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Asymmetric crying facies: hypoplasia of depressor anguli oris muscle. Figure 4: Facial diplegia in Möbius syndrome.
Context in source publication
Context 1
... of this syndrome is easy in cases of total or partial facial diplegia, whether symmetrical or asymmetrical, associat- ed with bilateral paralysis of abduction of the eye. 37 When the facial diplegia is partial, it usually involves the upper half of the face. Abducens palsy often has the appearance of esotropia (Fig. 4). Paralysis of the hypoglossal nerve with atrophy of the tongue is present in one-third of cases. Most patients have congenital dysphagia, drooling, malocclusion, velopha- ryngeal incompetence, dysarthria, and delayed speech. 38 Trigeminal nerve involvement with trismus is less frequent. Talipes equinovarus, different malformations of ...
Citations
... Asymmetric crying facies is a rare, congenital condition connected to unilateral hypoplasia or agenesis of muscles responsible for the movement of the mouth (the depressor anguli oris muscle, the depressor of the edge of the mouth, and the depressor of the labii inferioris) [59]. The face structure is normal during rest, but worsens when a child smiles, laughs, or cries. ...
Symmetry of the face is one of the most important features for the perception of attractiveness. Asymmetry of the face means that the right and left sides of the face are not identical. Subclinical facial asymmetry is very common in the general population. Most people have some slight facial asymmetry, and this is the normal biological situation in humans. Abnormalities from soft tissue, dental, and skeletal elements lead to facial asymmetry. Asymmetry has many causal factors, and its aetiology includes both congenital and acquired conditions. Neurological facial asymmetry is scarcely addressed in the dental literature. In this narrative review, we focus on the most common neurological causes of facial asymmetry. From a neurological point of view, facial asymmetry can result from disturbances of the cranial nerves, developmental disorders, or myopathies. In the broad range of differential diagnostics of facial asymmetry, neurological abnormalities should be taken into consideration. The treatment must be related to the underlying cause. Complete knowledge of the aetiological factors and the character of the asymmetry plays a crucial role in formulating a treatment plan.
... According to the literature, congenital facial palsy caused by birth trauma is mostly transient and usually resolves within 2 years. Facial palsy caused by a developmental defect has a less favorable prognosis [12,13,19,24]. Nevertheless, even with a history of a birth trauma, a complete work-up is recommended to exclude other causes and to avoid therapeutic implications [8,12,28]. ...
... An electrode was inserted in the M. orbicularis oris, the M. orbicularis oculi, and the M. frontalis to measure both voluntary and spontaneous muscle contractions. The information of the nerve deficit together with the muscle deficit helps to distinguish between a developmental or a traumatic cause [6,19,24]. ...
Unilateral facial palsy in a newborn is rarely caused by a developmental defect. It occurs either isolated or in the context of a syndrome. This article describes a multidisciplinary approach towards unilateral, isolated congenital facial palsy along with a literature review. We report six patients, three boys and three girls, who presented with a unilateral facial palsy at birth. Clinical assessment was performed by an ear-nose-throat (ENT) surgeon, a pediatric neurologist, and an ophthalmologist. Magnetic resonance imaging (MRI) of the posterior fossa and computerized tomography (CT) of the temporal bone were requested to exclude structural anomalies of the facial nerve. Imaging revealed the underlying cause in five patients out of six (80%), showing an ipsilateral facial nerve aplasia or hypoplasia. These findings point towards an underlying developmental defect and underscore the importance of MRI in the diagnostic work-up. Surgical and non-surgical therapies were discussed with the parents.
Conclusion: Congenital unilateral facial palsy caused by a developmental defect outside the context of a syndrome is rare. A multidisciplinary approach is recommended to differentiate between various causes and to initiate timely treatment.What is Known:
• Congenital facial palsy is mostly caused by environmental/external fcators.
• However in rare cases it can be developmental defect.
What is New:
• This paper describes 6 cases of isolated congenital facial palsy related to a developmental defect and presents the largest case series in the literature caused by aplasia/hypoplasia of the facial nerve.
• MRI and CT-imaging allow for an assessment of the facial nerve at the root entry zone of the brainstem and along its course through the middle ear or the face. Moreover, they proved to be helpful in differentiating between several causes of congenital facial palsy.
... EMG showed signs of hypoplasia of the DAO muscle in 41 of 51 infants with ACF. There was no question of total muscular agenesis in any case [15]. The EMG findings of the lower lip of the patient in the present case were insignificant. ...
Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.
... A majority of cases of NACF are caused by the hypoplasia of the DAOM and less commonly the DLIM. Injury to one of the peripheral branches of the facial nerve secondary to trauma may also present with this deformity in rare cases [7]. ...
