504 results match your criteria Mobius Syndrome


Psychological adjustment of young subjects with Möbius sequence and their primary caregivers' strain and life satisfaction: First longitudinal data.

Res Dev Disabil 2018 Nov 19;85:42-49. Epub 2018 Nov 19.

Department of Child and Adolescent Psychiatry, Psychosomatics & Psychotherapy, Leopoldina Hospital, Schweinfurt, Germany.

Aims/methods: At present, there is no information about the course of psychological adjustment in young subjects with Möbius sequence (MS) and their parents' strain and life satisfaction. To fill this gap, we performed a four-year follow-up study. Parents were anonymously asked to fill out the Child Behavior Checklist 4-18 [CBCL/ 4-18] or the Young Adult Behavior Checklist 18-30 [YABCL/ 18-30] and the Freiburger Personality Inventory-Revised [FPI-R], subscales strain and life satisfaction. Read More

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http://dx.doi.org/10.1016/j.ridd.2018.11.004DOI Listing
November 2018
2 Reads

Evaluation of Moebius syndrome with hand manifestations.

Acta Orthop Belg 2018 Mar;84(1):94-98

Moebius Syndrome (MS) is characterized by congenital paralysis of the 6th and 7th cranial nerves, sometimes combined with deficits in cranial nerves and with limb anomalies. We reported that identifying common upper extremity orthopedic manifestations of this syndrome would asist physicians who care for affected patients to promtly establish a dignosis and treatment plan. Our internal medical record system was queried and a keyword search for "Möbius/Moebius Syndrome" was conducted. Read More

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March 2018
4 Reads

Regarding Maxillary Impaction for the Treatment of Labial Incompetence in Mobius Syndrome.

Authors:
Travis L Gibson

Cleft Palate Craniofac J 2018 Sep 13:1055665618798289. Epub 2018 Sep 13.

BC Children's Hospital, Cleft and Craniofacial Clinic, Vancouver, British Columbia, Canada Email:

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http://dx.doi.org/10.1177/1055665618798289DOI Listing
September 2018

[Four cases of Mobius syndrome].

Zhonghua Er Ke Za Zhi 2018 Sep;56(9):699-700

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.09.014DOI Listing
September 2018

Management of Bilateral Facial Palsy.

Otolaryngol Clin North Am 2018 Dec 27;51(6):1213-1226. Epub 2018 Aug 27.

Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Electronic address:

Bilateral facial paralysis is a rare entity that occurs in both pediatric and adult patients and can have congenital or acquired causes. When paralysis does not resolve with conservative or medical management, surgical intervention may be indicated. This article presents the authors' preferred technique for facial reanimation in patients with bilateral congenital facial paralysis. Read More

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http://dx.doi.org/10.1016/j.otc.2018.07.014DOI Listing
December 2018
5 Reads

Möbius syndrome: clinico-radiologic correlation.

Graefes Arch Clin Exp Ophthalmol 2018 Nov 1;256(11):2219-2223. Epub 2018 Aug 1.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 173-82 Gumiro, Bundang-gu, Seongnam, Gyeonggi-do, 13620, South Korea.

Purpose: Möbius syndrome is characterized by abducens and facial nerve palsy. However, the presence/absence of corresponding cranial nerves on MRI was not fully evaluated. The purpose of this study was to investigate the mechanism of Möbius syndrome by associating the presence of abducens and facial nerves on MR imagings with clinical features. Read More

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http://dx.doi.org/10.1007/s00417-018-4089-3DOI Listing
November 2018
1 Read

Comparison of Functional Results After Cross-Face Nerve Graft-, Spinal Accessory Nerve-, and Masseter Nerve-Innervated Gracilis for Facial Paralysis Reconstruction: The Chang Gung Experience.

Ann Plast Surg 2018 Dec;81(6S Suppl 1):S21-S29

From the Department of Plastic Surgery, Chang Gung Memorial Hospital, Chang Gung University, Taipei-Linkou, Taiwan.

