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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 -
Anales de Pediatria (Barcelona, Spain :... Nov 2014Mobius syndrome is characterized by damage in the nucleus of the sixth and seventh cranial nerves, with subsequent facial palsy and abduction limitation of the eyes. The... (Observational Study)
Observational Study
INTRODUCTION
Mobius syndrome is characterized by damage in the nucleus of the sixth and seventh cranial nerves, with subsequent facial palsy and abduction limitation of the eyes. The aim of this article is to describe the ophthalmological findings of the Mobius syndrome in Mexican children.
PATIENTS AND METHODS
A cross-sectional, retrospective, observational and descriptive study was conducted. A review was made of the clinical charts of patients with Mobius syndrome who were seen in the National Institute of Pediatrics in Mexico, between the years 2000 and 2010.
RESULTS
A total of 64 charts were reviewed. The most important findings were eye abduction limitation (100%), facial palsy (100%), esotropia (54%), epicanthus (51.5%), entropion (22%), and history of use of abortion inducers in the mother in the first trimester of pregnancy (28%). We also found exotropia and hypertropia in some cases.
CONCLUSIONS
Mobius syndrome has a wide spectrum of ophthalmological manifestations that are important to detect early in order to improve function and esthetics.
Topics: Child; Child, Preschool; Cross-Sectional Studies; Eye Diseases; Female; Humans; Infant; Male; Mobius Syndrome; Retrospective Studies
PubMed: 24581746
DOI: 10.1016/j.anpedi.2013.10.023 -
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 -
The New England Journal of Medicine Jun 1998Patients with upper gastrointestinal ulceration may be treated with misoprostol, but it is not recommended for pregnant women because it may stimulate uterine...
BACKGROUND
Patients with upper gastrointestinal ulceration may be treated with misoprostol, but it is not recommended for pregnant women because it may stimulate uterine contractions and cause vaginal bleeding and miscarriage. Recent data from Brazil, where misoprostol is used orally and vaginally as an abortifacient, have suggested a relation between the use of misoprostol by women in an unsuccessful attempt to terminate pregnancy and Möbius' syndrome (congenital facial paralysis) in their infants.
METHODS
We compared the frequency of misoprostol use during the first trimester by mothers of infants in whom Möbius' syndrome was diagnosed and mothers of infants with neural-tube defects in Brazil. All diagnoses in infants were made between January 16, 1990, and May 31, 1996, by clinical geneticists at seven hospitals who also interviewed the mothers and recorded information about the administration of misoprostol, among other data.
RESULTS
We identified 96 infants with Möbius' syndrome and matched them with 96 infants with neural-tube defects. The mean age at the time of the diagnosis of Möbius' syndrome was 16 months (range, 0.5 to 78), and the diagnosis of neural-tube defects was made within 1 week of birth in most cases. Among the mothers of the 96 infants with Möbius' syndrome, 47 (49 percent) had used misoprostol in the first trimester of pregnancy, as compared with 3 (3 percent) of the mothers of the 96 infants with neural-tube defects (odds ratio, 29.7; 95 percent confidence interval, 11.6 to 76.0). Twenty of the mothers of the infants with Möbius' syndrome had taken misoprostol only orally (odds ratio, 38.8; 95 percent confidence interval, 9.5 to 159.4), 20 had taken misoprostol both orally and vaginally, 3 had taken the drug vaginally, and 4 did not report how they took the drug.
CONCLUSIONS
Attempted abortion with misoprostol is associated with an increased risk of Möbius' syndrome in infants.
Topics: Abortifacient Agents, Nonsteroidal; Abortion, Induced; Case-Control Studies; Facial Paralysis; Female; Humans; Infant; Infant, Newborn; Male; Misoprostol; Neural Tube Defects; Odds Ratio; Pregnancy; Pregnancy Trimester, First; Prenatal Exposure Delayed Effects; Teratogens
PubMed: 9637807
DOI: 10.1056/NEJM199806253382604 -
The British Journal of Ophthalmology Dec 1957
Topics: Abducens Nerve; Disease; Eye; Face
PubMed: 13489158
DOI: 10.1136/bjo.41.12.731 -
Korean Journal of Ophthalmology : KJO Jun 2017Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in... (Review)
Review
Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.
Topics: Abducens Nerve; Cranial Nerve Diseases; Duane Retraction Syndrome; Humans; Magnetic Resonance Imaging; Oculomotor Nerve; Trochlear Nerve
PubMed: 28534340
DOI: 10.3341/kjo.2017.0024 -
Nature Communications Jun 2015Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this...
Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Möbius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development: neural migration and DNA translesion synthesis, essential for the replication of endogenously damaged DNA, respectively. Interestingly, analysis of Plxnd1 and Rev3l mutant mice shows that disruption of these separate pathways converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation. The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients.
Topics: Animals; Cell Adhesion Molecules, Neuronal; DNA Damage; DNA-Binding Proteins; DNA-Directed DNA Polymerase; Exome; Heterozygote; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Mice; Mice, Mutant Strains; Mobius Syndrome; Mutation
PubMed: 26068067
DOI: 10.1038/ncomms8199 -
International Archives of... Jul 2014Introduction Möbius syndrome (MS; VI and VII palsy) is a rare disease that in Brazil has a great frequency because of the use of misoprostol during pregnancy....
Introduction Möbius syndrome (MS; VI and VII palsy) is a rare disease that in Brazil has a great frequency because of the use of misoprostol during pregnancy. Objective Verify if the speech and language performance of children with MS whose mothers reported use of misoprostol (Cytotec, Pfizer, Connecticut, USA) are different from the performance of children of mothers who did not report use. Methods The stomatognathic system beyond receptive and expressive language and speech was evaluated in children with MS, and their mothers were questioned whether they used misoprostol during the pregnancy. Results During the interview, 61.11% of mothers reported that they took misoprostol during the pregnancy. Most of the subjects (83.3%) whose mothers took misoprostol presented bilateral palsy beyond bad mobility of the tongue (90.9%) and speech disorders (63.6%). Conclusion The number of mothers who took misoprostol without knowing the risk for MS was great. The lack of facial expressions and speech disorders were common characteristics of the individuals with MS, whether the mothers took misoprostol during the pregnancy or not.
PubMed: 25992099
DOI: 10.1055/s-0033-1363466 -
BMJ Case Reports Dec 2018Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including...
Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case of Möbius syndrome associated with obesity and with precocious puberty. These features may be secondary to dysregulation of the hypothalamic-pituitary axis. We highlight the need to consider extraocular symptoms in these patients and for close liaison with physicians in their management.
Topics: Child; Diagnosis, Differential; Female; Humans; Hypothalamo-Hypophyseal System; Mobius Syndrome; Pediatric Obesity; Puberty, Precocious
PubMed: 30567196
DOI: 10.1136/bcr-2017-219590 -
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