Database : MEDLINE
Search on : Mobius and Syndrome [Words]
References found : 454 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 46 go to page                         

  1 / 454 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 29336632
[Au] Autor:Verner A; Agarwal-Sinha S; Han FY
[Ad] Address:a Department of Ophthalmology , University of Florida , Gainesville , FL , USA.
[Ti] Title:Möbius syndrome with cardiac rhabdomyomas.
[So] Source:Ophthalmic Genet;:1-4, 2018 Jan 16.
[Is] ISSN:1744-5094
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. MATERIALS AND METHODS: Observational case report of an infant seen at a tertiary academic center with genetic testing, ophthalmic, neurological, and cardiac clinical examination and imaging. RESULTS: A newborn baby boy at birth was seen with multiple congenital craniofacial malformations, and respiratory distress. He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia with -4 abduction deficit and facial palsy, findings suggestive of Möbius Syndrome. MRI of the brain was unremarkable except for syringomyelia in the cervical spine. Echocardiography showed two cardiac rhabdomyomas in the right ventricle and ulltrasound of the abdomen showed mild right hydroneprosis. Cytogenetics revealed segmental loss at 21q21.2. Testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2. CONCLUSION: This case highlights the rare co-occurrence of cardiac rhabdomyomas with Möbius syndrome and new segmental loss at 21q21.2 on genetic testing. Findings could indicate not a "suggestion of Möbius", but rather the syndrome itself in association with cardiac defects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180206
[Lr] Last revision date:180206
[St] Status:Publisher
[do] DOI:10.1080/13816810.2017.1423336

  2 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29325381
[Au] Autor:Cen J; Kang XL; Yu J; Dong LY; Wei Y; Zhao KX
[Ad] Address:Xinhua Hospital Affiliated To Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
[Ti] Title:[Longterm surgery outcome of Möbius syndrome].
[So] Source:Zhonghua Yan Ke Za Zhi;53(12):897-902, 2017 Dec 11.
[Is] ISSN:0412-4081
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract: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. Early surgery is done to the 7 esotropia children. The pre-operative and post-operative outcomes, including the ocular alignment, deviation measurements and ocular rotations, were evaluated and compared. MRI showed absence of uni- or bilateral CN6 and CN7 in all 7 patients. All 7 patients underwent extra large recession of medial rectus at the first surgery, (6.17±1.47) mm/eye. Variation of ocular deviation in the primary position within 6 months postoperatively in all patients, demonstrating that strabismus surgical stabilization needs time. Three patients with esotropia deviation≥40° preoperative were under corrected and needed the secondary operations. The average deviation in the primary position was +35.00°±16.58° before surgery and +2.14°±5.67° after surgery( 6.040, 0.01). The abduction in affected eye is limited both pre and postoperatively and a smaller limitation of adduction after surgery. Möbius syndrome has been classified to congenital cranial dysinnervation disorders (CCDDs). We recommend MR recession as the first surgical choice because of the lack of abduction ability. Longterm surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction. .
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180111
[Lr] Last revision date:180111
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.0412-4081.2017.12.004

  3 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29156061
[Au] Autor:Zheng Y; Donahue SP
[Ti] Title:Bilateral Superior Rectus Transposition With Bilateral Medial Rectus Recession for Möbius Syndrome.
[So] Source:J Pediatr Ophthalmol Strabismus;54:e81-e82, 2017 Nov 17.
[Is] ISSN:1938-2405
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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.].
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171120
[Lr] Last revision date:171120
[St] Status:In-Process
[do] DOI:10.3928/01913913-20170907-09

  4 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29153254
[Au] Autor:Cardenas-Mejia A; Palafox D
[Ad] Address: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.
[Ti] Title:Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America.
[So] Source:Ann Chir Plast Esthet;, 2017 Nov 15.
[Is] ISSN:1768-319X
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract: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. Distribution according to Möbius Syndrome classification presents as follows: Complete Möbius syndrome (n=88), Incomplete Möbius syndrome (n=28), Möbius-Like syndrome (n=8). Seventy-nine female and 45 male patients. Sixty-one percent have undergone a microsurgical procedure (n=76), in all of them, a free gracilis flap transfer was performed. DISCUSSION: Our proposed treatment protocol for complete Möbius syndrome is determined by the available donor nerves. We prefer to use the masseteric nerve as first choice, however, if this nerve is not available, then our second choice is the spinal accesory nerve. For this purpose, all patients have an electromyography performed preoperatively. Overall, dynamic facial reanimation obtained through the microvascular transfer of the gracilis muscle have proved to improve notoriously oral comissure excursion and speech intelligibility. CONCLUSION: The free gracilis flap transfer is a reproducible procedure for patients with Möbius syndrome. It is of utmost importance to select the best motor nerve possible, based on an individualized preoperative clinical and electromyographic evaluation. To our best knowledge, this is the largest series of patients with Möbius syndrome globally, treated at a single-institution.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171120
[Lr] Last revision date:171120
[St] Status:Publisher

  5 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29062251
[Au] Autor:Albayrak HM; Tarakçi N; Altunhan H; Örs R; Çaksen H
[Ad] Address:Department of Pediatrics, Division of Pediatric Genetic Diseases, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.
[Ti] Title:A congenital cranial dysinnervation disorder: Möbius' syndrome.
[So] Source:Turk Pediatri Ars;52(3):165-168, 2017 Sep.
[Is] ISSN:1306-0015
[Cp] Country of publication:Turkey
[La] Language:eng
[Ab] Abstract: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. However, several factors have been proposed for the etiology, some rare cases have also been reported with artificial reproductive technologies. Feeding difficulties and aspiration are the main problems encountered in infancy. The other cranial nerves should be examined further in newborns who present with congenital facial palsy, and other cranial dysinnervation disorders should be considered in the differential diagnosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171026
[Lr] Last revision date:171026
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.5152/TurkPediatriArs.2017.2931

