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Results for “Mobius Syndrome”

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PubMed1976

Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.

We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and, particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes. These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart-syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Mobius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Mobius syndrome: we suggest this term to refer to those cases of "Mobius syndrome" which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the "Mobius syndrome," and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Mobius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion. Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Mobius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather than a "syndrome." This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e...

Abducens Nerve↗
PubMed2000

SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome.

Members of the SOX gene family encode proteins with homology to the HMG box DNA-binding domain of SRY, the Y-linked testis-determining gene. SOX genes are expressed during embryogenesis and are involved in the development of a wide range of different tissues. Mutations in SRY, SOX9 and SOX10 have been shown to be responsible for XY sex reversal, campomelic dysplasia and Waardenburg-Hirschsprung disease, respectively. It is likely that mutations in other SOX genes are responsible for a variety of human genetic diseases. SOX14 has been identified from a human genomic library and the mouse and chicken sequences obtained by polymerase chain reaction amplification. The SOX14 amino acid sequence is highly conserved across these species, suggesting an important role for this protein in vertebrate development. SOX14 is expressed in the neural tube and apical ectodermal ridge of the developing chicken limb. This is the only SOX gene known to be expressed in the apical ectodermal ridge, a structure that directs outgrowth of the embryonic limb bud. Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and Mobius syndrome. Although SOX14 maps outside these loci, its expression pattern and chromosomal localisation suggest that it is a candidate gene for the limb defects frequently associated with these syndromes.

Amino Acid Sequence↗
PubMedDate not supplied

Cerebrospinal fluid leakage during dacryocystorhinostomy in a patient with meningoencephalocele.

PURPOSE: To 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. METHODS: A 9-year-old girl with a history of surgically repaired fronto-ethmoidal meningoencephalocele and bilateral canthopexy was diagnosed with Mobius syndrome and underwent sequential bilateral dacryocystorhinostomy and silicone intubation because of dysgenesis of the lacrimal drainage pathway. RESULTS: Both dacryocystorhinostomies resulted in cerebrospinal fluid leakage, which spontaneously ceased with conservative management. CONCLUSIONS: Dacryocystorhinostomy surgery in patients with a history of trauma or surgery or congenital defects around the base of the nose or lacrimal system may rarely result in cerebrospinal fluid leakage; thus an ophthalmologist should be familiar with its management.

Cerebrospinal Fluid Rhinorrhea↗
PubMed1957

Mobius's syndrome.

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Abducens Nerve↗
PubMed2000

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.

Members of the Sox gene family encode transcription factors that have diverse and important functions during development. We have recently described the cloning of chick and mouse Sox14 and the expression of these genes in a population of ventral interneurons in the embryonic spinal cord. We report here the cloning and sequencing of the human orthologue of Sox14. Human SOX14 shows remarkable sequence conservation compared with orthologues from other vertebrate species and probably mirrors the expression of these genes in the developing brain and spinal cord. Using radiation hybrid mapping and fluorescence in situ hybridisation, we have localised SOX14 close to the sequence tagged site D3S1576 on human chromosome 3q23. Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2). We have found that SOX14 is unlikely to be involved in any of these disorders because of the position of SOX14 proximal to a BPES breakpoint and the lack of SOX14 coding region alterations in BPES, CMT2B and MBS2 patients.

Amino Acid Sequence↗
PubMed1999

The möbius sequence: a relook.

BACKGROUND: The constellations of findings often referred to as Mobius syndrome might be better described as Mobius sequence, because the term sequence defines a cascade of secondary events after an embryonic insult from heterogeneous causes. Classic clinical findings include evidence of sixth and seventh cranial nerve involvement, often with associated malformations of limbs, craniofacial structures, and other cranial nerves. METHODS: A prospective study was undertaken in Sweden of 25 patients who showed characteristic findings of Mobius sequence. RESULTS: Of the patients who did not have strabismus surgery, 10 patients had straight eyes in the primary position, 7 had esotropia, 2 had exotropia, and 1 had hypertropia. All had significant limitation of abduction, except 1 patient with exotropia who showed minimal underaction on abduction but a large limitation of adduction. In the description in these early cases, some patients manifested a clinical pattern resembling a horizontal gaze paresis. Narrowing of the palpebral fissure on adduction similar to that seen in Duane syndrome was observed in a few cases. Two patients had ptosis. Nineteen patients had diminished facial expression bilaterally, often asymmetric, and 6 cases appeared to be unilateral. Seven patients had abnormal tearing. Associated systemic findings included Poland anomaly (2), club feet or other limb anomalies (8), micrognathia (8), tongue malformations (17), cleft palate (5), and speech problems (18). An unusual finding was autism syndrome (6) or autism-like syndrome (1). CONCLUSIONS: The associated findings in Mobius sequence may give further clues to the location and timing of the developmental disturbance. The wide range of ocular motility patterns suggests that the previous concept of a lesion solely in the sixth nerve nucleus is an inadequate explanation for these findings.

Abnormalities, Multiple↗
PubMed1995

Obstructive sleep apnoea presenting as failure to thrive in infancy.

