A case of rare isolated agnathia and literature review.

Agnathia is a rare congenital malformation with unknown etiology characterized by absence of the mandible, microstomia, and tongue aplasia, often found to have other anomalies including holoprosencephaly. The purpose of this paper was to describe the symptoms and imaging of a case of isolated agnathia and to conduct a comprehensive literature review of reported patients with isolated agnathia. Case reports of isolated agnathia are very rare, with most infants as stillborn. We report a child's management of isolated agnathia with microstomia and tongue aplasia. A literature review was performed with focus on diagnosis, airway, and feeding management of isolated agnathia. Polyhydramnios was a common pregnancy complication reported in 25 out of the 39 patients in the case study. Five infants were stillborn, while 23 died within the neonatal period. Of the deceased infants within the neonatal period, 19 died within minutes to hours while four died within days to weeks. There are nine patients with agnathia that survived past infancy. The results of this study suggest that isolated agnathia is a rare malformation which requires a multi-disciplinary approach for airway and feeding management.

Integrating hinge axis approximation and the virtual facial simulation of prosthetic outcomes for treatment with CAD-CAM immediate dentures: A clinical report of a patient with microstomia.

This clinical report describes a digital workflow using extraoral digital photographs and volumetric datasets from cone beam computed tomography (CBCT) imaging to create a 3-dimensional (3D), virtual patient with photorealistic appearance. In a patient with microstomia, hinge axis approximation, diagnostic casts simulating postextraction alveolar ridge profile, and facial simulation of prosthetic treatment outcome were completed in a 3D, virtual environment. The approach facilitated the diagnosis, communication, and patient acceptance of the treatment of maxillary and mandibular computer-aided design and computer-aided manufacturing (CAD-CAM) of immediate dentures at increased occlusal vertical dimension.

Cyclopia: isolated and with agnathia-otocephaly complex.

Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malformation of the first branchial arch characterised by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). These two reported cases had in common a single eye and alobar HPE. The first case was live born and the second stillborn. Both mothers did not have antenatal care.

Postburn Microstomia Prevention Using an Appliance Providing Simultaneous Horizontal and Vertical Adjustable Forces.

Microstomia, an abnormally small oral orifice, is a complication of perioral facial burns. In this case, contraction of the circumoral tissues and hypotonia of the musculature is responsible for this microstomia, which can produce aesthetic and functional impairment with eating, swallowing, communication (speech and facial expressions), compromised dental care and maintenance due to limited oral access, social interactions, and psychological well-being. Conservative management involves providing physical resistance to scar contracture, with opposing horizontal and vertical circumoral forces by means of appliances that aim to stretch the commissures and fibrotic muscles. Numerous appliances, either intraoral or extraoral, have been described to prevent or treat microstomia by delivering a static or dynamic stretch horizontally or vertically, with most designed to stretch the mouth horizontally. Finding a comfortable effective way to stretch the mouth vertically has proved to be a challenge. This article describes the fabrication of a dynamic commissural appliance, constructed using acrylic resin and expansion screws, which provide simultaneous horizontal and vertical circumoral forces. This appliance is constructed easily and inexpensively without the need for taking impressions, can be adjusted so that it is almost painlessly inserted, and is progressively activated. It is convenient for use because the patient controls the pressure that is applied by the appliance. Its use in a case is described where the appliance has improved mouth opening and consequently functional outcomes.

Epidermolysis Bullosa Oropharyngeal Severity (EBOS) score: a multicenter development and reliability assessment.

