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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 -
Journal of Neurosciences in Rural... 2016
PubMed: 27695248
DOI: 10.4103/0976-3147.186974 -
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 -
Graefe's Archive For Clinical and... Nov 2018Möbius 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
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.
METHODS
We retrospectively reviewed the medical records and MR imagings of nine patients with Möbius syndrome between January 2004 and October 2015. The presence/absence of abducens and facial nerves on MR imaging, as well as corresponding neuro-ophthalmologic clinical features, was investigated.
RESULTS
Facial palsy was bilateral in six and unilateral in three patients. Abduction was limited bilaterally in five and unilaterally in four patients. The degrees of facial palsy and abduction limitation were variable, and asymmetric even in the bilateral cases. MR imaging documented bilateral absence of the abducens and facial nerves in six, absence of unilateral facial nerve and bilateral abducens nerves in one, and absence of facial and abducens nerves unilaterally on the same side in another. Both abducens and facial nerves were visualized bilaterally only in the one remaining patient.
CONCLUSIONS
The absence of abducens and facial nerves on MR imaging was mostly correlated with the findings of facial palsy and abduction limitation in patients with Möbius syndrome. MR imaging aids in diagnosis of Möbius syndrome by documenting the absence or presence of abducens and facial nerves.
Topics: Abducens Nerve; Abducens Nerve Diseases; Adult; Child; Facial Nerve; Facial Paralysis; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Mobius Syndrome; Retrospective Studies
PubMed: 30069750
DOI: 10.1007/s00417-018-4089-3 -
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 -
Journal of Pediatric Orthopedics 2017Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies,...
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.
Topics: Adolescent; Arthrogryposis; Child; Child, Preschool; Clubfoot; Female; Hip Dislocation, Congenital; Humans; Infant; Infant, Newborn; Male; Mobius Syndrome; Poland Syndrome; Retrospective Studies; Scoliosis; Splints; Time Factors; Treatment Outcome
PubMed: 28538051
DOI: 10.1097/BPO.0000000000001009 -
Radiology Case Reports Apr 2020Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence...
Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. The imaging findings here serve as a useful guide for the radiologist and ordering providers by reinforcing the need for dedicated cranial nerve imaging in patients who have deficiencies in anterior chest wall musculature.
PubMed: 32055264
DOI: 10.1016/j.radcr.2020.01.002 -
Journal of the American Dental... Feb 1999
Topics: Child, Preschool; Deglutition Disorders; Dental Care for Disabled; Facial Paralysis; Female; Humans; Mouth Diseases
PubMed: 10036834
DOI: 10.14219/jada.archive.1999.0144 -
Ophthalmic Genetics Jun 2018Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb,...
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.
Topics: Genetic Testing; Heart Neoplasms; Humans; Infant, Newborn; Male; Mobius Syndrome; Rhabdomyoma
PubMed: 29336632
DOI: 10.1080/13816810.2017.1423336