Background: Using functioning free muscle transplantation (FFMT) for facial paralysis and postparalysis facial synkinesis reconstruction is our preferred technique. Gracilis was the first choice of muscle. Three motor neurotizers: cross-face nerve graft (CFNG), spinal accessory nerve (XI) and masseter nerve (V3) have been used as neurotizers for different indications. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001327DOI Listing
December 2018
2 Reads

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.

Case Rep Ophthalmol 2018 Jan-Apr;9(1):96-101. Epub 2018 Feb 1.

Ivey Eye Institute, University of Western Ontario, London, Ontario, Canada.

Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs. Read More

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http://dx.doi.org/10.1159/000485832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5892332PMC
February 2018
1 Read

Long-Term Outcomes of Smile Reconstruction in Möbius Syndrome.

Plast Reconstr Surg 2018 06;141(6):868e-882e

Toronto, Ontario, Canada From the Division of Plastic and Reconstructive Surgery, and the Division of Occupational Therapy, Department of Rehabilitation Services, The Hospital for Sick Children; and the University of Toronto.

Background: Gracilis muscle transplant is the standard of care for smile reconstruction in children with Möbius syndrome. The authors describe the long-term clinical efficacy, durability, and psychosocial impact of this approach at a mean follow-up of 20 years.

Methods: Patients with Möbius syndrome who underwent gracilis muscle transfer between 1985 and 2005 were included in the study. Read More

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http://dx.doi.org/10.1097/PRS.0000000000004378DOI Listing
June 2018
2 Reads

Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies.

Cleft Palate Craniofac J 2018 Oct 13;55(9):1313-1315. Epub 2018 Mar 13.

1 Lurie Children's Hospital of Chicago, Division of Plastic and Reconstructive Surgery, Northwestern Feinberg School of Medicine, Chicago, IL, USA.

Difficulty with speech intelligibility in Mobius syndrome patients due to bilabial incompetence is common yet rarely discussed. We present a patient with Mobius syndrome who underwent counterclockwise LeFort I impaction to improve her labial competence. In addition, we present a literature review of management strategies for labial incompetence correction in Mobius patients. Read More

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http://dx.doi.org/10.1177/1055665618758540DOI Listing
October 2018
3 Reads

An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome.

Spec Care Dentist 2018 Mar 22;38(2):112-115. Epub 2018 Jan 22.

Department of Oral Pathology, Special Care Dentistry Centre, University of São Paulo, São Paulo, Brazil.

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). Read More

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http://dx.doi.org/10.1111/scd.12272DOI Listing

Möbius syndrome with cardiac rhabdomyomas.

Ophthalmic Genet 2018 Jun 16;39(3):373-376. Epub 2018 Jan 16.

b Department of Congenital Heart Center , University of Florida , Gainesville , FL , USA.

Background: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis. Read More

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http://dx.doi.org/10.1080/13816810.2017.1423336DOI Listing
June 2018
15 Reads

[Longterm surgery outcome of Möbius syndrome].

Zhonghua Yan Ke Za Zhi 2017 Dec;53(12):897-902

Xinhua Hospital Affiliated To Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

To investigate clinical features and the long-term surgery results of Möbius syndrome patients. This investigation presents a retrospective study of Möbius syndrome in 7 children we found since 2009. All 7 patients had MRI scan, ocular alignment in primary position, the limitation of versions and ductions and forced duction under general anesthesia. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2017.12.004DOI Listing
December 2017
2 Reads

TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.

Brain Dev 2018 Mar 27;40(3):233-237. Epub 2017 Dec 27.

Department of Pediatrics, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan.

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. Read More

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http://dx.doi.org/10.1016/j.braindev.2017.12.006DOI Listing
March 2018
1 Read

Morphological changes in support mechanism of superficial face layers in Moebius syndrome.

Rom J Morphol Embryol 2017 ;58(3):851-855

Department of Anatomy and Embryology, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania;

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. Read More

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August 2018
7 Reads

Bilateral Superior Rectus Transposition With Bilateral Medial Rectus Recession for Möbius Syndrome.

J Pediatr Ophthalmol Strabismus 2017 Nov 17;54:e81-e82. Epub 2017 Nov 17.

