Congenital unilateral lower lip palsy: a case-based review.

BACKGROUND: Congenital unilateral lower lip palsy (CULLP), also referred to as congenital asymmetric crying facies (ACF), is a rare condition that causes pronounced depression of the unaffected lower lip when crying, despite symmetric appearance of the mouth and lips at rest. Unlike the acquired form of ACF, CULLP is idiopathic and often involves permanent defect. METHODS AND RESULTS: We present a case-based review of CULLP, including a thorough analysis of the relevant literature and a discussion of the exemplary case of 5-year-old patient presenting with unilateral facial asymmetry resulting from left-sided facial weakness. The patient was diagnosed with ACF at birth, and documentation from a previous neurologic consultation specifies the root cause of the asymmetry as developmental aplasia of the left depressor anguli oris muscle (DAOM). However, there is no record of electrodiagnostic testing or B-scan ultrasound imaging that would support this conclusion, and the patient's dysarthric speech may suggest lower motor neuron involvement. Botox chemodenervation of the right, unaffected side was recommended to deanimate the contralateral lower lip and achieve facial symmetry, in addition to potentially resolving some of the patient's speech difficulties. CONCLUSIONS: There are several approaches, both surgical and non-surgical, to the management and correction of CULLP. These include weakening the muscles of the contralateral side or increasing muscular tension on the ipsilateral side, referred to as deanimation and reanimation procedures, respectively.

Cervico-facial dystonia as depicted in sculpture before its scientific description.

The authors describe a sculpture from Daumier, called "Le Hargneux" (The peevish one), whose physiognomic study evokes hitherto unrecognized cranial-cervical dystonia. It is probably the first representation of dystonia in sculpture, before its scientific identification by Horatio Wood, in 1887.

Frontalis Muscle Asymmetry and Lateral Landmarks.

PURPOSE: To investigate frontalis muscle asymmetry and characterize its lateral interdigitation with the orbicularis oculi muscle. METHODS: After making a mid-coronal incision and bluntly dissecting to the orbital rim, the frontalis muscle was exposed, marked, and photographed. The right and left muscle bellies were analyzed and compared in both pixels and cm ratios generated with NIH ImageJ software. A ratio of ≥1.5 was considered significantly asymmetric. The lateral interdigitation of the frontalis and orbicularis oculi muscles was measured from the supraorbital notch with a metric ruler. Data were analyzed using 2-sample t tests, paired t tests, log scales, and nonparametric tests were performed for sensitivity analyses. A p value of ≤0.05 was considered statistically significant. RESULTS: Fifty-eight hemifaces of 29 Caucasian cadavers were studied for muscle belly asymmetry. Thirty-six hemifaces of 18 Caucasian cadavers (9 males) were dissected for lateral landmarks and average age of these specimens was 73 years (range: 35-91 years). Significant asymmetry in muscle belly area was found in 6/29 (20%) specimens, with the right muscle belly larger in all 6 specimens. On average, the right muscle belly area was 1.23 times that of the left (p = <0.001). The average frontalis-orbicularis interdigitation occurred 3.4 cm lateral to the supraorbital notch. CONCLUSIONS: Significant frontalis muscle belly asymmetry exists in 20% of Caucasians cadavers. The right muscle belly was larger on average and in all cases of significant asymmetry. The frontalis muscle interdigitates with the orbicularis oculi on average 3.4 cm lateral to the supraorbital notch.

Midline Cleft Lip and Bifid Nose Deformity: Description, Classification, and Treatment.

BACKGROUND: Midline facial clefts are rare and challenging deformities caused by failure of fusion of the medial nasal prominences. These anomalies vary in severity, and may include microform lines or midline lip notching, incomplete or complete labial clefting, nasal bifidity, or severe craniofacial bony and soft tissue anomalies with orbital hypertelorism and frontoethmoidal encephaloceles. In this study, the authors present 4 cases, classify the spectrum of midline cleft anomalies, and review our technical approaches to the surgical correction of midline cleft lip and bifid nasal deformities. Embryology and associated anomalies are discussed. METHODS: The authors retrospectively reviewed our experience with 4 cases of midline cleft lip with and without nasal deformities of varied complexity. In addition, a comprehensive literature search was performed, identifying studies published relating to midline cleft lip and/or bifid nose deformities. Our assessment of the anomalies in our series, in conjunction with published reports, was used to establish a 5-tiered classification system. Technical approaches and clinical reports are described. RESULTS: Functional and aesthetic anatomic correction was successfully achieved in each case without complication. A classification and treatment strategy for the treatment of midline cleft lip and bifid nose deformity is presented. CONCLUSIONS: The successful treatment of midline cleft lip and bifid nose deformities first requires the identification and classification of the wide variety of anomalies. With exposure of abnormal nasolabial anatomy, the excision of redundant skin and soft tissue, anatomic approximation of cartilaginous elements, orbicularis oris muscle repair, and craniofacial osteotomy and reduction as indicated, a single-stage correction of midline cleft lip and bifid nasal deformity can be safely and effectively achieved.

