Congenital Facial Palsy Research Articles

Soft tissue facial morphometry in subjects with Moebius syndrome

Moebius syndrome is a congenital facial palsy associated with the impairment of ocular abduction. The three-dimensional characteristics of the facial soft tissues of 12 male and 14 female subjects [3-52 yr of age (mean age + standard deviation: 17 + 14 yr)] were measured using a non-invasive, computerized system; facial volumes, areas, angles, and distances were computed and compared with those obtained in reference subjects of the same age and gender. When compared with reference subjects, patients with Moebius syndrome had a more prominent and hyperdivergent face in the sagittal plane, a smaller and more prominent upper facial third; a smaller middle facial width; a smaller nose; smaller mandibular volume, depth, corpus length, and ramus height; and a more posterior positioned mandible, with a less prominent chin. In conclusion, patients with Moebius syndrome had a tendency towards a skeletal Class II pattern. These morphological variations may be the combined effect of a general alteration of the motor and sensitive facial nerves, including the trigeminal nerve, and of a maldevelopment of the brainstem.

Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome

According to the reverse simulation model of embodied simulation theory, we recognize others' emotions by subtly mimicking their expressions, which allows us to feel the corresponding emotion through facial feedback. Previous studies examining whether facial mimicry is necessary for facial expression recognition were limited by potentially distracting manipulations intended to artificially restrict facial mimicry or very small samples of people with facial paralysis. We addressed these limitations by collecting the largest sample to date of people with Moebius syndrome, a condition characterized by congenital bilateral facial paralysis. In this Internet-based study, 37 adults with Moebius syndrome and 37 matched control participants completed a facial expression recognition task. People with Moebius syndrome did not differ from the control group or normative data in emotion recognition accuracy, and accuracy was not related to extent of ability to produce facial expressions. Our results do not support the hypothesis that reverse simulation with facial mimicry is necessary for facial expression recognition.

Rapidly Declining Unilateral Hearing Within 1 Month in a Newborn With Internal Auditory Canal Stenosis and Facial Palsy

Most newborns with congenital unilateral facial palsy are expected to recover; however, when a patient has hearing loss, underlying developmental ear structure abnormalities should be investigated, particularly when the patient has internal auditory canal stenosis, which is rarely reported in newborns. All cases of internal auditory canal stenosis are accompanied by concomitant unilateral or bilateral hearing loss, but none with progressive hearing loss has been reported. We present the case of a newborn with rapidly declining hearing in the left ear within 1 month after birth. The hearing decline was associated with unilateral facial palsy. Using high-resolution computed tomography (CT) of the temporal bone, we diagnosed the patient with congenital internal auditory canal stenosis. This is the first case detected with progressive hearing loss after birth, which implies that prompt diagnosis and early habilitation are warranted, even when the hearing loss is initially mild.

Infantile Onset Neurofibromatosis Type 2 Presenting with Peripheral Facial Palsy, Skin Patches, Retinal Hamartoma and Foot Drop

Neurofibromatosis type 2 (NF2) has long been regarded as an adult onset disease. However, it is now known that many NF2 patients present clinical signs and symptoms in early childhood. We here report an illustrative case of a male adolescent with an infantile onset clinical symptomatology. A 15-year-old male adolescent presented with a history of congenital peripheral facial palsy, amblyopia, a retinal "membrane", and weakness of the left lower limb. Clinical, electrophysiological, radiological, and molecular studies of the patient are shown. A peripheral axonal neuropathy of the left lower limb was found. Formerly unidentified retinal findings could be diagnosed as combined pigment epithelial, and retinal hamartoma (CPERH). In addition, two café au lait spots and a nodular skin tumour were found. Bilateral vestibular schwannoma finally led to the diagnosis of NF2, which could be genetically confirmed. NF2 can already become evident in infancy. While in adulthood tinnitus, hearing loss and vestibular symptoms are the classical signs, these are often absent in the paediatric group. Children rather have ocular symptoms, neurological problems such as cranial nerve palsies other than eighth nerve, limb weakness and skin manifestations as early clinical signs.

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies, and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although some investigations suggested that a causative gene may lie on 13q12.2–q13, there have been no molecular studies targeting possible microdeletions in this region to date. In the present study, we performed microdeletion analyses on 13q12.11–q13 in nine patients, and sequenced three candidate genes in nineteen patients for functional relevance and further resolution of our screening. We ruled out microdeletions on the critical region as a common cause of Moebius syndrome and excluded FGF9, GSH1 and CDX2 genes.

Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although a genetic etiology for Möbius syndrome was proposed, molecular genetic studies to identify the causative gene(s) are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPPsig-BASP1, which is located on chromosome 13q flanking the putative locus for Möbius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Möbius syndrome.

Congenital Unilateral Facial Palsy and Internal Auditory Canal Stenosis

Congenital stenosis of the internal auditory canal is a rare clinical entity. The majority of patients exhibit sensorineural hearing loss, and preserve facial-nerve function. We present a patient who manifested congenital unilateral facial palsy and ipsilateral sensorineural hearing loss clinically. Neuroimaging demonstrated stenosis of the unilateral internal auditory canal and hypoplasia of the ipsilateral trigeminal, facial, and vestibulocochlear nerves, despite normal function of the trigeminal nerves. The functional prognosis of facial and vestibulocochlear nerves was poor, and cognitive development demonstrated borderline delay.

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome

Möbius syndrome typically presents as a sporadic trait with congenital facial palsy and abduction impairment. We used high-resolution magnetic resonance imaging (MRI) and genetic analysis to examine a family with features of Möbius syndrome. We examined 3 related family members having congenital complete opthalmoplegia with ptosis and facial diplegia. Orbits were imaged in quasi-coronal and sagittal planes of 2 mm thickness. Subarachnoid cranial nerves were imaged in planes of 1 mm thickness. Linkage and mutation analysis were performed to determine whether the pedigree harbored mutations in 4 candidate genes. In affected subjects, MRI showed marked hypoplasia of extraocular muscles and intraorbital motor nerves. In the anterior orbit, rectus extraocular muscles were less hypoplastic but markedly curved toward insertion. Oblique extraocular muscles were hypoplastic and abnormally inserted. Posterior bony orbits were hypoplastic. Optic nerves were markedly straightened. Brainstems and cranial nerves III, VI, VII, and VIII were normal bilaterally. No pathogenic mutations were detected in affected individuals. Previous MRI studies have demonstrated brainstem hypoplasia and cranial nerve aplasia in Möbius syndrome. The current family had normal brainstems and subarachnoid portions of motor cranial nerves innervating the orbit but marked extraocular muscle hypoplasia. These clinical and MRI findings are atypical for Möbius syndrome and other congenital cranial dysinnervation disorders. Congenital facial weakness and complete ophthalmoplegia may occur despite MRI evidence of normal brainstem anatomy. The endophenotype appears to result from a genetic defect distinct from the congenital cranial dysinnervation disorders defined thus far, rather than a global brainstem insult.

MRI in Congenital Facial Palsy

Magnetic resonance (MR) findings in a 12-month-old boy with congenital unilateral facial palsy and a 9-month-old girl with atypical Moebius syndrome are reported from the National Center of Neurology and Psychiatry, Kodaira, Japan.

Unilateral Congenital Facial Nerve Paralysis Secondary to a Benign Epithelioid Peripheral Nerve Sheath Tumor

A benign epithelioid peripheral nerve sheath tumor is described in the setting of congenital facial nerve (FN) paralysis. This is the first reported case in the English literature. A 10-month-old girl with unilateral congenital FN paralysis. Auditory brainstem evoked potential study, gadolinium-enhanced magnetic resonance imaging, temporal bone computed tomography, and transmastoid FN decompression with tumor resection. Follow-up for tumor recurrence and postoperative FN function. The child underwent a transmastoid FN exploration with resection of a 0.6-cm spherical tumor analyzed to be a benign epithelioid peripheral nerve sheath tumor. There is no evidence of recurrence, and FN function was unchanged at 1 year postoperatively. Benign epithelioid peripheral nerve sheath tumor can cause congenital facial nerve palsy.

Magnetic resonance imaging in congenital facial palsy

We report magnetic resonance (MR) findings in a patient with congenital unilateral facial palsy and a patient with atypical Moebius syndrome. MR imaging showed a complete deficiency of right facial nerve in the patient with congenital unilateral facial palsy and bilateral, thin proximal facial nerves in the Moebius syndrome patient. Three-dimensional constructive interference in steady state (3D-CISS) MR imaging, especially reconstructions perpendicular to the bilateral internal auditory channel, was very useful when diagnosing patients with facial palsy due to the associated facial nerve abnormalities.

