Congenital Facial Palsy Research Articles

Diagnostic ophthalmologic findings in Moebius syndrome

Moebius syndrome is defined as congenital facial nerve palsy combined with abduction deficit. To precisely characterize the clinical phenotype beyond these minimum diagnostic criteria, we evaluated participants at consecutive Moebius Syndrome Foundation conferences.

English

Neonatal facial palsy is usually associated with difficult forceps delivery. Severe oligohydramnios causing difficult labor and delivery and this leading to congenital facial nerve palsy is a rare phenomenon. We present a very rare phenomenon where there was a congenital facial palsy due to neuropraxia caused by compression of facial nerve due to severe oligohydramnios before onset of labor that was subsequently detected following uncomplicated caesarean delivery. CAPSULE: Severe oligohydramnios with engaged head can lead to lower motor neuron palsy in the neonate due to compression effect.

Extensive darier’s disease with pityriasis amiantacea, alopecia and congenital facial nerve palsy

We present a 65-year-old man with Darier disease with pityriasis amiantacea on the scalp, alopecia, and congenital facial nerve palsy.

Oculoauriculovertebral spectrum with radial anomaly in child

Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial–renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

English

Congenital facial paralysis or facial paralysis at birth may be partial or complete. It may be idiopathic in nature or secondary to either birth trauma, tumors or other intrauterine environmental anomalies. Prompt diagnosis and appropriate timing of surgical intervention would improve quality of life if not complete functional restoration. Present article reports one such 60 years old male still waiting for treatment.

Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome

Congenital facial nerve palsy (CFNP) is a rare condition that can be generally categorized as developmental or traumatic. Though trauma during birth is the most common cause, sometimes CFNP is observed in association with genetic syndromes and congenital hearing loss and structural anomalies of the middle and inner ear. CFNP is infrequently reported in association with branchio-oto-renal (BOR) syndrome. We present a case of a 4-day-old infant girl with a familial history of renal disease, who was hospitalized because of congenital unilateral facial palsy, which subsequently appeared to be a part of BOR syndrome and led to the diagnosis of congenital bilateral renal hypoplasia, renal failure, and secondary arterial hypertension. This case proves that sometimes rare manifestations of BOR syndrome may be one of the first signs of an underlying syndrome. Issues regarding patterns of BOR syndrome inheritability and expressivity that we encountered are also discussed. Patients with a familial history of BOR syndrome should be carefully inspected after birth, especially in suspected cases such as newborns with preauricular pits and/or facial nerve palsy.

Moebius Syndrome and Hydrosyringomyelia

The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.

Facial palsy in individuals with thalidomide embryopathy: frequency and characteristics

Earlier studies have shown that individuals with thalidomide embryopathy can have skeletal deformities, ear and eye aberrations, and facial palsy. This study aimed to survey the frequency and characteristics of facial palsy in this group of individuals. Thirty-one individuals with thalidomide embryopathy (age range, 45-47 years) and 25 healthy adults (age range, 41-56 years; mean age ± standard deviation, 49 ± 4.2 years). Voluntary facial movements, lip force and three-dimensional lip motion analysis. Four of the thalidomide embryopathy individuals (13 per cent) had congenital facial palsy. All four had eye aberrations, three had ear anomalies and one had a limb anomaly. Individuals with thalidomide embryopathy without a clinical diagnosis of facial impairment had significantly weaker lips and more restricted lip mobility than healthy controls. This study contributes to the overall knowledge of thalidomide embryopathy by adding a description of how facial expression can be affected in this condition.

Rehabilitation of congenital facial palsy with temporalis flap – Case series and literature review

BackgroundCongenital facial paralysis is a rare disorder with an incidence of less than 1 in 1000 live births. Several surgical rehabilitation techniques have been described, such as free flaps or transpositions of the temporalis muscle. We report our experience of transposition of the temporalis muscle in this indication. Materials and methodsRetrospective monocentric study between January 2005 and December 2009. ResultsFive children (mean age at the surgery: 7.3years, range 6–13) presenting with a congenital facial paralysis were treated by a temporalis muscle transposition during the considered period. An etiological assessment was achieved by carrying out a petrous bone CT, a cerebral and petrous MRI, and audiometric evaluation. Four patients out of 5 (80%) showed a satisfactory and stable functional outcome over time (average follow-up: 26months). ConclusionTemporalis muscle transposition is a single-stage procedure, easily adapted for the pediatric condition of congenital facial paralysis. It is our opinion that this procedure needs to be carried out at the end of the pre-school period.

Compensatory expressive behavior for facial paralysis: Adaptation to congenital or acquired disability.