Facial asymmetry in a crying newborn can be due to a variety of different causes. Neonatal asymmetric crying facies (NACF) is a specific phenotype, which is often underrecognized. It is defined as asymmetry of the mouth and lips with grimacing or smiling, but a symmetric appearance at rest. NACF needs to be differentiated from complete facial palsy in a newborn, which can occur due to traumatic or developmental etiologies. Developmental causes can be present in isolation or may be a part of a recognized syndrome. While asymmetric lower lip depression may be seen in both conditions, complete facial palsy is also associated with upper and mid face deformities. We present a case of NACF and compare it to a case of facial palsy due to perinatal trauma. The purpose of this case series is to clarify some of the confusing nomenclatures and highlight the differences in the physical exam findings, diagnosis, and eventual prognosis of these cases.
... Abnormal coordination patterns between sucking and swallowing were classified into three stages of severity, from, electromyography: (a) light: this suction, however, alternating between sucking and swallowing irregular; (B) Moderate: Suction present with synchronous or random pharyngeal phase; or (c) severe: the language did not perform the rhythmic sucking activity, and inactive or tonic pharyngeal phase. 22 , cites Renault (2001) 30 , as being the source of such data, and in fact, this article describes the facial electromyography in newborns and young infants with congenital facial weakness, which leads us to believe that failed to referencing these normal findings and it is likely, given the similarity in the studies and the authors, the normal data used by Renault et al. (2011) 22 21 Renault et al. (2011) 22 , bring relevant data to corroborate the results found by Baudon et al. (2002) 21 assisting the analysis and interpretation of electrophysiological data of the muscles involved in swallowing. ...
Intramuscular EMG is performed by the doctor, from the fixing needle electrodes or thin wire for the study of isolated muscles or deep muscles. This study aims to identify and describe the contributions of intramuscular electromyography, for the evaluation of swallowing in humans. The search, carried out between April and March 2015, in the databases PubMed, BIREME, AND BANK OF THESES OF CAPES, resulted in 21 references, of which only seven met our inclusion criteria. Selected articles make important contributions to the understanding of the electrophysiological behavior and electrophysiological during swallowing and it is believed that the lack of studies using this tool in humans should be the annoyance and risks caused by the introduction of the needle into the belly muscle and maybe the introduction of a thin wire (fine wire or wire cooper) is more interesting for the aid diagnosis of neuromuscular disorders and nerve that compromise swallowing, the ability to dramatically reduce the annoyance caused by the needle.
... Electrodiagnostic testing can serve to differentiate the 2 etiologies in infants with ACF, revealing that approximately 20% of infants with ACF have a nerve compression etiology and 80% of patients have developmental abnormalities resulting in muscle hypoplasia. 8 Nerve compression as an etiology for ACF in infancy is common as the facial nerve is easily prone to trauma. The marginal mandibular branch is not protected under the mandible in infants as it is in the adult population, but instead it lies on top of the mandible where it is more exposed to compressive injury in both the antepartum and intrapartum period. ...
Objective:
Asymmetric crying facies (ACF) is congenital hypoplasia of the depressor anguli oris muscle characterized by asymmetry of lower lip depression during crying. This has an overall incidence of 0.6%. This study determines the incidence of ACF in a large population of patients with 22q11.2 deletion.
Patients and methods:
A retrospective review of medical records on patients with a confirmed 22q11.2 deletion was undertaken.
Results:
A total of 836 records were reviewed. Of these, 117 (14%) were noted to have ACF on physical examination. Within this latter group, palatal anomalies were common (77%), as was congenital heart disease (78%); however, these numbers did not differ significantly from their known prevalence in the 22q11.2 population.
Conclusions:
We report a 14% incidence of ACF in patients with a 22q11.2 deletion, significantly higher than in the general population. We suggest, therefore, that newborns with ACF be referred for further screening for the 22q11.2 deletion syndrome.
... This combines needle EMG of muscles of the face and oral cavity, blink responses (BRs), and sucking-swallowing EMG during bottle feeding. 13 These techniques have proven useful for diagnosis of congenital facial weakness or malformation 14 and in evaluation of oral and pharyngeal dysfunction in patients with various facial malformation syndromes. 15,16 In patients with PRS, the pathogenesis of dysphagia can be linked to anatomical anomalies of cleft palate, glossoptosis, and associated malformations, 17 and to a neurological disorder of the sucking and swallowing function. ...
We evaluated the role of electromyography (EMG) in assessing orofacial neurological dysfunction in 81 infants with Pierre Robin sequence (PRS).
Needle EMG of muscles of the face, tongue, and soft palate, and blink responses were recorded. A two-channel EMG recorded sucking and swallowing during bottle feeding.
