Genomes and Genes
Summary: A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
- Webb B, Shaaban S, Gaspar H, Cunha L, Schubert C, Hao K, et al. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012;91:171-9 pubmed publisher..Molecular modeling and an in vitro DNA-protein binding assay predict that the mutation would disrupt these interactions, destabilize the HOXB1:PBX1:DNA complex, and alter HOXB1 transcriptional activity. ..
- Anderson K, Shneerson J, Smith I. Möbius syndrome in association with the REM sleep behaviour disorder. J Neurol Neurosurg Psychiatry. 2007;78:659-60 pubmed
- López de Lara D, Cruz Rojo J, Sanchez del Pozo J, Gallego Gómez M, Lledó Valera G. Moebius-Poland syndrome and hypogonadotropic hypogonadism. Eur J Pediatr. 2008;167:353-4 pubmed
- Al Kaissi A, Grill F, Safi H, Ben Ghachem M, Ben Chehida F, Klaushofer K. Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome. Orphanet J Rare Dis. 2007;2:2 pubmed..To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome. ..
- Bae Y, Zuker R, Manktelow R, Wade S. A comparison of commissure excursion following gracilis muscle transplantation for facial paralysis using a cross-face nerve graft versus the motor nerve to the masseter nerve. Plast Reconstr Surg. 2006;117:2407-13 pubmed
- Ferrari P, Barbot A, Bianchi B, Ferri A, Garofalo G, Bruno N, et al. A proposal for new neurorehabilitative intervention on Moebius Syndrome patients after 'smile surgery'. Proof of concept based on mirror neuron system properties and hand-mouth synergistic activity. Neurosci Biobehav Rev. 2017;76:111-122 pubmed publisher..Preliminary results show that our intervention protocol is a promising approach for neurorehabilitation of patients with facial palsy. ..
- Carta A, Mora P, Neri A, Favilla S, Sadun A. Ophthalmologic and systemic features in möbius syndrome an italian case series. Ophthalmology. 2011;118:1518-23 pubmed publisher..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
- Verzijl H, Valk J, de Vries R, Padberg G. Radiologic evidence for absence of the facial nerve in Möbius syndrome. Neurology. 2005;64:849-55 pubmed..Radiologic findings support the notion that Möbius syndrome is part of a more complex congenital anomaly of the fossa posterior. ..
- Vauzelle C, Beghin D, Cournot M, Elefant E. Birth defects after exposure to misoprostol in the first trimester of pregnancy: prospective follow-up study. Reprod Toxicol. 2013;36:98-103 pubmed publisher..Brainstem injuries including severe trismus might be added to this specific pattern. ..
- Verzijl H, Padberg G, Zwarts M. Electrophysiological assessment in patients with Möbius syndrome and clumsiness. J Clin Neurophysiol. 2005;22:422-5 pubmed..The electrophysiologic data indicate that the traversing motor and sensory tracts through the brainstem, and the peripheral nerves are not affected in Möbius syndrome. ..
- Vlăduţiu C, Duma I. [Mobius syndrome]. Oftalmologia. 2012;56:66-70 pubmed..The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation. ..
- Bogart K, Matsumoto D. Living with Moebius syndrome: adjustment, social competence, and satisfaction with life. Cleft Palate Craniofac J. 2010;47:134-42 pubmed publisher..To enhance interaction, people with Moebius syndrome could compensate for the lack of facial expression with alternative expressive channels. ..
- Marre D, Hontanilla B. Brain plasticity in Möbius syndrome after unilateral muscle transfer: case report and review of the literature. Ann Plast Surg. 2012;68:97-100 pubmed publisher..Brain plasticity is likely to play an important role in smile restoration in patients with bilateral facial palsy. Intensive physiotherapy and psychosocial relevance of facial expression might be key in such phenomenon. ..
- Johansson M, Wentz E, Fernell E, Strömland K, Miller M, Gillberg C. Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals. Dev Med Child Neurol. 2001;43:338-45 pubmed..Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage. ..
- Ventura B, Miller M, Danda D, Carta A, Brandt C, Ventura L. Profile of ocular and systemic characteristics in Möbius sequence patients from Brazil and Italy. Arq Bras Oftalmol. 2012;75:202-6 pubmed..A history of misoprostol use during early pregnancy was present only in Brazilian mothers, who had lower levels of education and less frequent stable marital statuses. Clinical findings were similar between both groups of patients. ..
- Hillerer C, Wöller A, Mühlau M, Stimmer H, Zimmer C. [Neuroradiologic findings in Möbius syndrome]. Rofo. 2007;179:532-4 pubmed
- Pedraza S, Gamez J, Rovira A, Zamora A, Grive E, Raguer N, et al. MRI findings in Möbius syndrome: correlation with clinical features. Neurology. 2000;55:1058-60 pubmed..These MRI features suggest the diagnosis of Möbius syndrome and correlate with the clinical and neurophysiologic findings. ..
