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Möbius syndrome

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https://www.readbyqxmd.com/read/27884122/assessment-of-copy-number-variations-in-120-patients-with-poland-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/26068067/de-novo-mutations-in-plxnd1-and-rev3l-cause-m%C3%A3-bius-syndrome
#8
Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, Manvendra K Singh, Jonathan A Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P M de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner, Antonio Pérez Aytés, Faustino Marin, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind, George W Padberg, Hans van Bokhoven
Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Möbius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development: neural migration and DNA translesion synthesis, essential for the replication of endogenously damaged DNA, respectively...
2015: Nature Communications
https://www.readbyqxmd.com/read/25992099/m%C3%A3-bius-syndrome-misoprostol-use-and-speech-and-language-characteristics
#9
Zelita Caldeira Ferreira Guedes
Introduction Möbius syndrome (MS; VI and VII palsy) is a rare disease that in Brazil has a great frequency because of the use of misoprostol during pregnancy. Objective Verify if the speech and language performance of children with MS whose mothers reported use of misoprostol (Cytotec, Pfizer, Connecticut, USA) are different from the performance of children of mothers who did not report use. Methods The stomatognathic system beyond receptive and expressive language and speech was evaluated in children with MS, and their mothers were questioned whether they used misoprostol during the pregnancy...
July 2014: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/25992096/the-etiology-of-m%C3%A3-bius-syndrome-a-social-problem
#10
Geraldo Pereira Jotz, Karine Schwarz
No abstract text is available yet for this article.
July 2014: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/25904251/-a-case-of-m%C3%A3-bius-syndrome-with-congenital-facial-palsy-and-supranuclear-oculomotor-palsy
#11
Mitsuru Furuta, Masahito Mihara, Yasuyoshi Kimura, Tatsusada Okuno, Masanori P Takahashi, Hideki Mochizuki
An 18-year-old man with congenital weakness in the facial and mastication muscles was referred to us. His facial senses were intact; however, the bilateral massetter and facial muscles were extremely weak and atrophic. He presented lagophthalmos and had difficulty in closing his mouth. The voluntary movements of his left eye, such as abduction, adduction, and elevation, were partially impaired, without the impairment of the Bell phenomenon. Nerve conduction studies of the facial nerves revealed normal distal latencies for bilateral orbicularis oculi...
2015: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/25834693/mobius-syndrome-and-poland-syndrome-presenting-together-in-a-single-patient
#12
Mustafa Chopan, Lohrasb Sayadi, Donald Laub
No abstract text is available yet for this article.
2015: Eplasty
https://www.readbyqxmd.com/read/25833072/speech-production-intelligibility-and-oromotor-function-in-seven-individuals-with-m%C3%A3-bius-sequence
#13
Lotta Sjögreen, Kajsa Eklund, Anna Nilsson, Christina Persson
PURPOSE: Möbius sequence is a rare disease characterized by congenital facial and abducent nerve palsy. Other cranial nerves may be affected. Cleft palate, intellectual disability and neuropsychiatric disorders are associated with the diagnosis. The aim was to explore speech production, intelligibility and oromotor function in a group of individuals with Möbius sequence. METHOD: Three children (5-11 years) and four adults (26-54 years) were recruited to the study via the Swedish Möbius syndrome association...
April 2, 2015: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/25804012/electroconvulsive-therapy-during-pregnancy-as-a-possible-cause-of-m%C3%A3-bius-syndrome-additional-clinical-observation
#14
G Sandal, H Cetin
Möbius syndrome is a rare congenital disease with a prevalence of between 0.0002 and 0.002% of births. Minimum diagnostic criteria for this disease include congenital unilateral or bilateral facial and abducens nerve paresis. Occasionally, the cranial nerves V and VIII are affected. If cranial VIII is affected, the person experiences hearing loss. Other findings in these patients that are not part of the diagnostic criteria include the involvement of other cranial nerves, malformations of orofacial structures, reductive limb anomalies, and defects of the chest wall...
2014: Genetic Counseling
https://www.readbyqxmd.com/read/25785409/unmasking-moebius-syndrome
#15
Amy Ellwood Meyer
No abstract text is available yet for this article.
April 2015: Nursing
https://www.readbyqxmd.com/read/25633065/the-congenital-cranial-dysinnervation-disorders
#16
REVIEW
N J Gutowski, J K Chilton
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance...
July 2015: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/25489334/depression-and-attempted-suicide-under-pregabalin-therapy
#17
Andreas Kustermann, Cornelia Möbius, Timo Oberstein, Helge H Müller, Johannes Kornhuber
Originally developed for the treatment of epilepsy, pregabalin has become a compound with a wide spectrum of indications comprising anxiety disorders and chronic pain and is therefore largely prescribed. Thus, it is important for clinicians to be aware of rare, but serious adverse effects. The following report illustrates the case of a 20-year-old male with a severe depressive syndrome following pregabalin medication which even led to a suicide attempt.
2014: Annals of General Psychiatry
https://www.readbyqxmd.com/read/25415118/the-incidence-of-facial-vessel-agenesis-in-patients-with-syndromic-congenital-facial-palsy
#18
Daniel P Butler, Francis P Henry, Jonathan I Leckenby, Adriaan O Grobbelaar
BACKGROUND: Congenital facial palsy can result in significant disfigurement. A potential treatment option is free functional muscle transfer to reanimate the face. For this to be possible, a suitable recipient artery and vein must be present in the affected hemiface. In this study, the authors aim to identify whether patients with syndromic congenital facial palsy have a higher rate of facial vessel agenesis than those with isolated congenital facial palsy. METHODS: Patients were identified between November of 2006 and October of 2013...
December 2014: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/25388761/-moebius-syndrome-and-narcolepsy
#19
REVIEW
S Krämer, U Goldammer, E Sindern
BACKGROUND: Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia. CASE REPORT: We report on a patient with Moebius syndrome and the clinical presentation of a narcolepsy cataplexy syndrome. With the hypoplasia of the brainstem in the cranial magnetic resonance imaging, we were able to show the morphological correlate of Moebius syndrome. Comorbidity was detected by cognitive tests, polysomnography and detection of hypocretin in the cerebrospinal fluid...
December 2014: Der Nervenarzt
https://www.readbyqxmd.com/read/25306435/clinical-characteristics-and-outcomes-of-m%C3%A3-bius-syndrome-in-a-children-s-hospital
#20
Kiyoshi Matsui, Ai Kataoka, Atsuko Yamamoto, Koji Tanoue, Kenji Kurosawa, Jun Shibasaki, Makiko Ohyama, Noriko Aida
BACKGROUND: Möbius syndrome is a congenital disorder with facial and abducens palsy. Although a few case series studies have examined comorbid conditions in Möbius syndrome, follow-up and outcome data are sparse. OBJECTIVES: To examine the clinical characteristics and outcomes of Möbius syndrome. METHODS: Clinical data were reviewed for 10 patients. Neonatal history, neurological examination, comorbid anomalies, medical home care, outcomes, and neuroimaging were summarized...
December 2014: Pediatric Neurology
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