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At least 19 recordsLinked to original sources
PubMed1999

Segmental facial myoclonus in moebius syndrome.

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. There have been no reports of involuntary facial movements associated with this malformative complex. We report on a 6-year-old boy affected by Moebius syndrome with asymmetric involvement and segmental facial myoclonus with onset at age 2 years, affecting the side with partially conserved motility. Clinical presentation included congenital peripheral palsy of the right seventh cranial nerve and left-sided rhythmic rising of the upper lip and eyebrow. Surface-electromyography (EMG) of the left levator labii and frontalis muscles showed rhythmic bursting (duration: 150-450 ms; frequency: 1-3 Hz). Electroencephalographic (EEG)-polygraphic recordings and burst-locked EEG averaging failed to show any consistent EEG activity preceding the EMG bursts. Study of the blink reflex, somatosensory and motor-evoked potentials showed findings consistent with pontine pathology. Segmental facial myoclonus, although extremely rare in children, must be differentiated from several other paroxysmal motor manifestations associated with structural lesions involving the brain stem. Segmental facial myoclonus stem-Structural lesion.

Child↗
PubMed1993

Successful strabismus surgery in a child with Moebius syndrome.

Moebius syndrome is characterized by congenital paralysis, usually bilateral, of the lateral rectus muscles and the muscles of facial expression. Esotropia is common in these patients. Few reports exist of the surgical results after treatment of strabismus in such patients. We report the case of a 19-month-old white boy with Moebius syndrome who demonstrated an A-pattern esotropia with orthotropia in down-gaze. Use of a conventional surgical approach for an A-pattern esotropia and a bilateral medial rectus recession with a one-half tendon-width supraplacement produced the desired result of orthotropia in primary gaze in our patient.

Esotropia↗
PubMed1999

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.

Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. 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. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.

Adolescent↗
PubMedDate not supplied

[Poland syndrome associated with Moebius syndrome].

We present a case of a girl with Poland's Syndrome (absence of pectoral muscle and syndactyly) associated with Moebius Syndrome. More abnormalities, especially visceral, may be associated with it and therefore the clinician must know and identify them as soon as possible. We underline the importance of a precocious correction of the hand's abnormalities in order to avoid changes in the corporal pattern otherwise not correctible later. A retard in surgical treatment will produce a failure like in our patient.

Child↗
PubMedDate not supplied

The spectrum of congenital facial diplegia (Moebius syndrome).

The Moebius syndrome consists of congenital facial diplegia with associated anomalies. No single pathophysiologic hypothesis accounts for all aspects of the syndrome. We present six cases which manifest a very broad spectrum of associated neurologic anomalies. Postmortem examination was performed on two cases. Midline brainstem necrosis was evident in one while the other had subtle brainstem hypoplasia. The four other patients have demonstrated fixed deficits on follow-up examinations. Improvement in brainstem evoked potential waveforms has occurred in three cases, but the significance is uncertain. Many of the cases were delivered by caesarean section because of failure of labor to progress, and had associated polyhydramnios and arthrogryposis. These features suggest that a defect is established in utero. Only one infant, born prematurely, may have suffered some perinatal brainstem insult. Congenital facial diplegia is a heterogenetic entity which can affect the nervous system in many different ways.

Abnormalities, Multiple↗
PubMed1996

Two cases of maternal antenatal splenic rupture and hypotension associated with Moebius syndrome and cerebral palsy in offspring. Further evidence for a utero placental vascular aetiology for the Moebius syndrome and some cases of cerebral palsy.

UNLABELLED: We wish to report two cases of congenital abnormality after antenatal car accidents resulting in ruptured spleen and severe hypotension in the mothers at 8 and 14 weeks gestation. The first case had the classical Moebius syndrome with 6th and 7th cranial nerve palsy with abnormal brain stem evoked responses, presumably due to hypoxic/ischaemic brain stem damage and the second case had severe retardation and hypertonic cerebral palsy which at post mortem was found to be due to old hypoxic/ischaemic lesions to the caudate nucleus putamen and striatum. CONCLUSION: The cases described provide evidence that severe maternal hypotension during pregnancy can be associated with lesions to the midbrain and brain stem of offspring. 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.

Accidents, Traffic↗
PubMed1976

[Moebius' syndrome and Poland's anomaly (author's transl)].

The syndrome of Moebius and Poland's anomaly have some features in common. The malformations of the limbs-especially those of the fingers (brady-, syn-, symbrachydactyly)-are identical in both disorders. Hypoplasia of the m. pectoralis major, characteristic for Poland's anomaly, may accompany Moebius' syndrome and cerebral nerve pareses may be associated with Poland's anomaly, thus distinction between the two disorders may be impossible. Both disorders affect the embryo at the same gestational age and the causative factor is unknown in either of them. Simultaneous evaluation of findings observed in patients suffering of either condition should be performed to elucidate pathogenesis and aetiology.

Abducens Nerve↗
PubMed2004

"Moebius syndrome": a case report.

Moebius syndrome is an extremely rare disorder characterized by a lifetime facial paralysis, involving sixth and seventh cranial nerves with malformations of orofacial structures and the limbs. In this case, an 8 year old girl with Moebius syndrome is presented, clinical findings are described and management aspects are discussed. Early dental evaluation and parental counselling as a part of preventive dental regimen can go a long way in providing complete psychosocial rehabilitation for such physically disabled children.

Child↗
PubMedDate not supplied

Extraocular muscle aplasia in Moebius syndrome.

A case of Moebius syndrome with bilateral aplasia of the medial and lateral recti is reported. The fibrous bands that replaced the medial recti were inserted posteriorly on the globe resulting in a restrictive large angle esotropia. Surgical intervention resulted in alignment in the primary position. The present case favors a primary mesodermal dysplasia of the extraocular musculature in Moebius syndrome.

