Disease relevance of MBS1

• Features of this phenotype closely resemble the clinical signs associated with Bell's Palsy and Moebius Syndrome in humans [1].
• It must be distinguished from Duane's retraction syndrome, Moebius syndrome, nystagmus blockage syndrome, and early onset accommodative esotropia, as well as other causes of esotropia in infancy [2].
• Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome [3].
• Segmental facial myoclonus in moebius syndrome [4].
• These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the Prader-Willi syndrome and the Moebius syndrome [3].

Psychiatry related information on MBS1

• The Moebius syndrome: aetiology, incidence of mental retardation, and genetics [5].
• Cataplexy in association with Moebius syndrome [6].
• A comprehensive profile of communicative disorders in patients with Moebius syndrome was attempted [7].
• Fifty-nine cases with infantile autism/autistic disorder were subclassified according to associated medical condition (fragile-X, tuberous sclerosis, neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a 'new' syndrome associated with a marker chromosome) [8].
• CONCLUSIONS: Diagnosis of DRS in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital oculomotor apraxia, and congenital or infantile esotropia [9].

High impact information on MBS1

• The phenotype of hoxb-1 mutant homozygotes closely resembles features of the clinical profile associated with humans suffering from Bell's Palsy or Moebius Syndrome [10].
• Deletion of chromosome 13 in Moebius syndrome [11].
• Moebius syndrome in Kallmann syndrome [12].
• Moebius syndrome is characterized by sixth and seventh nerve palsy and is usually the result of bilateral hypoplasia or aplasia of the respective brain stem nuclei [4].
• The finding of olivary dysplasia in one case, reminiscent of olivary dysplasia in Zellweger syndrome and in Miller Dieker syndrome, might suggest a primary malformation underlying Moebius syndrome due to brain stem defects [13].

Chemical compound and disease context of MBS1

• We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation [14].
• They include Moebius syndrome, aglossia-adactylia syndrome, Hanhart syndrome, glossopalatine ankylosis syndrome, limb deficiency-splenogonadal fusion syndrome and Charlie M. syndrome [15].

Biological context of MBS1

• Editorial reply to "Comments on 'Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"': case observation vs. epidemiology studies [16].
• The expression pattern of WDR10 and its chromosomal location makes this novel gene a candidate gene for the hypogonadism associated with some forms of retinitis pigmentosa and the Moebius syndrome [17].
• An eight-year-old girl with bilateral facial paresis and restricted eye movements was diagnosed with Moebius syndrome [18].
• Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome [19].

Anatomical context of MBS1

• The Moebius syndrome consists of congenital seventh nerve palsy associated with other cranial nerve palsies, most often of the sixth, and/or musculoskeletal abnormalities [20].
• The mechanism is probably utero-placental insufficiency, and extrapolation from these two unusual cases would support utero-placental insufficiency as a cause of Moebius syndrome and limb deficiency after chorionic villus sampling [21].
• A patient with Moebius syndrome is reported, showing a 30-year follow-up after initial surgical treatment by bilateral partial transfers of the Masseter muscles [22].
• The case of a 3-year-old female is reported whose condition was diagnosed as congenital, complete paralysis of the right facial nerve in 1962; and a short time later more specifically described as Moebius syndrome [23].
• Speech and communication are major problems for children with Moebius syndrome, a congenital anomaly that includes facial and abducens nerve paralysis and, often, other cranial nerve deficits [24].

Other interactions of MBS1

• Successful strabismus surgery in a child with Moebius syndrome [25].
• The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation [26].

Analytical, diagnostic and therapeutic context of MBS1

• These cases likely represent a distinct clinicopathologic entity that should be considered in the differential diagnosis of Moebius syndrome and failure to breathe at birth [27].
• The effects of gracilis muscle transplantation on speech in children with Moebius syndrome [24].
• Moebius syndrome is characterized by congenital paralysis, usually bilateral, of the lateral rectus muscles and the muscles of facial expression [25].

References