- Marques Dias M, Gonzalez C, Rosemberg S. Möbius sequence in children exposed in utero to misoprostol: neuropathological study of three cases. Birth Defects Res A Clin Mol Teratol. 2003;67:1002-7 pubmed..These cases add further evidence of the role of misoprostol as a teratogen. ..
- Holve S, Friedman B, Hoyme H, Tarby T, Johnstone S, Erickson R, et al. Athabascan brainstem dysgenesis syndrome. Am J Med Genet A. 2003;120A:169-73 pubmed..Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc. ..
- Eppley B, Zuker R. Salvage of facial reanimation with vascularized adductor magnus muscle flap: clinical experience and anatomical studies. Plast Reconstr Surg. 2002;110:1693-6 pubmed
- Yeh P, Kipp M. A case of Moebius syndrome in association with Klinefelter syndrome. Ophthalmic Genet. 2002;23:185-9 pubmed..We report the first clinical case of a patient with Klinefelter syndrome who was also affected by Moebius syndrome. Although clinically intriguing, coexistence of the two syndromes most likely represents a chance occurrence. ..
- Bianchi B, Ferri A, Brevi B, Di Blasio A, Copelli C, Di Blasio C, et al. Orthognathic surgery for the complete rehabilitation of Moebius patients: principles, timing and our experience. J Craniomaxillofac Surg. 2013;41:e1-4 pubmed publisher..Finally, facial animation should precede orthognathic surgery in adult patients to prevent lower lip deformities and to ensure more predictable and satisfactory results. ..
- Briegel W, Schimek M, Kamp Becker I, Hofmann C, Schwab K. Autism spectrum disorders in children and adolescents with Moebius sequence. Eur Child Adolesc Psychiatry. 2009;18:515-9 pubmed publisher..ASDs might be not as frequent as reported in previous studies on patients with Moebius sequence, at least not in patients without mental retardation. ..
- Abbas R, Qureshi A, Ahmad T, Butt T. A neonate with Poland-Mobius syndrome. J Coll Physicians Surg Pak. 2011;21:640-1 pubmed publisherPoland-Mobius syndrome is a combination of two rare congenital syndromes characterized by congenital facial weakness, loss of abduction of eyes, limb defects, and absence or hypoplasia of the pectoral muscles...
- Cattaneo L, Chierici E, Bianchi B, Sesenna E, Pavesi G. The localization of facial motor impairment in sporadic Möbius syndrome. Neurology. 2006;66:1907-12 pubmed..Two different neurophysiologically defined phenotypes can be distinguished in sporadic Möbius syndrome, with different pathogenetic implications. ..
- Verzijl H, Van Der Zwaag B, Lammens M, ten Donkelaar H, Padberg G. The neuropathology of hereditary congenital facial palsy vs Möbius syndrome. Neurology. 2005;64:649-53 pubmed..Neuropathologic findings confirm clinical observations that hereditary congenital facial palsy and Möbius syndrome are two different entities with a different pathogenesis. ..
- Toolens A, Cruysberg J. [Crying upon eating: the crocodile-tears syndrome]. Ned Tijdschr Geneeskd. 2005;149:554; author reply 554-5 pubmed
- Felice K, Jones J, Conway S. Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family. Muscle Nerve. 2005;32:368-72 pubmed..In difficult cases, facial muscle electromyography may help to differentiate myopathic from neuropathic weakness, and help guide further diagnostic studies. ..
- Ventura L, da Cruz C, de Almeida H, Millar M, Lira A, Antunes D. [Möbius sequence: long-term strabismus surgical outcome]. Arq Bras Oftalmol. 2007;70:195-9 pubmed..The surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction, making the social inclusion easier. ..
- Rucker J, Webb B, Frempong T, Gaspar H, Naidich T, Jabs E. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. Brain. 2014;137:1068-79 pubmed publisher..Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders. ..
- Kersey J, Vivian A, Reid E. A report of paracentric inversion of chromosome 8 in Moebius syndrome. Ophthalmic Genet. 2006;27:29-31 pubmed..We discuss the genes which are known to have associated ocular movement dysfunction in the 8q21-24 region. We hope this case will add to the current body of knowledge regarding Moebius syndrome and its genetics. ..
- Miller M, Strömland K, Ventura L. Congenital aberrant tearing: a re-look. Trans Am Ophthalmol Soc. 2008;106:100-15; discussion 115-6 pubmed..Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo. ..
- Miller M, Strömland K, Ventura L, Johansson M, Bandim J, Gillberg C. Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. Int J Dev Neurosci. 2005;23:201-19 pubmed..Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis. ..
- Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, et al. Mobius sequence--a Swedish multidiscipline study. Eur J Paediatr Neurol. 2002;6:35-45 pubmed..Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children...