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. Read More

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http://dx.doi.org/10.3928/01913913-20170907-09DOI Listing
November 2017
6 Reads

Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America.

Ann Chir Plast Esthet 2018 Jul 15;63(4):338-342. Epub 2017 Nov 15.

Plastic and Reconstructive Surgery Department, Hospital General "Dr. Manuel Gea González", Avenida Calzada de Tlalpan #4800, Col. Sección XVI, Delegación Tlalpan, 14080 Mexico City, Mexico. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.anplas.2017.10.008DOI Listing
July 2018
10 Reads

A congenital cranial dysinnervation disorder: Möbius' syndrome.

Turk Pediatri Ars 2017 Sep 1;52(3):165-168. Epub 2017 Sep 1.

Department of Pediatrics, Division of Pediatric Neurology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.

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. Read More

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http://dx.doi.org/10.5152/TurkPediatriArs.2017.2931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644584PMC
September 2017
15 Reads

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.

Korean J Pediatr 2017 Sep 21;60(9):282-289. Epub 2017 Sep 21.

Korea Clinical Laboratory, Molecular Diagnostics Team, Seoul, Korea.

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. Read More

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http://dx.doi.org/10.3345/kjp.2017.60.9.282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638834PMC
September 2017
2 Reads

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Hum Mol Genet 2017 10;26(20):4055-4066

Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.

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. Read More

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http://dx.doi.org/10.1093/hmg/ddx296DOI Listing
October 2017
19 Reads

Upper Eyelid Splitting to Facilitate the Insertion of Glaucoma Drainage Devices.

J Glaucoma 2017 Nov;26(11):e249-e251

*Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals and Clinics, Iowa City, IA †Cincinnati Eye Institute, Cincinnati, OH.

Purpose: To describe a new application for vertical splitting of the upper eyelid, a technique traditionally used for orbital access, to facilitate glaucoma drainage device (GDD) 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. Read More

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http://dx.doi.org/10.1097/IJG.0000000000000789DOI Listing
November 2017
3 Reads

Congenital Cranial Dysinnervation Disorders: A Literature Review.

Authors:
Rebecca Fels

Am Orthopt J 2017 Jan;67(1):89-92

From the Clinical Vision Science Faculty of Health, IWK Health Centre Eye Clinic, Dalhousie University, Halifax, Nova Scotia, Canada.

Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. Read More

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http://dx.doi.org/10.3368/aoj.67.1.89DOI Listing
January 2017
9 Reads

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Am J Med Genet A 2017 Oct 4;173(10):2763-2771. Epub 2017 Aug 4.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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). Read More

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http://dx.doi.org/10.1002/ajmg.a.38375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843189PMC
October 2017
24 Reads

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Nat Commun 2017 07 6;8:16077. Epub 2017 Jul 6.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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. Read More

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http://dx.doi.org/10.1038/ncomms16077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504296PMC
July 2017
24 Reads
10.742 Impact Factor

Mobius Syndrome: A 35-Year Single Institution Experience.

J Pediatr Orthop 2017 Oct/Nov;37(7):e446-e449

Texas Scottish Rite Hospital Dallas, TX.

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. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001009DOI Listing
January 2018
12 Reads

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Korean J Ophthalmol 2017 Jun 12;31(3):183-193. Epub 2017 May 12.

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

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. Read More

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http://dx.doi.org/10.3341/kjo.2017.0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469921PMC
June 2017
13 Reads

Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome.

Nepal J Ophthalmol 2016 07;8(16):182-185

Introduction: Moebius syndrome is a rare disease characterized by unilateral or bilateral congenital nonprogressive facial nerve palsy along with limitation of ocular abductions. Vertical Rectus Transpositions with posterior fixation suture is known to correct abduction deficiencies in case of Moebius syndrome. Traditionally both superior and inferior rectus transposition are done to prevent any post operative vertical imbalance. Read More

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http://dx.doi.org/10.3126/nepjoph.v8i2.17017DOI Listing
July 2016
4 Reads

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.

