ABSTRACT
Introducción: La discrepancia transversal de las arcadas es un problema esquelético poco estudiado en personas con necesidad de tratamiento ortodóncico quirúrgico. Objetivo: Caracterizar a pacientes con discrepancia negativa transversal del maxilar y necesidad de tratamiento por cirugía ortognática. Métodos: Se realizó un estudio descriptivo de corte transversal en 25 expedientes clínicos de pacientes que acudieron al servicio de cirugía maxilofacial del Hospital Clínico Quirúrgico Hermanos Ameijeiras, con discrepancia negativa transversal del maxilar y necesidad de cirugía ortognática entre enero de 2016 y enero de 2020. Se estudiaron los casos por medio de variables cualitativas divididas en epidemiológicas, características faciales y mediciones dentarias. Para el análisis se confeccionaron cuadros estadísticos y como medidas de resumen se utilizaron frecuencias absolutas y relativas. Resultados: La frecuencia de la discrepancia negativa del maxilar fue de 13,3 por ciento. Los pacientes de piel blanca fueron los más afectados (80 por ciento) y el principal motivo de consulta fue estético (68 por ciento). La asimetría del tercio inferior y el perfil cóncavo estuvieron presentes en el 44 por ciento y 36 por ciento de los casos respectivamente. Se observó alta frecuencia de pacientes con el tercio inferior aumentado (76 por ciento), mordida cruzada posterior (48 por ciento), mordida abierta anterior (75 por ciento), apiñamiento en la arcada inferior (63,3 por ciento) y lingualización del incisivo inferior (72 por ciento). Conclusiones: La discrepancia negativa transversal del maxilar es frecuente en personas con necesidad de cirugía ortognática y con gran afectación estética. Se observó mayor predisposición a padecerla en pacientes de piel blanca(AU)
Introduction: Transverse discrepancy of the arches is a skeletal problem not sufficiently studied in persons requiring surgical orthodontic treatment. Objective: Characterize patients with negative transverse maxillary discrepancy requiring surgical orthognathic surgery. Methods: A descriptive cross-sectional study was conducted of 25 medical records of patients attending the maxillofacial surgery service at Hermanos Ameijeiras Clinical Surgical Hospital with negative transverse maxillary discrepancy requiring orthognathic surgery from January 2016 to January 2020. The cases were studied with qualitative variables divided into epidemiological, facial features and dental measurements. Analysis was based on statistical charts. The summary measurements used were absolute and relative frequencies. Results: The frequency of negative maxillary discrepancy was 13.3 percent. White skin patients were more commonly affected (80 percent). The main concern was aesthetic (68 percent). Lower third asymmetry and a concave profile were present in 44 percent and 36 percent of the cases, respectively. A high frequency was observed of patients with an augmented lower third (76 percent), posterior crossbite (48 percent), anterior open bite (75 percent), lower arch crowding (63.3 percent) and lower incisor lingualization (72 percent). Conclusions: Negative transverse maxillary discrepancy is common among patients requiring orthognathic surgery for large aesthetic alterations. White skin patients were found to be more prone to present this disorder(AU)
Subject(s)
Humans , Orthognathic Surgery/methods , Jaw Abnormalities/etiology , Surgery, Oral , Medical Records , Cross-Sectional StudiesABSTRACT
Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.
Subject(s)
Blepharoptosis/etiology , Eye Abnormalities/complications , Heart Defects, Congenital/etiology , Jaw Abnormalities/etiology , Nervous System Diseases/etiology , Optic Disk/abnormalities , Anisometropia/etiology , Anisometropia/physiopathology , Blepharoptosis/diagnosis , Blepharoptosis/physiopathology , Child , Esotropia/etiology , Esotropia/physiopathology , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/physiopathology , Humans , Jaw Abnormalities/diagnosis , Jaw Abnormalities/physiopathology , Male , Nervous System Diseases/diagnosis , Nervous System Diseases/physiopathology , Reflex, AbnormalABSTRACT
RESUMEN: Las anomalías dentomaxilares (ADM) constituyen un problema de salud pública en Chile, lo que genera la necesidad de un diagnóstico sistemático y la asignación de prioridades de tratamiento. Las ADM que afectan la estética pueden constituir una barrera para la inserción social de los adolescentes. El Dental Aesthetic Index (IED), es un instrumento que permite jerarquizar la necesidad de tratamiento de las ADM. El propósito de esta investigación fue caracterizar las ADM, necesidad de tratamiento a través de IED y auto-percepción estética en escolares de 12 a 15 años. Estudio de Prevalencia en adolescentes de 12 a 15 años, de la ciudad de Viña del Mar. El criterio de exclusión fue tratamiento ortodóncico previo. Se seleccionaron 204 sujetos mediante asignación uniforme con un nivel de confianza de 95 %. Variables recogidas: Edad, tipo de establecimiento educacional, sexo, percepción estética y IED por componentes. La prevalencia según IED fue de 63 % [56 % - 70 %]. La necesidad de tratamiento fue 44,2 % electivo, 31,01 % altamente deseable y 24,81 % obligatorio y prioritario. El IED Comunitario dio 29.5. Se encontró una relación significativa entre IED y percepción estética con un p-valor: 0,006 (Rho: 0,343). La prevalencia de anomalías dentomaxilares medido a través del indicador IED alcanza el 63 % y el IED comunitario de 29,54 % afirmando que el grupo "requiere tratamiento electivo por ADM definida"; en los establecimientos particulares está subestimado pues algunos casos ya han sido tratados con anterioridad a esta investigación.
