galli,

Purpose: Mobius sequence is a rare disorder that results from underdevelopment of the sixth and seventh cranial nerves, with subsequent facial weakness and impairment of ocular abduction. Approximately half of the affected patients have esotropia with limitation of extraocular movements. This study retrospectively reviews the long-term outcome of strabismus surgery ... Read more >>

Strabismus (Strabismus)
[2019, 27(2):43-46]

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Segmental Gracilis Muscle Transplantation for Midfacial Animation in Möbius Syndrome: A 29-Year Experience.

Mélissa Roy, Erin Klar, Emily S Ho, Ronald M Zuker, Gregory H Borschel,

BACKGROUND:Möbius syndrome is a complex congenital disorder of unclear cause involving multiple cranial nerves and typically presenting with bilateral facial and abducens nerves palsies. At The Hospital for Sick Children, Toronto, Ontario, Canada, microneurovascular transfer of free-muscle transplant is the procedure of choice for midfacial animation. The primary aim of ... Read more >>

Plast. Reconstr. Surg. (Plastic and reconstructive surgery)
[2019, 143(3):581e-591e]

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DNA damage tolerance in stem cells, ageing, mutagenesis, disease and cancer therapy.

Bas Pilzecker, Olimpia Alessandra Buoninfante, Heinz Jacobs,

The DNA damage response network guards the stability of the genome from a plethora of exogenous and endogenous insults. An essential feature of the DNA damage response network is its capacity to tolerate DNA damage and structural impediments during DNA synthesis. This capacity, referred to as DNA damage tolerance (DDT), ... Read more >>

Nucleic Acids Res. (Nucleic acids research)
[2019, 47(14):7163-7181]

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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, Iñigo Marcos-Alcalde, Ilaria Parenti, Gloria Bueno-Lozano, Antonio Musio, Beatriz Puisac, Frank J Kaiser, Feliciano J Ramos, Paulino Gómez-Puertas, Juan Pié,

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt technology, and its app Face2Gene, is having a growing ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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Möbius syndrome associated with obesity and precocious puberty.

Samantha Roshani De Silva, Sally L Painter, Darius Hildebrand,

Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case of Möbius syndrome associated with obesity and with precocious puberty. ... Read more >>

BMJ Case Rep (BMJ case reports)
[2018, 11(1):]

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Congenital facial palsy and emotion processing: The case of Moebius syndrome.

Elisa De Stefani, Ylenia Nicolini, Mauro Belluardo, Pier Francesco Ferrari,

According to the Darwinian perspective, facial expressions of emotions evolved to quickly communicate emotional states and would serve adaptive functions that promote social interactions. Embodied cognition theories suggest that we understand others' emotions by reproducing the perceived expression in our own facial musculature (facial mimicry) and the mere observation of ... Read more >>

Genes Brain Behav. (Genes, brain, and behavior)
[2019, 18(1):e12548]

Cited: 2 times

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