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Journal of AAPOS : the Official... Apr 2020Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb....
Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb. Ophthalmic findings have been rarely reported and include congenital cataract, microphthalmia, optic nerve atrophy, coloboma, epibulbar dermoid, and dysinnervation patterns, such as Duane syndrome and gustatory lacrimation. We report a case of genetically confirmed TBS showing a spectrum of ocular anomalous innervations, including bilateral type 1 Duane syndrome and Möbius sequence, left-sided Marcus Gunn jaw winking, left eye gustatory lacrimation, and lack of emotional tearing bilaterally. Magnetic resonance imaging of brain and orbit showed absence of the abducens nerve bilaterally and of the left facial nerve.
Topics: Abnormalities, Multiple; Anus, Imperforate; Hearing Loss, Sensorineural; Humans; Thumb; Transcription Factors
PubMed: 31981611
DOI: 10.1016/j.jaapos.2019.12.004 -
Psychiatria Danubina Sep 2019Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face.
BACKGROUND
Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face.
SUBJECTS AND METHODS
Based on a literature review and a case discussion of an adult patient with Mobius syndrome and obsessive-compulsive disorder, initially undiagnosed and confused with a psychotic disorder, we will discuss the influence of Mobius syndrome in psychiatric evaluations.
RESULTS
The lack of facial expressiveness and non-verbal emotional interactions may influence psychiatric evaluations and result in misdiagnosis and the inappropriate prescribing of antipsychotics. In the case analysis, we also observed other associated malformations such as renal atrophy, a bicuspid aortic valve and mitral valve prolapse.
CONCLUSION
We feel that educating the patient about the communicative consequences of impaired facial expressions and facial interactions is a necessary prerequisite for any psychiatric or psychological evaluation in subjects with Mobius syndrome. We also recommend using caution when prescribing antipsychotics in patients with Mobius syndrome given the motor side effects secondary to a potentially pre-existing hypotonia.
Topics: Adult; Antipsychotic Agents; Diagnostic Errors; Facial Expression; Humans; Mobius Syndrome; Nonverbal Communication; Obsessive-Compulsive Disorder
PubMed: 31488755
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 -
Journal of Neuroimaging : Official... Jan 2023Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth)... (Review)
Review
BACKGROUND AND PURPOSE
Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth) and facial (VIIth) nerve palsy. Echoencephalography is the first, safe, noninvasive, and cost-effective imaging modality available at bedside. No study on the use of echoencephalography in neonates for the diagnosis of MBS has been previously reported.
METHODS
In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications of brainstem tegmental nuclei underwent additional imaging studies. Each neonate with MBS was carefully examined by the same investigator.
RESULTS
Five neonates were shown to have punctate, bilateral, symmetrical tegmental pontine calcifications through all three acoustic windows. These calcifications extended caudally in most patients, and rostrally in 2 patients. Brainstem hypoplasia was best seen through the posterior fontanelle. Three out of five infants were noted to have brainstem hypoplasia with straightening of the floor of the fourth ventricle. In two children, facial collicular bulges and hypoglossal eminences were present. All five infants fulfilled clinical diagnostic criteria of MBS. In addition, a wide array of cerebral defects is identified. Echoencephalographic findings were confirmed by other imaging modalities.
CONCLUSION
Knowledge of echoencephalographic features of MBS should improve its early recognition. A detailed description of the various imaging phenotypes of MBS is necessary to characterize the etiology of this heterogeneous congenital cranial dysinnervation disorder.
Topics: Humans; Mobius Syndrome; Congenital Cranial Dysinnervation Disorders; Brain Stem; Nervous System Malformations; Calcinosis; Echoencephalography
PubMed: 36349559
DOI: 10.1111/jon.13067 -
Hand (New York, N.Y.) Nov 2022Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature...
BACKGROUND
Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management.
METHODS
This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression.
RESULTS
Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures.
CONCLUSION
Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.
Topics: Infant, Newborn; Humans; Male; Child; Adolescent; Female; Mobius Syndrome; Poland Syndrome; Retrospective Studies; Prevalence; Cross-Sectional Studies; Hand Deformities
PubMed: 33641474
DOI: 10.1177/1558944721994265 -
Clinical Imaging Mar 2021We aim to review the imaging features of congenital cranial dysinnervation disorders. Characteristic imaging findings can define subtypes of these disorders through... (Review)
Review
We aim to review the imaging features of congenital cranial dysinnervation disorders. Characteristic imaging findings can define subtypes of these disorders through assessment of cranial nerves, extraocular muscles, orbital, and brain abnormalities. Duane retraction syndrome shows absent or hypoplasic 6th cranial nerve and preserved extraocular muscles (EOM). Mobius syndrome shows absent 7th and 6th cranial nerves, absence of facial colliculus, flattening of the dorsal aspect of the pons, hypoplasia of the pons and medulla, and flattening of the 4th ventricular floor. Congenital fibrosis of the extraocular muscles reveals unilateral or bilateral hypoplasia or aplasia of the 3rd cranial nerve, atrophy of superior rectus and levator palpebrae superioris muscles, and atrophy of the brainstem and cerebellar hemispheres. Horizontal gaze palsy and progressive scoliosis show characteristic split pons sign, butterfly medulla, absent facial colliculi, and spinal scoliosis. HOXA1 Mutations show a bilateral absence of 6th cranial nerves with the underdeveloped inner ear. Pontine Cap Tegmental Dysplasia shows ventral pontine hypoplasia, dorsal tegmental projection into the 4th ventricle, and variable cranial nerve deficits.