BACKGROUND: Epidermolysis bullosa (EB) is a genetic mucocutaneous disorder characterized by blister formation upon mild trauma. All 4 EB types may show oropharyngeal lesions involving either hard or soft tissues. Currently, there are very few data on EB scoring that include the oropharyngeal cavity. OBJECTIVES: We sought to develop an oropharyngeal severity score that was objective, valid, reliable, reproducible, easy to perform, and appropriate for all EB types. METHODS: In this study, oral medicine specialists developed a new score, the EB Oropharyngeal Severity (EBOS) score. This measured oropharyngeal disease activity (erythema, atrophy, blisters, erosion/ulceration) and structural damage (microstomia, ankyloglossia, scarring phenotype beyond microstomia and ankyloglossia, enamel hypoplasia). It was tested on 92 patients with different types/subtypes of EB, and interobserver and intraobserver reliability were assessed. RESULTS: The EBOS mean total score was 12.9 ± 10.9 (range: 0-34). Both interobserver and intraobserver reliability for total score on all patients with EB were considered excellent (intraclass correlation coefficient 0.94; 95% confidence interval 0.90-0.96 and intraclass correlation coefficient 0.90; 95% confidence interval 0.84-0.94, respectively). Even analyzing each single parameter of the disease activity and structural damage, a substantial to excellent correlation was found in the interobserver (except for 4 sites) and intraobserver reliability. A significant correlation was found between EB types/subtypes and the EBOS median score (P < .001), but not between age and the EBOS mean total score in each group. LIMITATIONS: The sample size was small and the number of EB subtypes was limited. CONCLUSIONS: The EBOS score seems to represent an instrument capable of truly quantifying the oropharyngeal severity in different types/subtypes of EB, demonstrating excellent interobserver and intraobserver reliability.

Oro-palatal dysplasia Bettex-Graf--clinical findings, genetic background, treatment.

Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20mm intercommissural distance allows acceptable function without the need for surgical correction.

Use of the vermilion myomucosal flap with or without the mentolabial skin flap for lower lip reconstruction / Uso do retalho miomucoso do vermelhão associado ou não ao retalho cutâneo mentolabial na reconstrução do lábio inferior

BACKGROUND: Several techniques that have been described for reconstructing the lower lip often produce microstomia, commissure distortion, functional impairment, and decreased sensitivity. A technique for preserving neuromuscular tissue during a single-stage lip reconstruction is reported in this study. This technique involves the use of the vermilion myomucosal advancement flap with or without the mentolabial skin flap. METHODS: This study analyzed 17 male patients with squamous cell carcinoma. The mean patient age was 54.8 years, and incidence of lip defects after resection ranged from 20 percent to 85 percent. RESULTS: Infection, nerve damage, or the requirement for surgical revision was not observed in any patient during the follow-up period of three months. Three patients had microstomia with slight posterior enlargement of the lip. All patients had good sensitivity and adequate sphincter continence. CONCLUSIONS: The use of the vermilion myomucosal flap with or without the mentolabial skin flap resulted in a minimal risk of microstomia or functional incompetence. This procedure is performed in a single surgical stage and has good aesthetic and functional results for reconstruction of up to 80 percent of the lower lip.

INTRODUÇÃO: Várias técnicas têm sido descritas para a reconstrução do lábio inferior, muitas vezes produzindo microstomia, distorção da comissura, incapacitação funcional ou diminuição da sensibilidade. Neste trabalho, é relatada uma técnica com preservação de tecido neuromuscular para reconstrução labial em um único estágio, através do uso de retalho de avanço miomucoso do vermelhão, com ou sem retalho de pele mentolabial. MÉTODO: Foram analisados 17 pacientes do sexo masculino, portadores de carcinoma de células escamosas, com média de idade de 54,8 anos, com defeitos labiais pós-ressecção de 20 por cento a 85 por cento. RESULTADOS: Durante um período de 3 meses de seguimento pós-operatório, nenhum paciente apresentou infecção, lesão nervosa ou necessitou de revisão cirúrgica. Três pacientes apresentaram microstomia, com alargamento discreto posterior do lábio. Todos os pacientes apresentaram boa sensibilidade e continência esfincteriana adequada. CONCLUSÕES: O uso do retalho miomucoso de vermelhão com ou sem retalho de pele mentolabial resultou em risco mínimo de microstomia ou incompetência funcional, sendo realizado em estágio cirúrgico único, além de demonstrar bons resultados estéticos e funcionais para a reconstrução de até 80 por cento do lábio inferior.

Anterolateral thigh adipofascial flap for the restoration of facial contour deformities.

From January 2000 to May 2008, 50 patients with facial contour deformities underwent soft tissue augmentation with 51 anterolateral thigh (ALT) adipofascial flaps. Fifty flaps survived with no complications; partial fat necrosis occurred in one flap. Mean follow-up was 16 months. Flaps ranged from 10 x 6 cm to 20 x 12 cm. Perforators were found in 50 flaps, 43 musculocutaneous perforators (84.3%) and 7 septocutaneous perforators (13.7%), with a mean of 2.5 perforators per flap. In one flap (2.0%), no perforator was found. In this case, we used an anteromedial thigh adipofascial flap using the medial branch of the descending branch of lateral circumflex femoral artery as the vascular pedicle. Relatively symmetric facial contour was achieved in 20 cases. In 30 cases, adjunctive procedures including flap debulking, fat injection, and resuspension were necessary, and 23 patients achieved satisfactory outcomes. We conclude that the ALT adipofascial flap can be successfully elevated and transplanted for the correction of soft tissue facial defects. This flap can provide tissue to fill large defects, and posses the qualities of pliability, an excellent blood supply, ease of suspension and fixation, and minimal morbidity at the donor site.