- Di Blasio A, Cassi D, Di Blasio C, Gandolfini M. Temporomandibular joint dysfunction in Moebius syndrome. Eur J Paediatr Dent. 2013;14:295-8 pubmed..No difference was found between A and B Moebius sub-samples. The authors stress the importance of an early adequate rehabilitation of Moebius patients, in order to avoid the limitation of TMJ movement range. ..
- Amer T. A single hypoglossal nerve for bilateral smile reconstruction in Möbius syndrome. J Craniofac Surg. 2010;21:1926-7 pubmed publisher..The author concludes that despite the limitation of the study, the hypoglossal nerve is a good nerve source to supply both free flaps for smile reconstruction in Möbius syndrome. ..
- Briegel W, Schimek M, Kamp Becker I. Moebius sequence and autism spectrum disorders--less frequently associated than formerly thought. Res Dev Disabil. 2010;31:1462-6 pubmed publisher..Therefore, ASDs seem to be not as frequent as reported in previous studies on patients with Möbius sequence. ..
- Teitelbaum O, Benton T, Shah P, Prince A, Kelly J, Teitelbaum P. Eshkol-Wachman movement notation in diagnosis: the early detection of Asperger's syndrome. Proc Natl Acad Sci U S A. 2004;101:11909-14 pubmed..This phenomenon appears to apply to AS as well. Based on preliminary results, a simple test using one such reflex is proposed for the early detection of a subgroup of children with AS or autism. ..
- Fons Estupiñá M, Poo P, Colomer J, Campistol J. [Moebius sequence: clinico-radiological findings]. Rev Neurol. 2007;44:583-8 pubmed
- Rose E. Autogenous fascia lata grafts: clinical applications in reanimation of the totally or partially paralyzed face. Plast Reconstr Surg. 2005;116:20-32; discussion 33-5 pubmed
- Bagheri A, Naghibozakerin J, Yazdani S. Cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with meningoencephalocele. Eur J Ophthalmol. 2005;15:500-3 pubmedTo report a rare case of cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with Mobius syndrome and meningoencephalocele and to explain our experience in the management of this complication.
- Sensat M. Mobius syndrome: a dental hygiene case study and review of the literature. Int J Dent Hyg. 2003;1:62-7 pubmedb>Mobius syndrome, a rare, non-progressive, congenital neuromuscular disorder, presents with multiple dental and medical complications...
- Pirmez R, Freitas M, Gasparetto E, Araújo A. Moebius syndrome and holoprosencephaly following exposure to misoprostol. Pediatr Neurol. 2010;43:371-3 pubmed publisher..To our knowledge, this is the first published case report describing this association. The etiologic hypotheses of Moebius syndrome are also discussed. ..
- Steinberg H. [On the 150th birthday of Paul Julius Möbius (1853-1907)]. Nervenarzt. 2004;75:97-100 pubmed..As a result of it's repeated republication he was accused to be hating women and his major contributions towards the progress of the neurosciences have been neglected. ..
- Bianchi B, Copelli C, Ferrari S, Ferri A, Sesenna E. Facial animation in patients with Moebius and Moebius-like syndromes. Int J Oral Maxillofac Surg. 2010;39:1066-73 pubmed publisher..In conclusion, according to the literature, the gracilis muscle free transfer can be considered a safe and reliable technique for facial reanimation with good aesthetic and functional results. ..
- Ruda J, Krakovitz P, Rose A. A review of the evaluation and management of velopharyngeal insufficiency in children. Otolaryngol Clin North Am. 2012;45:653-69, viii pubmed publisher..Management of VPI involves initial speech therapy followed by operative repair with sphincter or pharyngeal flap pharyngoplasty, if needed. ..
- Aydin A, Ayata A, Sabahyildizi M, Ersanli D. [Poland-Möbius syndrome associated with lacrimal punctal and canalicular agenesis]. J Fr Ophtalmol. 2010;33:119.e1-5 pubmed publisher..Several abnormalities in association with this syndrome have been published. However, punctal and canalicular agenesis is not among these reported abnormalities. ..
- Kadakia S, Helman S, Schwedhelm T, Saman M, Azizzadeh B. Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome. Oral Maxillofac Surg. 2015;19:109-16 pubmed publisher..Our study codified nascent findings of the molecular determinants of MBS. These findings add to a growing database of MBS-associated mutations and can be used to diagnose MBS and clarify pathogenesis. ..
- Suvarna J, Bagnawar M, Deshmukh C. Moebius syndrome with total anomalous pulmonary venous connection. Indian J Pediatr. 2006;73:427-9 pubmed..We present a case of Moebius syndrome with supracardiac total anomalous pulmonary venous connection which has not yet been reported in literature. ..
- Traboulsi E. Congenital cranial dysinnervation disorders and more. J AAPOS. 2007;11:215-7 pubmed
- Schröder J, Läßig A, Galetzka D, Peters A, Castle J, Diederich S, et al. A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. Behav Brain Funct. 2013;9:7 pubmed publisher..We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII. ..