Topics: Cranial Nerves; Duane Retraction Syndrome; Humans; Magnetic Resonance Imaging; Oculomotor Muscles; Radiologists
PubMed: 33189029
DOI: 10.1016/j.clinimag.2020.10.055 -
[Zhonghua Yan Ke Za Zhi] Chinese... Jun 2022To analyze the clinical characteristics of patients with Möbius syndrome (MBS) and to explore likely pathogenic genes. Cross-sectional study. The study enrolled 18...
To analyze the clinical characteristics of patients with Möbius syndrome (MBS) and to explore likely pathogenic genes. Cross-sectional study. The study enrolled 18 sporadic MBS patients who visited the Eye Center of Beijing Tongren Hospital Affiliated to Capital Medical University from July 2018 to December 2021. All patients completed the general information questionnaire and underwent detailed ophthalmic examinations and general physical examinations. Seventeen patients received MRI examination of cranial nerves and the orbit. The peripheral venous blood of all patients and their nuclear family members was collected, the genomic DNA was extracted, and the pathogenic gene variations that may lead to MBS were identified by whole exome sequencing and bioinformatics analysis. Among the 18 patients, there were 8 males and 10 females, and the age was (4.5±4.0) years (range, 8 months to 17 years). All patients showed congenital, bilateral or unilateral abduction deficit and facial weakness, which met the minimum diagnostic criteria of MBS. Among them, bilateral abduction deficit (16/18) and bilateral facial weakness (15/18) were more common. Nine patients were orthotopic in primary position, eight presented with esotropia, and one showed hypotropia. All patients had ametropia, of which 4 patients were diagnosed as amblyopia. Fifteen patients were also accompanied by other multiple congenital malformations, mainly characterized by abnormal development of glossopharynx (14/18) and limbs (5/18), and 7 patients were also accompanied by motor retardation. In addition, 9 patients had intrauterine exposure to adverse factors. Among the 17 patients who underwent MRI, 15 patients had bilateral hypoplasia of the abducens nerve, two had unilateral hypoplasia of the abducens nerve, 14 showed bilateral hypoplasia of the facial nerve, and three showed hypoplasia of the left facial nerve. Besides, some patients were also accompanied by hypoplasia of other cranial nerves, mainly the glossopharyngeal nerve and the hypoglossal nerve. No definite pathogenic variations were found by whole exome sequencing and bioinformatics analysis. The main clinical features of MBS were congenital abduction deficit and facial weakness, with complicated manifestations and variable severity. MRI showed absence or thinning of the abducens nerve and the facial nerve. The results of MRI can be used as a supplement to the diagnostic criteria of MBS. The mutation detection rate of MBS was low, and half of patients had exposure to adverse factors during pregnancy, suggesting that there was a multifactorial pathogenic mechanism in MBS.
Topics: Cross-Sectional Studies; Facial Paralysis; Female; Humans; Infant; Male; Mobius Syndrome; Strabismus; Exome Sequencing
PubMed: 35692026
DOI: 10.3760/cma.j.cn112142-20220314-00108 -
Nursing Apr 2015
Topics: Adaptation, Psychological; Adolescent; Adult; Child; Humans; Mobius Syndrome; Nurse-Patient Relations; Parents; Personal Satisfaction; Professional-Family Relations; Referral and Consultation; Stress, Psychological
PubMed: 25785409
DOI: 10.1097/01.NURSE.0000462183.23858.ab -
Orphanet Journal of Rare Diseases Dec 2022Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic...
BACKGROUND
Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients.
RESULTS
A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations. Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patients and 15 patients from 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES was performed in 122 CCDDs patients. Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM) and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes.
CONCLUSIONS
This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.
Topics: Humans; Congenital Cranial Dysinnervation Disorders; East Asian People; Duane Retraction Syndrome; Mobius Syndrome; Ophthalmoplegia; Fibrosis
PubMed: 36494820
DOI: 10.1186/s13023-022-02582-5 -
International Journal of Pediatric... Apr 2020Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current...
OBJECTIVES
Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes.
METHODS
A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital.
RESULTS
4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases.
CONCLUSION
This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.
Topics: 22q11 Deletion Syndrome; Adolescent; Arthritis; Arthrogryposis; Child; Child, Preschool; Chromosome Disorders; Cleft Palate; Clubfoot; Connective Tissue Diseases; De Lange Syndrome; Duane Retraction Syndrome; Female; Hand Deformities, Congenital; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Hypoventilation; Infant; Infant, Newborn; Intellectual Disability; Male; Mandibulofacial Dysostosis; Mobius Syndrome; Muscle Hypotonia; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies; Sleep Apnea, Central
PubMed: 31927149
DOI: 10.1016/j.ijporl.2019.109842