ABSTRACT: Dentomaxillary anomalies are a public health problem in Chile, resulting in the need for screening and prioritization of treatment. Dentomaxillary anomalies affecting the aesthetics can be a barrier to social integration of adolescents. The Dental Aesthetic Index (DAI) is an instrument to prioritize the need for treatment of malocclusions. The purpose of this research was to characterize the malocclusions, orthodontic treatment needs and esthetic self-perception in schoolchildren from 12 to 15 years through DAI. Prevalence Study in 12 to 15 year-old adolescents from Viña del Mar. The exclusion criteria was previous orthodontic treatment. The sample was 204 subjects selected by uniform allocation with a confidence level of 95 %. Variables included age, type of educational establishment, sex, aesthetic perception and DAI by component. Prevalence of dentomaxillary anomalies by DAI was 63 % [56 % - 70 %], Treatment needs were 44.2 % treatment elective, 31.01 % highly desirable and 24.81 % mandatory. The Community's DAI was 29.5. The relationship between DAI and aesthetic perception was significant (p-value: 0.006; Rho: 0.343). The prevalence of dento-maxillary anomalies measured by DAI reaches 63 % and the communal DAI was 29.54 stating that the group "requires elective treatment for definite malocclusion"; in private schools, it is underestimated because some cases had already been treated prior to this investigation.
Subject(s)
Humans , Male , Female , Adolescent , Tooth Abnormalities/etiology , Jaw Abnormalities/etiology , Malocclusion/etiology , Orthodontics , Tooth Abnormalities/physiopathology , Tooth Abnormalities/epidemiology , Chile/epidemiology , Prevalence , Esthetics, Dental , Jaw Abnormalities/physiopathology , Jaw Abnormalities/epidemiology , Malocclusion/physiopathology , Malocclusion/epidemiologyABSTRACT
The anadromous allis shad Alosa alosa has suffered dramatic population declines throughout Europe and is currently considered as endangered throughout its entire distribution range. In order to reestablish allis shad in the River Rhine, which formerly housed one of the largest and most important populations, an EU-LIFE Project 'The re-introduction of allis shad in the Rhine system' was started in 2007. In course of the LIFE+ Projects, allis shad larvae bred from genitor fish of the Gironde-Garonne-Dordogne population in France were reared in a pilot ex situ stock plant pilot facility in Aßlar, Germany. At an age of 1-2 months, about 100% of these fish developed approximately 0.5- to 0.8-cm large, fluid-filled, transparent cysts in conjunction with the upper jaw. The performed microbiological, virological, parasitological and histological examinations did not detect any infectious agents. Possible causative agents are discussed with regard to environmental factors and the nutrition of larvae. In conclusion, the observed malformations are considered a sign for a severe health problem and therefore a risk for the successful breeding of allis shad in aquaculture.
