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Systematic phenotype and genotype characterization of Moebius syndrome [PDF]

open access: yesGenetics in Medicine Open
Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction.
Bryn D. Webb   +41 more
doaj   +3 more sources

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome [PDF]

open access: yesFrontiers in Genetics
Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities.
Carmen Manso-Bazús   +11 more
doaj   +3 more sources

Transformative Dental Care in Pediatric Moebius Syndrome: Bridging Oral Health and Systemic Management During Prolonged Hospitalization. [PDF]

open access: yesSpec Care Dentist
Moebius syndrome is a rare congenital disorder of unknown etiology. It is characterized by non‐progressive paralysis of the facial and abducens cranial nerves due to atrophy of their nuclei, often accompanied by malformations in the upper and lower limbs.
Delgado RZR   +3 more
europepmc   +3 more sources

Anesthetic Challenges of Caring for an Adult With Moebius Syndrome: A Case Report. [PDF]

open access: yesCase Rep Anesthesiol
Background Moebius syndrome (MBS) is a rare congenital disorder with facial nerve palsies and craniofacial malformations, increasing the risk of a difficult airway during anesthesia.
Vegunta G   +5 more
europepmc   +3 more sources

The epidemiology of Moebius syndrome in Italy [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2021
Background The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area.
Arturo Carta   +9 more
doaj   +2 more sources

Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research
Moebius syndrome and Duane Retraction Syndrome (DRS) are Congenital Cranial Dysinnervation Disorders (CCDDs) characterised as congenital, non progressive groups of diseases caused by abnormal development of cranial nerve nuclei or their axonal ...
Harnoor Kaur   +2 more
doaj   +2 more sources

Surgical Treatment of Clubfoot in Children with Moebius Syndrome [PDF]

open access: yesChildren, 2021
Moebius syndrome (MS) is a rare disease, with paralysis of the VI and VII cranial nerves, frequently associated with clubfoot (CF). The aim of this study was to evaluate surgical treatment of CF in MS, providing its peculiarities.
Maurizio De Pellegrin   +3 more
doaj   +2 more sources

Moebius syndrome and gastroschisis—The second case of a rare association

open access: yesAmerican Journal of Medical Genetics. Part A, 2023
American Journal of Medical Genetics Part A, Volume 194, Issue 1, Page 111-114, January 2024.
K. Brockmann, S. Kaulfuß
semanticscholar   +2 more sources

Oral manifestations and uncommon finding in children with Moebius syndrome: report of two cases

open access: yesRevista de Odontopediatria Latinoamericana
Moebius syndrome represents a rare congenital disorder characterized by non-progressive unilateral or bilateral paralysis of the facial and abducens nerves.
Lucas Fernando Oliveira Tomáz Ferraresso   +8 more
doaj   +2 more sources

Moebius syndrome and narcolepsy: A case dissertation [PDF]

open access: yesSleep Science, 2014
Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis.
Lídia Sabaneeff   +4 more
doaj   +2 more sources

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