Congenital multiple cranial neuropathies: Relevance of orofacial electromyography in infants.

INTRODUCTION: The aim of this study was to assess diagnoses and outcomes of infants with 2 or more cranial neuropathies identified using orofacial electromyography (EMG). METHODS: This retrospective study involved 90 patients. Diagnoses took into account clinical, radiological, and genetic data. EMG examined the orbicularis oculi, genioglossus, and levator veli palatini muscles, and blink responses. To evaluate outcome, neurological disability, respiratory complications, and feeding difficulties were recorded. RESULTS: The patients had malformation syndromes (59), encephalopathies (29), or no underlying disorders (2). Neurogenic EMG signs were detected in a mean of 4 muscles, reflecting a mean of 3 affected nerves. EMG identified a higher number of neuropathies than clinical examination alone (82 vs. 31, facial; 56 vs. 2, pharyngeal; 25 vs. 3, hypoglossal). Poor outcome and death were more frequent when EMG identified ≥4 affected nerves (P = 0.02). CONCLUSION: EMG highlights multiple cranial neuropathies that can be clinically silent in infants with malformation syndromes or encephalopathies.

The Millard Rotation-Advancement Cleft Lip Repair: 50 Years of Modification.

Since its inception in 1955, Millard's rotation-advancement repair has been one of the most popular techniques used in the care of patients with a cleft lip. Over the past half century, Millard's repair has evolved and laid the foundation for many other repair techniques that have followed in its footsteps. This publication compares Millard's rotation-advancement technique to the various repairs used today. The purpose of this article is to lend perspective as to the impact of Millard repair over the past 50 years in the treatment of cleft lip.

Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report.

Asymmetric neonatal crying is a rare minor congenital abnormality caused by unilateral agenesis or hypoplasia of depressor anguli oris muscle and depressor labii inferioris muscle. It is either an isolated clinical finding or one of the clinical findings included in several malformation syndromes linked to a microdeletion within a chromosomal region 22q11.2. Some malformations in that region are associated with serious cardiovascular anomalies. Nowadays, standard diagnostic techniques for detecting aberrations within the chromosomal region 22q11.2 are fluorescence in situ hybridization (FISH) and multiplex ligation probe amplification (MLPA). This short report describes an eutrophic female newborn whose both lip corners are symmetrically positioned while at rest; while crying, left lip corner and left half of the lower lip are falling. She also has partial bilateral syndactyly between second and third toe, open foramen ovale and by ultrasound detected hyperechogenic region in the thalamus and brain parenchyme. Aiming to investigate etiopathogenesis of the newborn asymmetric crying and accompanying minor abnormalities, we have tried to verify or exclude: microdeletion syndrome, TORCH infection and birth injury. Recognising such a paresis soon after the delivery is of great importance and can be helpful in detecting other accompanying anomalies, especially cardiovascular anomalies.

Transversus menti muscle in a thai cadaver / Músculo transversus menti en un cadaver tailandés

In submental and around the mouth areas, the superfacial muscles are considered in surgery of some deformities of mouth angle. Herein, we report a rare case of the Transversus menti muscle (TM) in a Thai 74 year-old male cadaver. This TM originated from both sides of the oblique line of depressor anguli oris and formed as transverse fibers in submental area. Their fiber ran under the chin and was superficial to platysma muscle. The TM was innervated and supplied by mandibular branches of facial nerve and small branches of the submental artery. This report attempted to discuss the possible function and clinical significance of the TM.

Alrededor de la boca y en áreas submentonianas, los músculos superficiales son considerados en la cirugía de algunas deformidades del ángulo de la boca. Este estudio presenta un caso raro de músculo transversus menti (TM), en un cadáver tailandés de sexo masculino de 74 años de edad. El músculo TM se originó a partir de los dos lados de la línea oblicua del músculo depresor del ángulo oral y se formó como fibras transversales en el área submentoniana. Sus fibras se desplazaron debajo del mentón y superficialmente al platisma. El músculo TM estaba inervado e irrigado por ramos mandibulares de nervio facial y pequeñas ramas de la arteria submentoniana. Se discute su posible función y el significado clínico del músculo TM.