Neurogenic EMG signs were detected in facial or oral muscles in 17 of 24 associated PRS and 1 of 57 isolated PRS cases (P < 0.0001). Soft palate muscles showed low-amplitude traces in 41.4% of patients who required two surgical steps for cleft palate repair and 18.5% of those who required only one step. Regarding EMG study during bottle feeding, patients with moderate or severe abnormalities of oral/pharyngeal coordination required more prolonged enteral feeding than patients with mild abnormalities or normal coordination (P = 0.002).
Combined EMG methods were useful in the treatment of infants with PRS. EMG detection of cranial nerve involvement strongly suggests an associated form of PRS.
... L'électromyogramme confirme l'origine périphérique de la paralysie faciale et contribue à préciser la topographie et la sévérité de la dénervation musculaire. [1] Chez le nouveau né et le nourrisson, le principal retentissement fonctionnel se situe au niveau palpébral où une exposition cornéenne entraîne un risque de kératite qui doit être systématiquement recherchée par un examen ophtalmologique. Des troubles de la succion déglutition ne sont observés que dans les atteintes bilatérales et en particulier le syndrome de Moebius où des paralysies des paires crâniennes V, IX-X et XII peuvent être associées aux paralysies faciales et oculomotrices. ...
Objectif : présenter les avancées thérapeutiques de réhabilitation et de réparation des conséquences fonctionnelles (ophtalmologiques et buccofaciales) et du préjudice esthétique (sourire) des asymétries et diplégies faciales congénitales, et leurs indications au cours de la croissance et à l’âge adulte.
... Such traces show the usual criteria of myopathic EMG signs, but in the context of facial malformations we interpret these EMG findings to be an indication of muscle hypoplasia of developmental origin. Similar facial EMG findings have been reported in a series of patients with congenital facial weakness without dysphagia, including cases of hemifacial microsomia and Goldenhar syndrome [12]. ...
In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns other than isolated Pierre Robin sequence had: (1) needle electromyography (EMG) of muscles of the face, tongue, and soft palate; (2) two-channel EMG during bottle feeding; and (3) esophageal manometry (EM). The results were compared by clinical dysphagia-grading groups and by age at cessation of enteral feeding. Although micrognathia (86%) and cleft or high-arched palate (76%) were common, the key clinical finding that correlated with the likelihood of respiratory complications was glossoptosis (p<0.01). EMG signs of denervation correlated with respiratory complications (p<0.05) and the duration of enteral feeding (p<0.01). EMG during bottle feeding showed disturbed motor organization at the pharyngeal level in 27 of 37 patients. The severity of pharyngeal incoordination correlated with the duration of enteral feeding (p<0.025). All 21 patients examined by EM had dysfunction at the esophageal level. Thus, in the assessment of upper digestive tract dysfunction, our clinical grading system, EMG, and EM yield convergent information that is relevant to the management of dysphagic infants with facial malformations. Much of the information is obtainable only from EMG.
... 23 In 2001, Renault reported the results of electrodiagnostic testing in 172 children with congenital facial weakness referred for diagnosis and treatment. 24 The clinical presentation in 51 cases, was that of NACF, and in 10 (20%) of these 51, the etiology was determined to be perinatal trauma, with testing showing partial denervation of the DAOM, the DLIM, and the mentalis muscles. However, in 41 (80%) of the 51 infants, testing indicated hypoplasia of the DAOM, and in 6 of these infants, there was additional hypoplasia of the DLIM. ...
... Some cases had additional hypoplasia of the DLIM. 24 The literature indicates that NACF due to nerve compression is an isolated abnormality, and reported by some to be predominantly left-sided. Developmental NACF, on the other hand, accord-ing to our calculation from 5 prospective studies, is associated with other anomalies in 9.4% of the cases, and reported by some to be predominantly right-sided. ...
... Parmelee first described this important clue to facial nerve compression in 1931, and called it "malocclusion of the gums." 3 In 2001, Renault also observed this characteristic clinical feature and described it as a "lack of parallelism of the gums" in his patients with his entity, "pseudoparalysis: asymmetry of postural origin." 24 The asynclitism is the result of in-utero pressure of one shoulder against the mandible, which causes upper and medial displacement of the jaw, and often some additional hypoplasia of that side of the mandible. As a result of mandibular flattening, the upper and lower alveolar ridges or gums are no longer parallel. ...
Neonatal asymmetric crying facies, described 75 years ago, is a clinical phenotype resembling unilateral partial peripheral facial nerve paralysis, with an incidence of approximately 1 per 160 live births. The cause is either facial nerve compression or faulty facial muscle and/or nerve development. Spontaneous resolution is expected with the former, but not necessarily with the latter etiology. Approximately 10% of the developmental cases have associated major malformations. Mandibular asymmetry and maxillary-mandibular asynclitism (non-parallelism of the gums) are frequently overlooked visual clues to nerve compression. Ultrasound imaging of facial muscles and electrodiagnostic testing may be useful for differential diagnosis and management.