DMP011 Congenital facial palsy: radiological and electrophysiological evaluation of two cases

DMP011 Congenital facial palsy: radiological and electrophysiological evaluation of two cases

Ectopic bone formation as a complication of surgical rehabilitation in patients with Moebius’ syndrome

Treatment of facial paralysis by muscular neurotization resulted in ectopic ossification in 1 of 134 cases in this department. That patient suffering from Moebius syndrome (MS) is presented. Reviewing the literature concerning MS, Hox genes and bone morphogenetic protein dysregulation, a pathogenesis of ossification in MS is suggested. The MS patient exhibited a congenital facial nerve palsy, which was treated by muscular neurotization (Lexer-Rosenthal). Because of postoperative ossification of scarred areas, osteotomy of the processus muscularis and mobilization of the masseter muscle was performed. Nevertheless, further ossification occurred at the interface between the mandible and zygoma and in two masticatory muscles. So, the construction of a neoarthrosis became necessary. Three years later, the iatrogenic bone defect had reossified despite of an active opening therapy. Ectopic ossification after muscular neurotization seems to be restricted to patients with MS and is triggered by trauma. Molecular pathogenesis: facial malformations in MS are caused by disturbances in embryonic patterning. Failure in the development of the second pharyngeal arch leads to a spatial BMP-4 dysregulation responsible for ossification after wounding of muscle fascia. Therefore, surgical rehabilitation of facial function by muscular neurotization is contra indicated in MS patients.

Goldenhar syndrome with external auditory canal stenosis complicated by canal cholesteatoma and first branchial cleft cyst

This report features a case of Goldenhar syndrome with congenital left facial nerve paralysis, microtia and external auditory canal stenosis complicated by an external auditory canal cholesteatoma and first branchial cleft cyst. The workup and surgical management of this rare constellation of defects is detailed. The features of this case are instructive as they provide insight into abnormal ear development. Otolaryngologists should retain a high index of suspicion for the presence of congenital cholesteatoma, branchial cleft anomalies and facial nerve abnormalities when evaluating patients with Goldenhar syndrome.

Moebius-Poland syndrome and hypogonadotropic hypogonadism

Keywords Moebiussyndrome.Polandsyndrome.Hypogonadotropic.HypogonadismCase reportA male infant was born at 39 weeks of gestation, with birthweight (3.1 kg) and body length (49 cm) (both 50thpercentile). The occipitofrontal circumference was 33 cm(25th percentile). The newborn’s face was inexpressive dueto complete facial diplegia, bilateral ophthalmoplegia withimpairment of the vertical gaze of the right eye, palpebralptosis, a carp-shaped mouth, and a high-arched palate.Muscle and skeletal abnormalities were also apparent,including the absence of the pectoralis major and trapeziusmuscles, as well as left cubitus valgus; left hand washypoplastic and showed 5th finger clinodactyly. Thesefeatures prompted the diagnosis of Moebius-Poland syn-drome. No previous cases were known in the patient’sfamily. Clinical examination revealed no other dysmorphicfeatures except for micropenis. The karyotype was normal(46 XY). During follow-up, a mild psychomotor delay wasconfirmed by Denver Developmental Screening Test-II.Cortical-subcortical atrophy with no other structural abnor-malities was observed in magnetic resonance imaging(MRI) of the brain. Delayed puberty was recorded whenthe patient was 15 years of age (Tanner stage I wasrecorded after physical examination). The testicular volume(measured using a Prader orchidometer) was 2 ml. Anos-mia-tested by a standard olfactory test (CCCRC)- was notpresent. An endocrinological investigation revealed lowbaseline serum FSH (0.5 mU/ml), LH (0.1 mU/ml) andtestosterone (2 ng/dl) levels. To confirm the suspectedhypogonadotropic hypogonadism, a gonadotrophin releas-ing hormone stimulation test was performed and a verysubnormal response obtained (after 180 min and 24 h FSHconcentrations were 3.5 mU/ml and 0.7 mU/ml, respective-ly, and LH concentrations 0.7 mU/ml and 0.2 mU/ml,respectively). GH, TSH, and ACTH levels were normal. Afurther MRI scan of the brain showed no pathologicallesions in the hypothalamus or pituitary gland. With adiagnosis of hypogonadotropic hypogonadism established,the child was treated with gonadotrophic hormone followedby depot preparations of testosterone. The patient eventu-ally reached a normal weight and height and attained fullsexual development (final testicular volume 6–8 ml).DiscussionThe usual diagnostic criteria for Moebius syndromeinclude congenital facial palsy with impaired ocularabduction [1, 2, 4, 6]. Nevertheless, in a thorough review,Verzijl et al. reported that abducens nerve palsy is notalways present [6]. Vertical gaze palsy was recorded in theright eye of the present patient, suggesting involvement ofthe 3rd cranial nerve (Fig. 1). MRI scans often demonstrateanomalies of the posterior fossa in patients with Moebiussyndrome, and it has been proposed that the latter beunderstood as a complex congenital anomaly affecting the