Subject(s)
Fish Diseases/epidemiology , Fishes/abnormalities , Jaw Abnormalities/veterinary , Maxilla/abnormalities , Animals , Aquaculture , Fish Diseases/etiology , France/epidemiology , Germany/epidemiology , Jaw Abnormalities/epidemiology , Jaw Abnormalities/etiologyABSTRACT
Dentofacial developmental abnormalities have been reported in head and neck rhabdomyosarcoma (HNRMS) patients treated with conventional radiotherapy technique and chemotherapy. This current study investigates dentofacial long-term effects among HNRMS survivors managed with intensity-modulated radiotherapy (IMRT) and chemotherapy. In general, IMRT is a more effective 3D-conformal radiotherapy technique, which delivers high doses of radiation to the tumor target while minimizing doses received by the surrounding normal tissues. The medical records and radiographs of thirteen patients were reviewed to identify the following: 1. Facial asymmetry and jaw hypoplasia. 2. Effects on the dental tissue causing tooth agenesis/hypodontia, root agenesis/stunting/malformation, and/or enamel hypoplasia. 3. Trismus, hyposalivation/xerostomia. Seven patients presented with facial asymmetry and jaw hypoplasia, 9 patients presented with effects on the dental tissue [root agenesis/stunting/malformation (9), tooth agenesis/hypodontia (7) and enamel hypoplasia (3)] and 7 patients developed trismus and /or xerostomia. All patients with facial asymmetry and jaw hypoplasia also developed dental abnormalities. Patients with dentofacial developmental abnormalities were ≤7 years of age at treatment. Our study shows that dentofacial developmental abnormalities are still a burden in the era of IMRT and as prognosis of childhood malignancy improves and more patients survive, these late dentofacial sequelae among childhood cancer survivors will become more common. Dental oncologists should be integral members in the management of children with head and neck cancers.
Subject(s)
Chemoradiotherapy/adverse effects , Facial Asymmetry , Head and Neck Neoplasms , Jaw Abnormalities , Rhabdomyosarcoma , Child, Preschool , Dentofacial Deformities , Facial Asymmetry/etiology , Facial Asymmetry/mortality , Facial Asymmetry/prevention & control , Female , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/therapy , Humans , Infant , Jaw Abnormalities/etiology , Jaw Abnormalities/mortality , Jaw Abnormalities/prevention & control , Male , Rhabdomyosarcoma/mortality , Rhabdomyosarcoma/therapy , Time FactorsABSTRACT
La artritis reumatoidea juvenil (ARJ) es una enfermedad inflamatoria autoinmune que se presenta en niños menores de 16 años. Es de curso crónico, etiología desconocida, y afecta sobre todo las articulaciones, como la temporomandibular (ATM). El daño de la ATM puede ocasionar: alteraciones en el crecimiento facial (micrognatia), maloclusión clase II, mordida abierta anterior, desviaciones laterales, erosiones óseas, destrucción del cón-dilo, oclusión disfuncional y alteración de la estética facial, entre otras consecuencias. La posición oclusal neurofisiológica lograda por medio de elementos electrónicos, como el Transcutaneus Electrical Neural Stimulation (TENS), y mantenida por el Dispositivo Intaroral (DIO) podría posibilitar la remodelación de la cabeza del cóndilo, en pacientes en crecimiento, en los que la enfermedad se halla controlada, regulando así también la sintomatología dolorosa...
Subject(s)
Humans , Adolescent , Female , Child , Temporomandibular Joint/physiopathology , Arthritis, Juvenile/complications , Mandible/growth & development , Temporomandibular Joint Disorders/etiology , Age and Sex Distribution , Jaw Abnormalities/etiology , Arthritis, Juvenile/classification , Arthritis, Juvenile/drug therapy , Facial Asymmetry/etiology , Mandibular Condyle/growth & development , Transcutaneous Electric Nerve Stimulation/methods , Physical Therapy Modalities/methods , Occlusal SplintsABSTRACT
BACKGROUND: Patients with congenital superior oblique palsy tend to adopt a head tilt to the contralateral side to maintain binocular single vision. It has long been recognised that facial asymmetries may be caused by a head tilt. The aim of this study was to describe the effect of habitual head tilt due to congenital superior oblique palsy on dental occlusion. PATIENTS AND METHODS: The study was designed as a descriptive cohort study. Ten patients with congenital superior oblique palsy (3 female, 7 male; mean age 51.7 (y) ± 15.8 SD, ranging from 19 to 69 (y)) underwent orthodontic examination. Orthodontic findings and values for vertical, torsional and horizontal deviation measured with the Harms tangent screen and stereopsis using a random dot test were compared. RESULTS: Three orthodontic parameters were found to correlate significantly or at least as trend with orthoptic parameters. Midline deviation of the upper jaw to the face (rho = 0.623; p = 0.054) and anterior positioning of upper first molar in the sagittal plane (rho = 0.594; p = 0.07) correlate with the vertical deviation; overbite correlates with horizontal deviation measured in the primary position (rho = 0.768; p = 0.016). CONCLUSIONS: In this small study, three orthodontic parameters correlated with orthoptic findings in patients with congenital superior oblique palsy. Further studies are needed to establish whether congenital superior oblique palsy is more frequent in patients exhibiting abnormal values of these orthodontic parameters.