Neurosci Biobehav Rev 2017 05;76(Pt A):111-122

Department of Medicine and Surgery, University of Parma, Parma, Italy. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.neubiorev.2017.01.050DOI Listing
May 2017
9 Reads

Rare features associated with Mobius syndrome: Report of two cases.

J Dent Res Dent Clin Dent Prospects 2017 15;11(1):60-65. Epub 2017 Mar 15.

Department of Oral Medicine and Radiology, A B Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, India.

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. Read More

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http://dx.doi.org/10.15171/joddd.2017.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390129PMC
March 2017
3 Reads

"Rare place where I feel normal": Perceptions of a social support conference among parents of and people with Moebius syndrome.

Res Dev Disabil 2017 May 10;64:143-151. Epub 2017 Apr 10.

Department of Psychology, St. Cloud State University, United States.

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. Read More

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http://dx.doi.org/10.1016/j.ridd.2017.03.014DOI Listing
May 2017
11 Reads

Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve.

Indian J Ophthalmol 2017 Feb;65(2):155-159

Department of Radiodiagnosis, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi,, India.

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. These were compared with findings in five controls. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1013_15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381296PMC
February 2017
14 Reads

Analysis of the Serotonergic System in a Mouse Model of Rett Syndrome Reveals Unusual Upregulation of Serotonin Receptor 5b.

Front Mol Neurosci 2017 8;10:61. Epub 2017 Mar 8.

DFG Research Center and Excellence Cluster Microscopy at the Nanometer Range and Molecular Physiology of the BrainGöttingen, Germany; Institute of Neuro- and Sensory Physiology, University Medical CenterGöttingen, Germany.

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 knock-out mice in the B6. Read More

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http://dx.doi.org/10.3389/fnmol.2017.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340760PMC
March 2017
14 Reads

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation.

Cold Spring Harb Mol Case Stud 2017 03;3(2):a000984

Department of Pediatrics, University of Montreal, Montreal, Quebec H3T 1C5, Canada.

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. Read More

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http://dx.doi.org/10.1101/mcs.a000984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334472PMC
March 2017
30 Reads

Three Cases of Exotropic Moebius Syndrome.

J Pediatr Ophthalmol Strabismus 2017 Feb 14;54:e9-e12. Epub 2017 Feb 14.

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. Read More

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http://dx.doi.org/10.3928/01913913-20170201-02DOI Listing
February 2017
6 Reads

Mobious syndrome: MR findings.

Indian J Radiol Imaging 2016 Oct-Dec;26(4):502-505

Department of Radiodiagnosis and Imaging, Victoria Hospital, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.

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. Read More

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http://dx.doi.org/10.4103/0971-3026.195790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5201082PMC
January 2017
4 Reads

Moebius sequence -a multidisciplinary clinical approach.

Orphanet J Rare Dis 2017 01 6;12(1). Epub 2017 Jan 6.

Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.

Background: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Read More

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http://dx.doi.org/10.1186/s13023-016-0559-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217236PMC
January 2017
4 Reads

Assessment of copy number variations in 120 patients with Poland syndrome.

BMC Med Genet 2016 Nov 25;17(1):89. Epub 2016 Nov 25.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

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. Read More

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http://dx.doi.org/10.1186/s12881-016-0351-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123256PMC
November 2016
11 Reads

Misoprostol exposure during the first trimester of pregnancy: Is the malformation risk varying depending on the indication?

Eur J Obstet Gynecol Reprod Biol 2016 Dec 11;207:188-192. Epub 2016 Nov 11.

Centre Régional de PharmacoVigilance du Nord-Pas de Calais, CHRU de Lille, France.

Objective: To report the prospective follow-up of pregnancies exposed to misoprostol during the first trimester and analyse the teratogenic risk depending on the indication for use.

Study Design: Prospective observational study of 265 women exposed to misoprostol during the first 12 weeks of pregnancy and followed until the delivery. Women were included if they or their physician had contacted a French pharmacovigilance centre before 22 weeks of gestation (WG) to obtain information on the risk of misoprostol exposure, and if there had been misoprostol exposure before 13 WG. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2016.11.007DOI Listing
December 2016
15 Reads

Congenital cranial dysinnervation disorders.