Asymmetric crying face in a newborn with isotretinoin embryopathy.

We report a newborn with asymmetric crying face and other anomalies whose mother had taken isotretinoin during the first month of pregnancy. We hypothesize that asymmetric crying face is a finding of retinoic acid embryopathy and results from the intrauterine effects of retinoic acid on the development of the depressor anguli oris muscle or the mandibular branch of the facial nerve.

Buccinator muscle repositioning: a case report.

Anatomical abnormalities are frequently associated with problems. One such abnormality is crestal attachment of the frenum or muscle on the alveolar process. Crestal attachment of buccinator muscle is a rare phenomenon. It may cause various problems in routine oral exercises or restoring the edentulous area. Presented here is a case of abnormal buccinator muscle attachment, which was relocated apically by surgical means using an acrylic stent. The healing was uneventful, and significant apical repositioning was observed. The area was then considered for prosthodontic therapy. A fixed bridge was fabricated and the long-term results of the fixed bridge therapy were assured, because the patient could maintain oral hygiene well after the muscle repositioning operation.

Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate.

Sub-epithelial defects (i.e., discontinuities) of the superior orbicularis oris (OO) muscle appear to be a part of the phenotypic spectrum of cleft lip with or without cleft palate (CL ± P). Analysis of the OO phenotype as a clinical tool is hypothesized to improve familial recurrence risk estimates of CL ± P. Study subjects (n = 3,912) were drawn from 835 families. Occurrences of CL ± P were compared in families with and without members with an OO defect. Empiric recurrence risks were calculated for CL ± P and OO defects among first-degree relatives (FDRs). Risks were compared to published data and/or to other outcomes of this study using chi-square or Fisher's exact tests. In our cohort, the occurrence of CL ± P was significantly increased in families with OO defects versus those without (P < 0.01, OR = 1.74). The total FDR recurrence of isolated OO defects in this cohort is 16.4%; the sibling recurrence is 17.2%. The chance for one or more FDRs of a CL ± P proband to have an OO defect is 11.4%; or 14.7% for a sibling. Conversely, the chance for any FDR of an individual with an OO defect to have CL ± P is 7.3%; or for a sibling, 3.3%; similar to published recurrence risk estimates of nonsyndromic (NS) CL ± P. This study supports sub-epithelial OO muscle defects as being part of the CL ± P spectrum and suggests a modification to recurrence risk estimates of CL ± P by utilizing OO defect information.

Hemifacial microsomia: a clinicoradiological report of three cases.

Hemifacial microsomia is a congenital malformation in which there is deficiency in the amount of hard and soft tissues on one side of the face. It is primarily a syndrome of first and second branchial arches involving underdevelopment of the temporomandibular joint, mandibular ramus, masticatory muscles, ears and occasionally defects in facial nerve and muscles. Here, we report three cases of hemifacial microsomia diagnosed based on clinical and radiographic findings. All three cases had variable presentations ranging from the mildest form that included facial asymmetry and ear deformity to the most severe and unusual form with facial nerve paralysis and spine deformity.

Agenesis of the corrugator supercilii: a benign condition.

We report 2 neonates with frontonasal masses. The frontonasal masses were only present while the neonates were crying. The rest of the general examination and the neurological examination of the neonates were normal. The first patient had an extensive neuroimaging evaluation that included skull radiograph, computed tomography (CT) and magnetic resonance imaging (MRI) of the brain, and ultrasound of the frontonasal mass. The second patient was evaluated with ultrasound of the frontonasal mass. The mother of the second patient had no frontonasal creases and was unable to frown. In both patients, the ultrasonographic studies revealed nonspecific soft tissue thickening in the region of the glabella only while crying. The ultrasonographic findings and the similarity between the mother's findings and those of adult patients receiving botulinum toxin injection to the corrugator supercilii muscle point to the absence of this muscle as the cause of the frontonasal mass in these patients.

Botulinum toxin for the correction of asymmetric crying facies.

