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Italian Journal of Pediatrics Jun 2016Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial...
BACKGROUND
Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS.
METHODS
The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS.
RESULTS
Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits.
CONCLUSION
Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.
Topics: Abducens Nerve; Adolescent; Child; Child, Preschool; Cohort Studies; Disability Evaluation; Early Medical Intervention; Facial Nerve; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Italy; Male; Mobius Syndrome; Neuropsychological Tests; Rare Diseases; Risk Assessment; Treatment Outcome
PubMed: 27260152
DOI: 10.1186/s13052-016-0256-5 -
Seminars in Plastic Surgery Feb 2004Möbius syndrome is classically defined as combined congenital bilateral facial and abducens nerve palsies, although it may also be associated with a myriad of other...
Möbius syndrome is classically defined as combined congenital bilateral facial and abducens nerve palsies, although it may also be associated with a myriad of other craniofacial, musculoskeletal, cardiothoracic, endocrinologic, and developmental disorders. The problem that most patients complain about, however, is the inability to smile and close their lips while eating. Although the etiology of this syndrome is still unknown, scientific support has been growing for the hypothesis that it is due to an embryological disruption of subclavian artery development. The treatment of choice for facial reanimation in these patients is a neurovascular free muscle transfer, ideally using the gracilis muscle with direct repair of the gracilis muscle's motor nerve to the masseteric branch of the trigeminal nerve. If the masseteric nerve is unavailable, a partial hypoglossal or accessory nerve may be used. These operations, enhanced by the effects of cerebral plasticity, may allow Möbius patients to reach their goals of satisfactory spontaneous smiles.
PubMed: 20574469
DOI: 10.1055/s-2004-823122 -
Journal of Neurosciences in Rural... 2016
PubMed: 27695248
DOI: 10.4103/0976-3147.186974 -
AJNR. American Journal of Neuroradiology Feb 2005We describe a case of Möbius syndrome in a 3-month-old infant. Striking imaging findings of pontine hypoplasia in the region of the 6th and the 7th nerve complexes were...
We describe a case of Möbius syndrome in a 3-month-old infant. Striking imaging findings of pontine hypoplasia in the region of the 6th and the 7th nerve complexes were noted. In addition, absence of the middle cerebellar peduncles was noted, a finding that, to our knowledge, has never been reported before in the literature. Clinical presentations, other radiologic findings, and a possible pathogenesis are discussed.
Topics: Humans; Infant; Magnetic Resonance Imaging; Male; Mobius Syndrome
PubMed: 15709151
DOI: No ID Found -
Biochimica Et Biophysica Acta. Reviews... Aug 2019Plexin 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... (Review)
Review
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 show that expression of Plexin D1 is deregulated in several cancers; it can support tumor development by aiding in tumor metastasis and EMT; and conversely, it can act as a dependence receptor and stimulate cell death in the absence of its canonical ligand, semaphorin 3E. The role of Plexin D1 in tumor development and progression is thereby garnering research interest for its potential as a biomarker and as a therapeutic target. In this review, we describe its discovery, structure, mutations, role(s) in cancer, and therapeutic potential.
Topics: Biomarkers, Tumor; Cell Adhesion Molecules, Neuronal; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Mobius Syndrome; Molecular Targeted Therapy; Neoplasm Metastasis; Neoplasms; Signal Transduction; Truncus Arteriosus
PubMed: 31152824
DOI: 10.1016/j.bbcan.2019.05.004 -
BMC Pediatrics Dec 2022Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7... (Review)
Review
BACKGROUND
Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7 cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome.
CASE PRESENTATION
We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome.
CONCLUSIONS
This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland's syndromes.
LEVEL OF EVIDENCE
Level V, Descriptive Study.
Topics: Child; Humans; Mobius Syndrome; Poland Syndrome; Mutation; Thoracic Wall; Central Nervous System
PubMed: 36581828
DOI: 10.1186/s12887-022-03803-3 -
Journal of Medical Genetics Aug 1981A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two... (Review)
Review
A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.
Topics: Abnormalities, Multiple; Adolescent; Facial Paralysis; Humans; Male; Pectoralis Muscles; Syndrome; Terminology as Topic
PubMed: 7024548
DOI: 10.1136/jmg.18.4.317 -
Clinical Ophthalmology (Auckland, N.Z.) 2022Abduction limitation in esotropic Duane retraction syndrome (DRS), esotropic Mobius syndrome, and sixth nerve palsy is one of the difficult-to-manage problems in... (Review)
Review
Abduction limitation in esotropic Duane retraction syndrome (DRS), esotropic Mobius syndrome, and sixth nerve palsy is one of the difficult-to-manage problems in strabismus surgery. The procedure of superior rectus transposition (SRT) was introduced by Johnston et al. In this procedure, the superior rectus (SR) muscle is disinserted and sutured adjacent to the insertion of lateral rectus (LR) muscle. The purpose of this review is to explore literature about efficacy and safety of SRT and its usage in strabismus surgery.
PubMed: 36444206
DOI: 10.2147/OPTH.S359313 -
The British Journal of Ophthalmology Dec 1957
Topics: Abducens Nerve; Disease; Eye; Face
PubMed: 13489158
DOI: 10.1136/bjo.41.12.731 -
International Journal of Pediatrics 2016Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this...
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. Poland's Syndrome was present in 17% and 30%. In addition to these findings, 27% of patients reported having difficulty with anesthesia, including difficulty in intubation and airway problems. Conclusion. An increased prevalence of scoliosis, clubfoot, transverse limb deficiencies, and Poland's Syndrome is identified in the setting of Mobius Syndrome. In the setting of several deformities often requiring surgical correction, a high incidence of anesthetic difficulty is noted and should be discussed with patients and other providers during surgical planning.
PubMed: 26977161
DOI: 10.1155/2016/9736723