OBJECTIVE: To study the postoperative outcome of infants under the age of 18 months in whom an adenotonsillectomy had been performed, with particular emphasis on the pre- and postoperative weight gain and linear growth velocities, and the resolution of symptoms of obstructive sleep apnoea (OSA). METHODOLOGY: A retrospective study of all infants in whom an adenotonsillectomy had been performed during the 5 year period to January 1990. Details of pre- and postoperative outcome variables were obtained by review of hospital and office records and by telephone calls to the parents. RESULTS: Complete data were available for 29 (76%) of the 38 infants in whom an adenotonsillectomy had been performed. The data from these infants are reported. Pre-operatively, all infants had clinical symptoms of OSA, and 52% of infants also presented with failure to thrive (FTT). Seven infants were dysmorphic: three had Down syndrome, three had a craniofacial anomaly and one infant had Mobius syndrome. Following adenotonsillectomy, 23 infants (79%) had complete resolution of their OSA symptoms. Two infants with Down syndrome required a tracheostomy to relieve persistent upper airway obstruction. Eighty-seven per cent of the infants with pre-operative FTT had a significant increase in weight gain velocity postoperatively (mean 195.1 +/- 80.8 s.d. vs 509.8 +/- 249.1 g/month; P < 0.001), including the infants with mild persistent symptoms of OSA. The weight gain velocity of infants who were not failing to thrive pre-operatively did not change significantly following adenotonsillectomy (328.1 +/- 106.9 vs 333.2 +/- 146.4 g/month; P = 0.82). The linear growth velocity of all infants did not change significantly postoperatively. CONCLUSIONS: OSA should be considered in infants with FTT, as adenotonsillectomy is an effective treatment for OSA in infancy, and the weight gain velocity of these infants may increase significantly postoperatively. Overnight oximetry or other physiological studies may be required if the clinical signs and symptoms of OSA are equivocal.

Adenoidectomy↗
PubMed1997

A parasomnia overlap disorder involving sleepwalking, sleep terrors, and REM sleep behavior disorder in 33 polysomnographically confirmed cases.

A series of 33 patients with combined (injurious) sleepwalking, sleep terrors, and rapid eye movement (REM) sleep behavior disorder (viz. "parasomnia overlap disorder") was gathered over an 8-year period. Patients underwent clinical and polysomnographic evaluations. Mean age was 34 +/- 14 (SD) years; mean age of parasomnia onset was 15 +/- 16 years (range 1-66); 70% (n = 23) were males. An idiopathic subgroup (n = 22) had a significantly earlier mean age of parasomnia onset (9 +/- 7 years) than a symptomatic subgroup (n = 11) (27 +/- 23 years, p = 0.002), whose parasomnia began with either of the following: neurologic disorders, n = 6 [congenital Mobius syndrome, narcolepsy, multiple sclerosis, brain tumor (and treatment), brain trauma, indeterminate disorder (exaggerated startle response/atypical cataplexy)]; nocturnal paroxysmal atrial fibrillation, n = 1; posttraumatic stress disorder/major depression, n = 1; chronic ethanol/amphetamine abuse and withdrawal, n = 1; or mixed disorders (schizophrenia, brain trauma, substance abuse), n = 2. The rate of DSM-III-R (Diagnostic and Statistical Manual, 3rd edition, revised) Axis 1 psychiatric disorders was not elevated; group scores on various psychometric tests were not elevated. Forty-five percent (n = 15) had previously received psychologic or psychiatric therapy for their parasomnia, without benefit. Treatment outcome was available for n = 20 patients; 90% (n = 18) had substantial parasomnia control with bedtime clonazepam (n = 13), alprazolam and/or carbamazepine (n = 4), or self-hypnosis (n = 1). Thus, "parasomnia overlap disorder" is a treatable condition that emerges in various clinical settings and can be understood within the context of current knowledge on parasomnias and motor control/dyscontrol during sleep.

Adult↗
PubMed1994

Neonatal facial nerve defect.

Facial paralysis in the newborn may be caused by trauma associated with delivery or by lesions secondary to congenital developmental anomalies. We previously reported the absence of the facial nerve in the horizontal segment of the temporal bone on both sides in a patient with Mobius' syndrome, usually classified as a nuclear developmental defect. In this study we report the findings from 7 additional temporal bones with similar abnormalities. A study of 42 temporal bones from infants with various congenital anomalies revealed nine temporal bones in which the facial nerve disappeared mid-way through the course of the temporal bone. Some of the nerve fibers suggested regeneration after necrotic lesions induced during the perinatal period.

Axons↗
PubMed2003

Moebius sequence and hypogonadotrophic hypogonadism.

A distinct form of Moebius sequence is associated with hypogonadotrophic hypogonadism. There have been five such cases to date. We now add a further case with detailed neurologic, endocrine, and autopsy findings and offer a hypothesis drawing parallels with the already established basis of hypogonadotrophic hypogonadism in the X-linked form of Kallman syndrome.

Cranial Nerve Diseases↗
PubMed2002

A case of Moebius syndrome in association with Klinefelter syndrome.

PURPOSE: To describe an infant affected by Klinefelter syndrome, who also demonstrated clinical signs of Moebius syndrome. METHODS: A clinical case report. RESULTS: A male infant was born full-term to a healthy couple after an unremarkable pregnancy. Several dysmorphic features and generalized hypotonia were noted at birth. Chromosome study revealed a 47, XXY chromosome pattern, which is consistent with Klinefelter syndrome. The patient also demonstrated clinical findings of Moebius syndrome: bilateral horizontal gaze palsy, bilateral cranial nerve seven palsy, pointed tongue, pectoral muscle hypoplasia, and clubfeet. CONCLUSION: 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.

Humans↗