The clinical hallmark of asymmetric crying facies (ACF) is a symmetric appearance of the oral aperture and lips at rest, but significant depression of one side of the lower lip with animation (crying or smiling). ACF can resolve spontaneously in the first year of life, but surgical intervention may be required at some point to ensure a good cosmetic outcome. The authors report on the successful use of botulinum toxin type A to achieve temporary facial symmetry in two children with ACF with results lasting up to six months and suggest that such treatments may be helpful in providing more time to consider and/or plan surgical intervention.

Evaluation of secondary functional cheilorhinoplasty during growth of cleft patients with residual lip and nasal deformities.

PURPOSE: The aim of the study was to evaluate the clinical outcomes of secondary functional cheilorhinoplasty of residual lip and nasal deformities caused by muscular deficiency in cleft patients. PATIENTS AND METHODS: During a 4-year period, 31 patients underwent cheilorhinoplasty, including complete reopening of the cleft borders and differentiated mimic muscle reorientation. In 21 patients, remarkable residual clefts of the anterior palate were also closed. Simultaneous alveolar bone grafting was performed in 15 patients. The minimum follow-up was 1 year. Cosmetic features evaluated were spontaneous facial appearance and changes in position of the nasal floor and the philtrum. The width of the alar base was measured. For functional outcomes, deficiency during mimic movements was evaluated, using standardized photographs taken preoperatively and postoperatively. The final results, judged according to defined criteria with several clinical factors, were compared. RESULTS: Cosmetic and functional improvement was achieved in all patients. In young patients (aged 4 to 9 years), the improvements were noteworthy. There were no differences in outcomes between the groups with and without simultaneous grafting, except for unilateral cases with minor muscular deficiency, in whom bone grafting before cheilorhinoplasty led to better results. CONCLUSION: In cases of major muscular deficiency, early cheilorhinoplasty should be performed at age 7 years, without waiting for the usual timing of bone grafting. In minor and moderate cases, the operation can ideally be done in combination with bone grafting.

Anatomical basis for apparent subepithelial cleft lip: a histological and ultrasonographic survey of the orbicularis oris muscle.

OBJECTIVE: To determine if there is an anatomic basis for subepithelial orbicularis oris muscle defects by directly comparing ultrasonographic images of the upper lip with corresponding histological sections obtained from cadavers. METHODS: Ultrasound was performed on the upper lips of previously frozen, unpreserved cadaver heads (n = 32), followed by dissection and sectioning of the upper lips. The ultrasound sequences were scored by a panel of raters, classifying the orbicularis oris muscle as negative, positive, or unknown for the presence of an orbicularis oris discontinuity (subepithelial defect). Based on ultrasound, six lip specimens were chosen for histological sectioning, were stained with hematoxylin-eosin and Gomori trichrome stain, and were evaluated with light microscopy at low (8x) and intermediate (100x) magnification. RESULTS: One cadaver was scored positive for an orbicularis oris muscle discontinuity based on ultrasound; whereas, the remaining cadavers were scored negative. Of the cadavers with negative ultrasound scores, two were noted to have orbicularis oris muscles with "irregular" features (e.g., excessive localized thinning or asymmetry). From histology, the area of discontinuity as visualized on the positively scored ultrasound was characterized by both disorganized orbicularis oris muscle fibers and excess connective tissue within the muscle belly. In contrast, the localized thinning observed on some of the negatively scored ultrasounds was not confirmed by histology. CONCLUSIONS: Abnormalities of the orbicularis oris muscle visualized by ultrasound have an anatomic basis as revealed through histology. Ultrasound is a useful tool for noninvasively identifying discontinuities of the orbicularis oris muscle.

Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases.

Emerging research suggests that subepithelial defects of the upper lip musculature are part of the phenotypic spectrum of cleft lip and/or palate (CL/P) and may represent an occult, subclinical manifestation of the anomaly. The present study investigates whether similar occult lip defects are present in individuals affected with isolated cleft palate (CP). To this end, upper lip ultrasounds of 33 CP cases (12 males, 21 females) were evaluated retrospectively for the presence of discontinuities (i.e., breaks) within the orbicularis oris muscle (OOM). In four CP cases (2 males, 2 females), distinct discontinuities of the OOM were identified. Of the remaining CP individuals, 23 demonstrated normal lip morphology on ultrasound (7 males, 16 females), while, in 6 cases (3 males, 3 females), a definitive evaluation was not possible. As CP and CL/P are traditionally thought to be etiologically distinct, these findings raise the possibility that some CP cases may be misclassified. Such diagnostic errors could have important implications for recurrence risk estimation and studies aimed at discovering etiology. (c) 2008 Wiley-Liss, Inc.