Esotropia↗
PubMed1996

[Moebius syndrome: therapeutic proposals from 2 cases].

Moebius syndrome is a congenital bilateral palsy of the sixth and seventh cranial nerves. It results a total absence of facial expression and a severe strabismus. Social life is greatly disturbed. Other anomalies may be associated, especially other cranial palsies and Poland syndrome. The etiology of this syndrome isn't clearly established. Stem necrosis secondary to a vascular deficiency is often admitted. We report two observations. We emphasize the importance of a complete maxillo-facial treatment including maxillo-mandibular anomaly. Both patient underwent orthognathic surgery. The first one for class II and the second for class III anomaly. One patient underwent a facial reanimation by temporal muscle transfer. Orthognathic surgery must be realized prior to facial reanimation. A correction of the strabismus is possible. Moebius syndrome is a rare (200 observations) but very severe malformation. Maxillofacial surgery is able to improve the morphological and relational aspect of Moebius syndrome.

Adolescent↗
PubMedDate not supplied

Moebius syndrome: report of case.

This is a review of diagnosis, etiology and abnormalities of Moebius syndrome. The Moebius syndrome is rare and the cause is still unclear. It presents a case of a premature newborn baby with Moebius syndrome, showing unilateral facial nerve palsy, asymmetry of facial expression, inability to tightly close the right eyelids, asymmetry of the angles of the mouth with frequent drooling, poor sucking ability, dysphagia, extremity abnormalities and other cranial nerve involvement (VIII, IX, X, XI). He also had hypoplasia of the pons, a heart defect, and bilateral cryptorchism. The baby died of apnea on the 41st day after birth.

Abnormalities, Multiple↗
PubMed1998

Neuropathological findings in Moebius syndrome.

Pathological findings in two patients with Moebius syndrome and lethal fetal akinesia sequence are described. In both patients a congenital brain stem malformation with neuronal loss in the cranial nerve nuclei and tegmental microcalcifications was observed. In one patient, the association with splenogonadal fusion was observed, whilst in the second patient, the association with tetraperomelia was present. As the association of peromelia and splenogonadal fusion is a well-known association, the different combination of splenogonadal fusion, peromelia and Moebius syndrome due to congenital brain stem anomalies with necrosis might be the result of a disruptive phenomenon during a prolonged vulnerable critical period in the 5th and 6th week of embryonic life. 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.

Abnormalities, Multiple↗
PubMed1991

Deletion of chromosome 13 in Moebius syndrome.

A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.

Child, Preschool↗
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↗
PubMed2006

A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis.

We describe a female infant with bilateral facial paralysis and abducens palsy. To the best of our knowledge, this is the first report of Moebius syndrome presenting with congenital bilateral vocal cord paralysis (CBVCP). Although CBVCP can be part of a recognizable syndrome, i.e. Down syndrome, 22q deletion syndrome, Robinow's syndrome and cerebro-oculo-facio-skeletal syndrome, no reports of Moebius syndrome with CBVCP were found in the literature. CBVCP is often associated with central nervous system abnormalities. However, our patient had no detectable brain abnormalities. The etiology of Moebius syndrome remains unknown. It is interesting that the clinical manifestations of Moebius syndrome can include CBVCP. However, the pathophysiology of CBVCP is unknown and further investigations into the etiology of Moebius syndrome are required.

Anticonvulsants↗
PubMed2001

Resiliency and success in adults with Moebius syndrome.

OBJECTIVE: This study asked selected mature individuals with Moebius syndrome to discuss the sources of strength and resiliency that allowed them to achieve professional and personal success. DESIGN: Adults with Moebius syndrome were selected in a nonrandom manner based primarily on their affiliation with the Moebius Syndrome Foundation. Following a letter from the author describing the objective, the subjects were interviewed by telephone and were encouraged to respond at length. PARTICIPANTS: Eighteen adults (aged 29 to 70 years) responded. All were or had been gainfully employed in a variety of professional or vocational positions. RESULTS: The respondents reported the following as major sources of resiliency and success: family support, faith, humor, sense of self, special skills, determination, and networking. CONCLUSIONS: The recognition and reinforcement of strengths and resiliences in younger patients may help maximize their professional and personal success as adults.

Adaptation, Psychological↗
PubMed1996

Moebius syndrome: a review of the anaesthetic implications.

Moebius syndrome is a rare congenital anomaly characterized by multiple cranial nerve palsies, orofacial malformations and limb anomalies. This study retrospectively reviewed the anaesthetic records of 19 children with Moebius syndrome who had anaesthesia at the Royal Alexandra Hospital for Children over a 15 year period and analysed the complications which occurred. Affected children most commonly present for anaesthesia for correction of strabismus, or for orthopaedic procedures to improve limb function. Despite the abnormal facies and drooling of saliva, these children are almost always of normal intelligence. Problems can arise during anaesthesia, with a high incidence of difficult or failed intubation. The use of a facemask and spontaneous breathing technique, where appropriate, seems to present no problems and maintaining an airway in this way appears to be safe. However, the potential for problems with aspiration of oral secretions should be remembered and the use of antisialogogue premedication is recommended. Affected children have a high incidence of other anomalies, including congenital cardiac disease, spinal anomalies, corneal abrasions and peripheral neuropathies and a careful preoperative assessment is essential.

Adolescent↗
PubMed1989

Autistic behaviour in Moebius syndrome.

Seventeen children and young adults with Moebius syndrome were examined with a view to finding symptoms of autism. Some 40% of the group showed all or many of the symptoms typical of autistic disorder. The high frequency of autistic symptoms in Moebius syndrome might be a marked overrepresentation and could be suggestive of a common underlying neurobiological deficit at the brainstem level.

Adolescent↗