Although there has been little research on the adaptive behavior of people with congenital compared to acquired disability, there is reason to predict that people with congenital conditions may be better adapted because they have lived with their conditions for their entire lives (Smart, 2008). We examined whether people with congenital facial paralysis (FP), compared to people with acquired FP, compensate more for impoverished facial expression by using alternative channels of expression (i.e., voice and body). Participants with congenital (n = 13) and acquired (n = 14) FP were videotaped while recalling emotional events. Expressive verbal behavior was measured using the Linguistic Inquiry Word Count (Pennebaker, Booth, & Francis, 2007). Nonverbal behavior and FP severity were rated by trained coders. People with congenital FP, compared to acquired FP, used more compensatory expressive verbal and nonverbal behavior in their language, voices, and bodies. The extent of FP severity had little effect on compensatory expressivity. This study provides the first behavioral evidence that people with congenital FP use more adaptations to express themselves than people with acquired FP. These behaviors could inform social functioning interventions for people with FP.

607 X- Linked Agammaglobulinemia and Moebius Syndrome, First Case Reported

BackgroundTo know the association between X-linked Agammaglobulinemia and Moebius Syndrome. The X-linked Agammaglobulinemia or Bruton disease, is characterized by the absence of B cells and decreased serum immunoglobulin. The defective gen codes a tyrosincinasa protein: Btk. Moebius Syndrome is a congenital facial palsy with impairment of ocular abduction, by a craniofacial dysmorphism and limb-abnormalities.MethodsReview Medical Records in a patient with Diagnosis of Bruton Disease and Moebius Syndrome and review of cases in the literature. Case: Male patient, 15 years of age, a first borne from a normally evolved pregnancy, and no consanguinity data. There were some craniofacial dysmorphic features observed; severe lagofthalmus, lack of palpable lymph nodes and tonsils, difficulty swallowing, facial palsy, syndactyly, talipes equinovarus. Diagnosis is established as Moebius Syndrome by the department of genetics. Relatives have presented similar problems: 2 aunts and 2 uncles related to his mother had died prior to the first year of life with no specified cause. Almost since he became 3 years of age, has shown symptoms of rhinosinusitis, pneumonia, osteomyelitis in right knee caused by several pathogens as S. aureus and H. Influenzae, lack of weight and length, and multiple stays at the hospital. Serum IgG was 37.3 mg/dL, IgA < 23 mg/dL, IgM < 17.9 mg/dL, IgE < 14.2 IU/mL. The total lymphocytes (cells/Microliter) were 3203; T lymphocytes 80%, CD8 44%, CD4 34%, ratio CD4/CD8 0.78, CD56 8%, CD19 0 %, CD20 2%, CD22 2%. Treatment begins with intravenous gammaglobulin in replacement dosage.ResultsAccording to review the literature and data base, Mendelian Inheritance in Man, from the Johns Hopkins University, there is not known association between Bruton Disease and Moebius Syndrome. However, we consider important to report the coexistence of these diseases in one single patient. The karyotype should be studies in order to determine in a more objective way the probable link between both.ConclusionsSince there are not previous reports of the association between X-linked Agammaglobulinemia and Moebius Syndrome this might set the precedent for a better knowledge and its implications to the future.

Congenital bilateral facial nerve hypoplasia with sensorineural hearing loss: A case report

A 3-year-old child presented with congenital bilateral facial nerve palsy with bilateral profound sensorineural hearing loss. High Resolution Computed Tomogram (HRCT) of the temporal bones found bilateral atresia of cochlear nerve canals, incomplete partition of the cochleae and narrow facial nerve canals. Magnetic resonance imaging (MRI) revealed bilateral hypoplasia of facial nerves and aplasia of both vestibulocochlear nerves. There have been no other reported cases with this presentation. The possible aetiology and treatment options for the patient are discussed. We highlighted the review of aplasia/hypoplasia of the facial nerve and hypoplasia of cochlear nerve canal.

Facial Nerve Paralysis in Children: A Report of 29 Cases

We analysed 29 children diagnosed as having facial nerve paralysis at the Departments of Otorhinolaryngology or Pediatrics of Tokyo Medical University Hospital between January 2000 and December 2009. The most common cause was Bell’s palsy (18 cases). The other cases were Ramsey Hunt’s syndrome (5 cases), congenital (4 cases), traumatic (1 case) and otitis media (1 case). Only ten patients were able to undergo electroneurography (ENoG) and those children were all over six years old. The results of ENoG were from 12% to 62.2%. Even when the ENoG score was low, the clinical outcome was good. There was no relationship between the ENoG score and the prognosis in this study. All patients except those with congenital facial palsy were treated with steroids, and the palsy improved in all of them.

Gestural coupling and social cognition: Möbius Syndrome as a case study.

Social cognition researchers have become increasingly interested in the ways that behavioral, physiological, and neural coupling facilitate social interaction and interpersonal understanding. We distinguish two ways of conceptualizing the role of such coupling processes in social cognition: strong and moderate interactionism. According to strong interactionism (SI), low-level coupling processes are alternatives to higher-level individual cognitive processes; the former at least sometimes render the latter superfluous. Moderate interactionism (MI) on the other hand, is an integrative approach. Its guiding assumption is that higher-level cognitive processes are likely to have been shaped by the need to coordinate, modulate, and extract information from low-level coupling processes. In this paper, we present a case study on Möbius Syndrome (MS) in order to contrast SI and MI. We show how MS—a form of congenital bilateral facial paralysis—can be a fruitful source of insight for research exploring the relation between high-level cognition and low-level coupling. Lacking a capacity for facial expression, individuals with MS are deprived of a primary channel for gestural coupling. According to SI, they lack an essential enabling feature for social interaction and interpersonal understanding more generally and thus ought to exhibit severe deficits in these areas. We challenge SI's prediction and show how MS cases offer compelling reasons for instead adopting MI's pluralistic model of social interaction and interpersonal understanding. We conclude that investigations of coupling processes within social interaction should inform rather than marginalize or eliminate investigation of higher-level individual cognition.

