"Moebius syndrome"

Impact of Adding Augmented Superior Rectus Transpositions to Medial Rectus Muscle Recessions When Treating Esotropic Moebius Syndrome. To describe outcomes after treatment of Moebius syndrome (MBS) esotropia by adjustable bilateral medial rectus recession (BMR) with and without augmented superior rectus transposition (SRT). Retrospective case series. Patients meeting 2014 diagnostic criteria

Difficult intubation and postoperative aspiration pneumonia associated with Moebius syndrome: a case report. Moebius syndrome is a rare congenital disorder characterized by non-progressive palsy of the abducens (VI) and facial (VII) cranial nerves. Its common features include dysfunctions associated with other cranial nerves, orofacial abnormalities, skeletal muscle hypotonia, and other systemic disorders of differing severities. There are several concerns in the perioperative management of patients with Moebius syndrome. We present a report on the management of general anesthesia of a 14-year-old male patient with Moebius syndrome who was scheduled for mandibular cystectomy. The patient was diagnosed with Moebius syndrome at the age of 7 years based on his clinical manifestations of nerve palsy

Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia Moebius syndrome is a rare cause of congenital facial and abducens palsy.It is sometimes associated with musculoskeletal abnormalities and other cranial nerve palsies. Genetics and ischemic insults to the fetus are considered to be the cause of this syndrome. We report here a 12-year-old female astigmatism in her eyes. She did not report diplopia in any gaze position. Examination of her cranial nerve revealed left facial, abducens, and hypoglossal nerve palsy, leading us to the diagnosis of Moebius syndrome. Apart from that, she had syndactyly in one of her hands, and brachydactyly in both. Since the eyes were straight in their primary position, no surgical intervention was carried out for her

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.Trp284Ser variant in STAC3 in both sisters. The second proband and his affected sister are from a non-consanguineous, Puerto Rican family who was evaluated for a possible diagnosis of Moebius syndrome (MBS). His features included facial and generalized weakness

Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome The authors report a combined orthodontic-surgical correction of an adult patient's malocclusion affected by Moebius Syndrome (MS). The treatment was conducted at the Dentistry Unit and the Maxillofacial Surgery Unit of the University Hospital of Parma. Treatment of malocclusion was performed after the correction of facial mimic

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown. In a cohort study of nine individuals suspected to have Moebius syndrome (six typical, three atypical), we

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye. Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown

Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome. Moebius Syndrome is a rare congenital neurological condition often characterized by multiple cranial nerve involvement. This case study presents an eight-year old girl with Moebius Syndrome (MC) who received 30 sessions of speech therapy. This occurred after presenting to clinic 11 months of 30 one-hour speech therapy sessions, substantial improvements were seen in speech sound accuracy, overall intelligibility, facial movement and saliva control. The combination of surgery and speech therapy led to functional gains that surgery alone did not achieve. The impact of speech therapy on surgical outcomes in individuals with Moebius syndrome deserves further investigation.

Moebius syndrome: clinical features, diagnosis, management and early intervention 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

Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome A 2-year-old male with Poland-Moebius syndrome was transferred from a local hospital to the Pediatric ICU at Children's Hospital of Georgia for suspected postobstructive pulmonary edema (POPE) after tonsillectomy/adenoidectomy (T&A). The patient's respiratory status ultimately

Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome. To improve diagnostic assessment in Moebius syndrome by (1) creating more selective diagnostic subgroups and (2) conducting genetic evaluation in a large patient cohort. Prospective, observational study. Attendees of 3 consecutive Moebius syndrome conferences held in the United States, with a prior diagnosis of Moebius syndrome, were invited to participate. Participants underwent standardized ophthalmologic examination for Moebius syndrome minimum diagnostic criteria (MDC) (congenital, nonprogressive facial palsy, and abduction deficit) and genetic testing for HOXA1, HOXB1, and TUBB3 mutations. The number of patients meeting MDC and the number of patients with confirmed genetic mutation. A total

Mirror Movements Identified in Patients with Moebius Syndrome Moebius syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius syndrome. We present three patients who meet minimum criteria for a diagnosis of Moebius syndrome and who also display mirror movements. This case series suggests that Moebius syndrome may be associated with mirror movements. Further investigation to delineate the genetic etiologies of Moebius syndrome is ongoing. Patients with Moebius syndrome and mirror movements may represent a specific subclass of this disorder.

outcome for adults with idiopathic facial palsy (Bell’s palsy)87,88 as well as children89. Blink reflex is abnormal in children with Moebius syndrome and other disorders of brainstem dysgenesis, a finding that can aid in the diagnosis of these conditions90,91. For infants with facial or bulbar dysfunction and concern regarding potential feeding difficulty, simultaneous needle EMG of the genioglossus

of facial expressions may affect emotion processing. The present study assessed a sample ( = 11) of Moebius syndrome (MBS) patients and a matched control group ( = 33), using a highly sensitive emotion recognition task. Leveraging the uniqueness of MBS, which is characterized by congenital facial paralysis, the role of facial mimicry and sensorimotor simulation in creating precise embodied concepts

. 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

in non- anesthesia- induced myopathies. Mol. Genet. Metab. 104, 167–173 (2011). 32. Telegrafi, A. et al. Identification of STAC3 variants in non- Native American families with overlapping features of Carey- Fineman- Ziter syndrome and Moebius syndrome. Am. J. Med. Genet. A 173, 2763–2771 (2017). 33. Grzybowski, M., Schanzer, A., Pepler, A., Heller, C., Neubauer, B.A. & Hahn, A. Novel STAC3 mutations

-suture technique): 3 for esotropic Duane syndrome, 2 for abducens nerve palsy, 1 for Moebius syndrome, and 2 for combined trochlear and abducens nerve palsies. Of the 8 patients, 4 had prior strabismus surgery, and 1 patient had previously undergone treatment with botulinum toxin. Severing one augmentation suture in 3 cases resolved vertical (n = 2) or torsional (n = 1) diplopia and consecutive

development are very common. The incidence of autistic spectrum disorders is 30% in patients with Moebius sequence.[3]Neurological sequelaeHypotonia, pharyngeal weakness, feeding difficulties.Respiratory difficulties in infancy.Delayed developmental milestones.RecognitionBecause early recognition of Moebius syndrome can lead to early diagnosis and treatment, education of nurses in perinatal, paediatric benefits in individual cases, in that surgery, nerve and muscle transfers to the corners of the mouth have been performed to provide an ability to smile.PrognosisChildren may crawl and walk later. Most children with Moebius Syndrome eventually catch up.Speech problems often respond to therapy, but may persist due to impaired mobility of the tongue and/or mouth.As children get older, the lack of facial

features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated. New diagnostic tools are available

hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome. We report the case of a boy with an unusual incomitant strabismus consistent with orbital dysinnervation and suggest that for some patients with congenital mirror