Reconstruction of cicatricial microstomia and lower facial deformity by windowed, bipedicled deep inferior epigastric perforator flap.

We performed simultaneous facial scar repair and oral aperture open with a windowed, bilateral, bipedicled deep inferior epigastric perforator flap (DIEP flap) in a 20-year-old male patient who had suffered from severe postburn scar of the face and neck in association with serious cicatricial microstomia. DIEP flap is a typical perforator flap that has less donor site morbidity because of a minimal sacrifice of muscles. Since bipedicled DIEP flap can provide the largest skin territory in the lower abdominal wall and ensure a sufficient blood supply to zone IV, it is very suitable for the repair of massive defects of the face and neck. From our challenging case, we learned that bilateral, bipedicled DIEP flap is an excellent option for the repair of large faciocervical defects. Bilateral, bipedicled DIEP flap, which can produce an excellent esthetic and functional outcome, has reliable blood perfusion, provides soft and pliable tissue, and causes the minimal donor-site morbidity.

Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.

OBJECTIVES: We report on a female fetus of 24 weeks gestational age with Fine-Lubinsky syndrome (FLS), representing the 7th case published so far. METHODS: Prenatal ultrasound was performed at 22+1 weeks of gestation and thorough postmortem examination was made after termination of pregnancy. RESULTS: The diagnosis of FLS in the fetus was based on characteristic features that were already apparent in early prenatal life, such as growth deficiency, brachycephaly, flat face with associated dysmorphic signs, microstomia and cataract, while deafness and mental retardation, which are syndrome-specific functional disorders and evident only postnatally, could not be taken into account. CONCLUSIONS: This case demonstrates the diagnostic problems in fetal syndromology if syndrome-specific features are not yet recognizable and additional complications occur that had not been observed in this disorder.

Freeman-Sheldon syndrome: a case report.

BACKGROUND: Freeman-Sheldon Syndrome is a rare craniofacial syndrome that has not been described in the dental literature to date. The main feature of relevance is severe microstomia, which limits access for routine dental care. CASE REPORT: Dental treatment was carried out successfully under local anaesthetic for a young child with Freeman-Sheldon syndrome. A novel coloured compomer material was helpful in the management of the case. CONCLUSION: The importance of early referral of children with rare craniofacial anomalies to Specialist Paediatric Dental services is highlighted.

Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.

Dominant inheritance of cleft palate, microstomia and micrognathia--possible linkage to the fragile site at 16q22 (FRA16B).

We report a family in which a father and his three children are affected with microstomia, micrognathia and partial or complete cleft of the hard and soft palate. The probands were non-identical twins, a boy and a girl, both noted to have the above features soon after birth. Their father was diagnosed with a submucous cleft of the palate at the age of 4 years and their older brother has milder facial features and a bifid uvula. All affected family members were demonstrated to have a fragile site on chromosome 16q22 but otherwise normal karyotypes. Of interest is a previously described family with autosomal dominant inheritance of U-shaped cleft palate, microstomia, micrognathia and oligodontia where all affected members were shown to have the fragile site at 16q22 in a proportion of their cells [Bettex et al. (1998) Eur J Pediatr Surg 8:4-8]. We propose that these two conditions are the same and represent a distinctive syndrome involving aberrant orofacial development that may be linked to the fragile site at 16q22.

Morphometric analyses of the mandible in prepubertal craniofacial microsomia patients treated with an inverted-L osteotomy.