  6 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29042871
[Au] Autor:Lee KY; Shin E
[Ad] Address:Department of Pediatrics, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
[Ti] Title:Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.
[So] Source:Korean J Pediatr;60(9):282-289, 2017 Sep.
[Is] ISSN:1738-1061
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract: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. RESULTS: Fifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome. CONCLUSION: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171022
[Lr] Last revision date:171022
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3345/kjp.2017.60.9.282

  7 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29016863
[Au] Autor:Fazeli W; Herkenrath P; Stiller B; Neugebauer A; Fricke J; Lang-Roth R; Nürnberg G; Thoenes M; Becker J; Altmüller J; Volk AE; Kubisch C; Heller R
[Ad] Address:Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
[Ti] Title:A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
[So] Source:Hum Mol Genet;26(20):4055-4066, 2017 Oct 15.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. In a five-generation pedigree, we identified a heterozygous mutation of TUBB6, a gene encoding a class V tubulin which has not been linked to a human hereditary disease so far. The missense mutation (p.Phe394Ser) affects an amino acid residue highly conserved in evolution, and co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis. Expression of the mutated protein in yeast led to an impaired viability compared to wildtype cells when exposed to the microtubule-poison benomyl. Our findings enlarge the spectrum of tubulinopathies and emphasize that mutations of TUBB6 should be considered in patients with congenital non-progressive facial palsy. Further studies are needed to verify whether this phenotype is indeed part of the CCDD spectrum.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171010
[Lr] Last revision date:171010
[St] Status:In-Process
[do] DOI:10.1093/hmg/ddx296

  8 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28930886
[Au] Autor:Provencher LM; Carter KD; Nerad JA; Alward WLM
[Ad] Address:*Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals and Clinics, Iowa City, IA †Cincinnati Eye Institute, Cincinnati, OH.
[Ti] Title:Upper Eyelid Splitting to Facilitate the Insertion of Glaucoma Drainage Devices.
[So] Source:J Glaucoma;26(11):e249-e251, 2017 Nov.
[Is] ISSN:1536-481X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Both patients had severe, medically uncontrolled glaucoma, but poor surgical exposure precluded implantation of a GDD. Both cases underwent vertical splitting of the upper eyelid, which allowed for adequate exposure of the superior globe quadrants and successful implantation of a GDD. CONCLUSIONS: A variety of congenital or acquired conditions result in narrowing of the palpebral fissure or restriction of extraocular motility. When these patients have concurrent advanced glaucoma, inadequate surgical exposure can impede necessary surgical intervention. Use of a vertical upper eyelid split technique allows for access to the superior globe and facilitates implantation of a GDD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171103
[Lr] Last revision date:171103
[St] Status:In-Process
[do] DOI:10.1097/IJG.0000000000000789

  9 / 454 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28904220
[Au] Autor:Fels R
[Ad] Address:From the Clinical Vision Science Faculty of Health, IWK Health Centre Eye Clinic, Dalhousie University, Halifax, Nova Scotia, Canada.
[Ti] Title:Congenital Cranial Dysinnervation Disorders: A Literature Review.
[So] Source:Am Orthopt J;67(1):89-92, 2017 Jan.
[Is] ISSN:0065-955X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain. It will also highlight areas of current research being done in the area of cranial nerve development. Increased knowledge and awareness of these disorders has resulted in more research being conducted. These studies have provided a more complete understanding of efferent motor system development and are leading to improved treatment strategies for patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:In-Process
[do] DOI:10.3368/aoj.67.1.89

  10 / 454 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 28538051
[Au] Autor:K McClure P; Kilinc E; Oishi S; I Riccio A; A Karol L
[Ad] Address:Texas Scottish Rite Hospital Dallas, TX.
[Ti] Title:Mobius Syndrome: A 35-Year Single Institution Experience.
[So] Source:J Pediatr Orthop;37(7):e446-e449, 2017 Oct/Nov.
[Is] ISSN:1539-2570
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Records and radiographs were reviewed for associated orthopaedic conditions and their management. RESULTS: In total, 44 patients with Mobius syndrome were identified. Age at presentation ranged from 6 days to 14 years. When compared with the general population, patients with Mobius syndrome had an increased incidence of clubfoot (41%), Poland syndrome (20%), and scoliosis (14%). Clubfoot treated both before and after the institution of Ponseti casting had a high rate of requiring posteromedial release, with a significant rate of subsequent revision. Hip dysplasia was noted in 1 patient and required surgical correction. Other associated syndromes included arthrogryposis, Pierre Robin syndrome, and chromosome 10 defect. CONCLUSIONS: Mobius syndrome is accompanied by an increased rate of several orthopaedic problems; most notably clubfoot, scoliosis, and upper extremity differences that often require surgical treatment. The management of clubfoot in the setting of Mobius syndrome often requires surgical intervention due to failure of casting, and seems to have a higher rate of need for revision. Early involvement of orthopaedists in the care of patients with Mobius syndrome is often necessary. Orthopaedist should counsel families that treatment may be more complex than that of idiopathic disease. LEVEL OF EVIDENCE: Level IV-case series.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170906
[Lr] Last revision date:170906
[St] Status:In-Process
[do] DOI:10.1097/BPO.0000000000001009


page 1 of 46 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information