Möbius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries

Möbius sequence is a congenital facial and abducens nerve palsy, frequently associated to abnormalities of extremities. Arthrogryposis multiplex congenital is defined as a congenital fixation of multiple joints seldom of neurogenic origin. Both sequences must have a genetic origin, but usually are sporadic cases related to environmental factors such as drugs exposition and maternal trauma. A 5-year-old girl and a 1-year-old boy were born with Möbius sequence and arthrogryposis multiplex congenital, respectively. During pregnancies, the mother had vaginal bleeding at 7 weeks and used crack (free-based cocaine) in the first trimester, respectively. The girl also has equinovarus talipes and autistic behavior. The boy has arthrogryposis with flexion contractures of the feet and knees. A vascular disruption, due to hemorrhage and cocaine exposure, causing a transient ischemic insult to embryos in a critical period of development may be responsible for distinct phenotypes in these cases.

Cardiopulmonary Arrest Caused by Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia is a rare congenital disorder that can cause craniofacial skeleton and tubular bone anomalies. A 7-month-old girl, with congenital facial palsy, mouth breathing, and nasal obstruction, was brought to the hospital because she suffered sudden cardiopulmonary arrest. Computed tomography showed bony narrowing of the choanae. The diagnosis was cardiopulmonary arrest triggered by asphyxia caused by severe choanal stenosis. She showed hypoxic encephalopathy and underwent a tracheotomy and an operation to enlarge choanae. When a neonate or young infant shows signs of nasal obstruction, physicians should aggressively search for and consider the possibility of choanal atresia or severe stenosis.

Inner Ear Anomalies in Congenital Aural Atresia

To define the prevalence of inner ear anomalies in aural atresia patients and to recognize patterns of developmental anomalies in aural atresia patients. Retrospective review. Academic medical center. Physical exam, audiometry, and temporal bone CT in selected patients. Pediatric patients with aural atresia. Prevalence of inner ear anomalies and coexisting facial paralysis or sensorineural hearing loss. In this series of 118 patients with aural atresia, associated facial palsy was seen in 13%, whereas inner ear anomalies were present in 22%, including all patients with facial palsy. Interestingly, the inner ear anomalies often did not display a significant sensorineural hearing loss. Bilateral inner ear anomalies were frequently encountered despite unilateral atresia. Most anomalies involved the semicircular canals including several uncommon variants of posterior semicircular canal anatomy. Inner ear anomalies are common in the presence of aural atresia, especially when there is concurrent congenital facial palsy. The presence of inner ear anomalies should be recognized as a common feature of craniofacial microsomia.

Moebius Syndrome and Holoprosencephaly Following Exposure to Misoprostol

Moebius syndrome is a rare disease characterized by congenital facial paralysis and abducens palsy. Involvement of other cranial nerves, orofacial dysmorphism, and limb abnormalities are frequently associated. Reported here is the case of a 10-month-old child born with Moebius syndrome and presenting with holoprosencephaly, following exposure in utero to misoprostol. To our knowledge, this is the first published case report describing this association. The etiologic hypotheses of Moebius syndrome are also discussed.

Behaviour problems of patients with Moebius sequence and parental stress

Moebius sequence is a rare condition usually defined as congenital facial paralysis with congenital impairment of ocular abduction. At present, there is little information on behavioural problems, parental stress and possible relationships between these factors. To fill this gap, this study investigated these aspects relevant for counselling. Parents of 4-17 year old subjects known to the German Möbius syndrome foundation were anonymously asked to fill out several questionnaires, for example, the Child Behavior Checklist (CBCL)4-18. The primary care givers of 41/58 subjects (70.7%) sent back filled-out questionnaires. Ten subjects did not meet the inclusion criteria; 15 males and 16 females (4; 7-17; 0 years, median age: 10; 7 years) were included. Ten out of 31 subjects were rated as clinical on at least one CBCL scale; three had a total problem score in the clinical range. Social problems were the most important problems with rates of 12-17-year old subjects being about five times as high as those of younger subjects. Compared with the general population, but not with other parents of mentally and/or physically handicapped children, the primary care givers experienced higher levels of stress, which were correlated to anxious/depressed behaviour, aggressive behaviour, externalising problems and total problem score of the children. The older a child the higher the primary care giver's life satisfaction was. Social problems seem to be frequent among 4-17-year old subjects with Moebius sequence, and primary care givers show increased strain. Therefore, families with an affected child need early and adequate support.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

Craniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early-onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T>C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T>G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. (c) 2010 Wiley-Liss, Inc.