Reversible congenital facial nerve palsy: An uncommon cause of asymmetric crying facies in the newborn

Reversible congenital facial nerve palsy: An uncommon cause of asymmetric crying facies in the newborn

Congenital facial palsy and peripheral neuropathy. Manifestation of Neurofibromatosis Type 2 in childhood

Introduction: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours. Only recently peripheral neuropathy has also been described as a frequent clinical manifestation. Although previously regarded as an adult disease initial signs and/or symptoms may be evident in childhood and are often unrecognised. In order to illustrate typical features of NF2 in childhood we present a case of an adolescent with early onset multifocal involvement. Typical clinical, electrophysilogical, and imaging results are demonstrated.

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

Hereditary congenital facial palsy (HCFP) is an autosomal-dominant disorder consisting of paresis or paralysis of the VIIth (facial) cranial nerve. Genetic heterogeneity for this disorder has been suggested based on linkage analysis in two large Dutch families. Two loci have been identified, one on chromosome 3q21.2-q22.1 (HCFP1) and another on chromosome 10q21.3-q22.1 (HCFP2). Here, we report linkage analysis in a large Pakistani family with dominant congenital facial palsy. A region cosegregating with the disorder was identified on the long arm of chromosome 3, which overlaps with the previously identified HCFP1 locus on chromosome 3q21-q22, thus confirming the involvement of this locus in HCFP. The critical region could be reduced from 5.7 to 3.0 cM between the markers D3S3607 and GDB ID:11524500. In addition, mutation analysis on seven candidate genes: KLF15, FLJ40083, PODXL2, TMCC1, PLEXIN-A1, PLEXIN-D1, and GATA-2, was performed. All genes are located within the critical interval of the Dutch HCFP1 family. The genes PODXL2, PLEXIN-D1, GATA-2, and TMCC1 are also located within the smaller critical interval of the Pakistani HCFP family. Based on the results obtained, all seven genes could be excluded as causative genes in HCFP.

The localization of facial motor impairment in sporadic Möbius syndrome

To investigate the neurophysiologic aspects of facial motor control in patients with sporadic Möbius syndrome defined as nonprogressive congenital facial and abducens palsy. The authors assessed 24 patients with sporadic Möbius syndrome by performing a complete clinical examination and neurophysiologic tests including facial nerve conduction studies, needle electromyography examination of facial muscles, and recording of the blink reflex and of the trigeminofacial inhibitory reflex. Two distinct groups of patients were identified according to neurophysiologic testing. The first group was characterized by increased facial distal motor latencies (DMLs) and poor recruitment of small and polyphasic motor unit action potentials (MUAPs). The second group was characterized by normal facial DMLs and neuropathic MUAPs. It is hypothesized that in the first group, the disorder is due to a rhombencephalic maldevelopment with selective sparing of small-size MUs, and in the second group, the disorder is related to an acquired nervous injury during intrauterine life, with subsequent neurogenic remodeling of MUs. The trigeminofacial reflexes showed that in most subjects of both groups, the functional impairment of facial movements was caused by a nuclear or peripheral site of lesion, with little evidence of brainstem interneuronal involvement. Two different neurophysiologically defined phenotypes can be distinguished in sporadic Möbius syndrome, with different pathogenetic implications.

High-Resolution Magnetic Resonance Imaging (MRI) Demonstrates Abnormalities of Orbits and Extraocular Muscles (EOMs) in a Novel Moebius-Like Cranial Neuropathy

Introduction: Moebius syndrome typically presents as congenital facial palsy with abduction impairment. We used MRI to examine a family with features of Moebius syndrome. Methods: We examined three related family members with complete opthalmoplegia, blepharoptosis, and facial diplegia. Orbits were imaged with T1-weighting in quasi-coronal and sagittal planes using surface coils. Intraorbital resolution was 234 to 312 microns within 1.5- to 2.0-mm-thick planes. Cranial nerves (CNs) were imaged at the brainstem using head coils and T2-weighting, yielding resolution of 195 microns in planes 1.0 mm thick.