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Neurology and neurosurgery
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
12.31. Which of the following have more than a chance association with ventriculo-peritoneal (VP) shunts?Moebius syndrome.Subdural haematoma.Pulmonary hypertension.School failure.Staphyloccus albus bacteraemia.
Epidemiology of clubfoot
Published in R. L. Mittal, Clubfoot, 2018
Bosch-Banyeras et al.102 also reported association of Poland syndrome with Moebius syndrome, the combined features including clubfoot. The Poland–Moebius syndrome is a distinct entity with unknown etiology.
Facial Paralysis in Children
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Moebius syndrome is a rare cause of facial paralysis in neonates. It is characterized by the absence or underdevelopment of the sixth and seventh cranial nerves. It may be unilateral or bilateral. Agenesis of the facial nucleus is suspected, hence the sixth nerve involvement. Other cranial nerves may also be involved. Autism and mental retardation may be seen in a third of these patients.5
Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy
Published in Disability and Rehabilitation, 2023
W. A. van de Geest-Buit, N. B. Rasing, K. Mul, J. C. W. Deenen, S. C. C. Vincenten, I. Siemann, A. Lanser, J. T. Groothuis, B. G. van Engelen, J. A. E. Custers, N. C. Voermans
Based on research in Moebius syndrome, we propose that the first step to improve the psychosocial outcomes in FSHD patients is to acknowledge and recognize the consequences of facial weakness and reduced facial function by both the patient and the clinician [15,48]. This is supported by our recent qualitative study [27]. Next, a multidisciplinary approach to diminish the negative effects of facial dysfunction, pain, fatigue, and walking difficulties is recommended. It is assumed this could be especially helpful for patients more prone to negative psychosocial outcomes, such as patients with more facial dysfunction, more pain, fatigue, and walking difficulty, younger patients and patients who had had current or previous psychological support. Therapy should focus on coping with the physical, emotional, and social consequences of FSHD, and social skills to handle reactions of others. Speech therapy might improve facial function, similarly as in Parkinson’s disease [49]. The applicability of muscle transplantation in FSHD has not yet been assessed [50,51]. Patients can be informed that, with aging, the impact of social consequences of facial dysfunction are likely to reduce. Finally, there is a role for the community to fully accept patients who look or act different and to broaden the norms, for instance by educational programs at schools [52]. Patients may use other strategies to express themselves, compensate with gestures and variations in the tones of their voice, and help others by being open about their disease [15].
Long-term outcomes of strabismus surgery in Mobius sequence
Published in Strabismus, 2019
The diagnosis of Mobius syndrome was made by geneticists. All patients underwent complete ophthalmic evaluations prior to surgery and regularly during the follow-up period. These included assessment of visual acuity, ocular motility, strabismus measurements with alternate cover testing at distance and near, cycloplegic refraction, and examination of the ocular adnexa, anterior segment, and posterior segment. Forced ductions were performed at the time of surgery. Surgery was performed through inferonasal fornix incisions, with the release of the restricted muscles and direct reattachment to the sclera with absorbable sutures. Bilateral medial rectus muscle recessions were performed in all patients, ranging from 4.0 to 6.5 mm. Inferior transposition of the medial rectus muscles was performed in two patients for treatment of V-pattern, and two patients also had surgery for vertical strabismus. Surgery was considered successful if the horizontal alignment was less than 8 prism diopters (PD).
Möbius syndrome with cardiac rhabdomyomas
Published in Ophthalmic Genetics, 2018
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
Möbius syndrome, according to the Möbius Syndrome Foundation Research Conference in 2007, is described as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Associated features may include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems. The most common associated features include limb malformations and orofacial dysmorphism (1,2). In rare cases, Möbius syndrome is reported associated with Poland syndrome (3,4), peripheral neuropathy (5), hypogonadotropic hypogonadism (5), and neurofibromatosis (6). We report the case of a newborn followed from birth to 18 months of age. He was born with multiple craniofacial abnormalities and cranial nerve palsies consistent with a clinical diagnosis of Möbius syndrome. On further workup, he was found to have cardiac rhabdomyomas. Microarray analysis revealed a segmental loss at 21q21.2. Genetic testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2.