Int Ophthalmol 2017 Dec 11;37(6):1369-1381. Epub 2016 Nov 11.

Department of Ophthalmology, All India Institute of Medical Sciences, Rishikesh, India.

The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Read More

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http://dx.doi.org/10.1007/s10792-016-0388-zDOI Listing
December 2017
4 Reads

Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome.

Int J Pediatr Otorhinolaryngol 2016 Nov 3;90:58-62. Epub 2016 Sep 3.

Speech Science, The University of Auckland, New Zealand. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.ijporl.2016.08.031DOI Listing
November 2016
5 Reads

Möbius syndrome.

J Neurosci Rural Pract 2016 Oct-Dec;7(4):596-597

Department of Radiodiagnosis and Imaging, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://www.ruralneuropractice.com/text.asp?2016/7/4/596/1869
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006480PMC
http://dx.doi.org/10.4103/0976-3147.186974DOI Listing
October 2016
9 Reads

Bilateral Facial Paralysis: A 13-Year Experience.

Plast Reconstr Surg 2016 Oct;138(4):879-87

Boston, Mass. From the Department of Otolaryngology, Massachusetts Eye and Ear Infirmary and Harvard Medical School.

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. Read More

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http://dx.doi.org/10.1097/PRS.0000000000002599DOI Listing
October 2016
6 Reads

MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT.

Acta Clin Croat 2016 Mar;55 Suppl 1:94-7

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. Read More

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March 2016
6 Reads

Moebius syndrome: clinical features, diagnosis, management and early intervention.

Ital J Pediatr 2016 Jun 3;42(1):56. Epub 2016 Jun 3.

Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. Read More

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http://dx.doi.org/10.1186/s13052-016-0256-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893276PMC
June 2016
4 Reads

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

Am J Med Genet A 2016 08 27;170(8):2191-5. Epub 2016 May 27.

Department of Pediatric, Pediatric Genetic Unit, MBBM Foundation A.O.S. Gerardo, Monza, Italy.

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. Read More

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http://dx.doi.org/10.1002/ajmg.a.37767DOI Listing
August 2016
10 Reads

Ophthalmic profile and systemic features of pediatric facial nerve palsy.

Eye Sci 2015 Dec;30(4):147-50

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. Read More

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December 2015
49 Reads

[Electromyographic assessment of the temporalis muscle prior to a lengthening myoplasty in patients with Moebius syndrome].

Ann Chir Plast Esthet 2017 Apr 7;62(2):156-162. Epub 2016 Jul 7.

Centre de référence des malformations rares de la face et de la cavité buccale, hôpital Necker-Enfants-Malades, AP-HP, 75743 Paris 15, France; Service de chirurgie maxillo-faciale et chirurgie plastique de l'enfant, hôpital Necker-Enfants-Malades, AP-HP, 75743 Paris 15, France; Faculté de médecine Paris Descartes, université Paris 5, 75743 Paris 15, France.

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. Read More

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http://dx.doi.org/10.1016/j.anplas.2016.04.007DOI Listing

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

Am J Med Genet A 2016 07 4;170(7):1813-9. Epub 2016 May 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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). Read More

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http://dx.doi.org/10.1002/ajmg.a.37682DOI Listing
July 2016
15 Reads

Salivary parameters and oral health in the Moebius syndrome.

Spec Care Dentist 2016 Sep 7;36(5):265-70. Epub 2016 Apr 7.

Professor, Department of Oral Pathology and Special Patients, School of Dentistry, University of São aulo, São Paulo, Brazil.

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. Read More

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http://dx.doi.org/10.1111/scd.12175DOI Listing
September 2016
8 Reads

Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study.

Int J Pediatr 2016 8;2016:9736723. Epub 2016 Feb 8.

Division of Pediatric Orthopedics, Rhode Island Hospital, Providence, RI 02905, USA.

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. Read More

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http://dx.doi.org/10.1155/2016/9736723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761667PMC
March 2016
7 Reads