To analyze changes in mandibular form associated with an inverted-L osteotomy and autogenous bone graft, preoperative, early postoperative (EPO), and late postoperative (LPO) lateral cephalographs of 14 children (mean age approximately 9 years) with unilateral craniofacial microsomia (CFM) were scanned and nine mandibular landmarks digitized. Average mandibular geometries, scaled to an equivalent size, were generated using Procrustes superimposition. Cephalometry, Euclidean distance matrix analysis (EDMA), and thin-plate spline (TPS) analyses were carried out on mean mandibular configurations. Cephalometric results showed increases in oblique mandibular length (approximately 9% on average, P < 0.05) and increased ramus height (P < 0.05). Similarly, using EDMA there were also significant differences (P < 0.05) between the mean preoperative, EPO, and LPO configurations. The most demonstrable EPO change in the mandibular configuration using EDMA was increased oblique length (approximately 11%). This improvement depended on ramus oblique lengths increasing by approximately 26%, ramus height increasing by approximately 25%, and mandibular body length increasing by approximately 5%. For TPS analysis, affine and nonaffine changes contributed to the total spline. In all three comparisons the affine transformation showed an antero-inferior rotation of the mandibular configuration. For nonaffine changes the EPO configuration indicated a supero-inferior stretch of the mandibular configuration. The nonaffine LPO changes maintained the supero-inferior stretch of the mandibular configuration. It is concluded that improvements in the lateral facial profile of CFM patients can be achieved using an inverted-L osteotomy, with little relapse approximately 2 years postoperatively.

Changes in soft tissue facial profile of craniofacial microsomia patients: geometric morphometrics.

To analyze changes in the soft tissue profile associated with an inverted L osteotomy, preoperative, early postoperative, and late postoperative lateral cephalographs of 13 children with craniofacial microsomia (mean age 9 +/- 2 years) were scanned, and 11 soft tissue landmarks were digitized (digitization errors insignificant; P > 0.05). Cephalometry, Euclidean distance matrix analysis (EDMA), and thin-plate spline (TPS) analysis were carried out on the mean soft tissue landmark configurations. Cephalometry indicated that there were very few statistically significant differences in mean measurements pre- and postoperatively. In contrast, EDMA determined that there were significant differences (P < 0.05) between mean preoperative, early postoperative, and late postoperative soft tissue configurations, particularly in the labiomental region. Transformation grids obtained from TPS analysis indicated clockwise rotation of the soft tissue configurations with anteroinferior elongation in the labiomental region. Geometric morphometrics indicated that the soft tissue lower facial height increased secondary to the associated underlying skeletal change, improving the profile of patients treated with an inverted L osteotomy of the mandible for the correction of craniofacial microsomia.

Relationship in hypoplasia between the masticatory muscles and the craniofacial skeleton in hemifacial microsomia, as determined by 3-D CT imaging.

The purpose of this study, based on three-dimensional (3-D) computed tomographic (CT) reconstructions, was to evaluate the relation between underdevelopment of masticatory muscles and hypoplasia of the craniofacial skeleton in hemifacial microsomia (HFM). In 25 patients with HFM and 19 control patients the volumes of the masseter, the temporal, and the medial-pterygoid and lateral-pterygoid muscles were measured on the basis of CT scans, using three-dimensional segmentation and voxel addition. The size and shape of the craniofacial structures were classified, using three-dimensional imaging based on CT scans. Contiguous 1.5-mm computed tomography scans were made with a Philips Tomoscan 350 and processed by a Cemax 1500X 3-D workstation. Using the Pearson product moment correlation coefficient, the Pruzansky/Kaban classification system, the new Craniofacial Deformity Scoring System, Cranial Deformity Scoring System, and Mandibular Deformity Scoring System (MDS) demonstrated correlation coefficients with the "masseter muscle percentage" varying from 0.71 to 0.81 (P < 0.05), with the medial pterygoid muscle percentage correlation coefficient varying from 0.43 to 0.56 (P < 0.05), with the lateral pterygoid muscle percentage correlation coefficient varying from 0.55 to 0.61 (P < 0.05), and with the temporal muscle percentage correlation coefficient varying from 0.67 to 0.84 (P < 0.05). The normal right/left difference in volume of the masticatory muscles of the control patients, calculated as a percentage of the total, demonstrated small differences of 3.4% to 4.8%. Bony malformations are associated with underdevelopment of the masseter and the temporal muscles, and demonstrate a tendency toward a clear relationship. The degree of muscular underdevelopment of the different muscles of mastication in one patient could vary widely. The normal right/left difference of the masticatory muscles of the control patients is minimal. The volume of the masticatory muscles of the non-affected side does not demonstrate a compensatory effect in patients with HFM.