Subject(s)
Jaw Abnormalities/diagnosis , Jaw Abnormalities/etiology , Oculomotor Muscles/pathology , Ophthalmoplegia/complications , Ophthalmoplegia/diagnosis , Tooth Abnormalities/diagnosis , Tooth Abnormalities/etiology , Adult , Aged , Female , Humans , Male , Middle Aged , Reproducibility of Results , Sensitivity and Specificity , Young AdultABSTRACT
Tooth alterations of 281 rabbits from 10 different breeds were evaluated, starting at the age of three weeks until they were fully grown. All rabbits were kept in an outdoor facility, fed with a pelleted diet and had free access to water and hay. The most common finding in 3182 clinical examinations was a gap between the mandibular incisors (38 per cent). Skull X-rays from 4 adult breeding rabbits, 15 offspring with clinical signs of dental disease and 12 clinically healthy siblings were assessed by two different methods using cephalometric distances and anatomical reference lines. Repeatabilities of cephalometric distances were mostly low and no significant associations to tooth health were found. The anatomical reference lines revealed dental findings even in rabbits that were graded as tooth healthy in previous clinical examinations. On the basis of the demonstrated age-dependent development of tooth and jaw malformations a first examination and selection at the age of 12 weeks can be recommended. Also genetic aspects for tooth and jaw malformations were considered. The estimated heritability for brachygnathia superior was 0.254 ± 0.169 for all examinations and 0.105 ± 0.092 comprising the last examination of each rabbit when fully grown.
Subject(s)
Gene-Environment Interaction , Jaw Abnormalities/etiology , Rabbits , Tooth Abnormalities/etiology , Animal Feed , Animals , Female , Jaw Abnormalities/genetics , Male , Physical Examination/veterinary , Rabbits/genetics , Radiography , Skull/diagnostic imaging , Tooth Abnormalities/geneticsABSTRACT
Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.
Subject(s)
Abnormalities, Multiple , Craniofacial Abnormalities , Developmental Disabilities/physiopathology , Fingers/abnormalities , Jaw Abnormalities/pathology , Limb Deformities, Congenital/pathology , Mandible/abnormalities , Tooth Abnormalities/pathology , Abnormalities, Multiple/pathology , Abnormalities, Multiple/physiopathology , Child, Preschool , Craniofacial Abnormalities/complications , Craniofacial Abnormalities/pathology , Craniofacial Abnormalities/physiopathology , Developmental Disabilities/etiology , Female , Fingers/pathology , Humans , Jaw Abnormalities/etiology , Limb Deformities, Congenital/complications , Limb Deformities, Congenital/etiology , Limb Deformities, Congenital/physiopathology , Mandible/pathology , Tooth Abnormalities/etiologyABSTRACT
BACKGROUND: Non-syndromic congenital cleft lip and jaw (CLJ) is a condition reported in several cattle breeds, but a detailed classification system does not exist for cattle. The objective of the present study was to describe the phenotypic variability of this orofacial malformation in Vorderwald × Montbéliarde cattle. For this purpose, a classification system of CLJ was developed on examination of five orofacial structures: (1) lips, (2) the processus (proc.) nasalis of the os incisivum, (3) the dental plate with adjacent segments of the hard palate, (4) the facial bones (os incisivum, os maxillare, os nasale and os palatinum) and (5) the mandibles. Each structure was given a score reflecting the degree of the lesion from absent (score 0) to severe. RESULTS: Nine cases were included in the study and they shared absence of the abaxial rostral part of the processus (proc.) nasalis of the os incisivum, partial loss of the rugae palatinae and the dental plate. A sigmoid curvature of the rostral lower jaw as well as a lateral deviation of the face and rostral lower jaw was highly variable in their expression. These deformations were present in eight of nine cases. In addition to the complete CLJ, three animals had an incomplete CLJ on the contralateral site with variable defects of the rostral part of the proc. nasalis of the os incisivum. CONCLUSIONS: A complete CLJ is obviously accompanied by a loss of parts of the proc. nasalis of the os incisivum. Extent and localization of the missing parts of the proc. nasalis were similar in all cases. A precise classification of the various CLJ forms is necessary.
Subject(s)
Cattle Diseases/classification , Jaw Abnormalities/classification , Animals , Cattle , Cattle Diseases/etiology , Cattle Diseases/pathology , Cleft Lip/classification , Cleft Lip/etiology , Cleft Lip/pathology , Female , Jaw Abnormalities/etiology , Jaw Abnormalities/pathology , MaleABSTRACT
Os toros palatinos e mandibulares são distúrbios do desenvolvimento do tipo anomalia de forma, com manifestação tardia no crescimento e maturação dos maxilares. Os casos familiares e a persistência dos toros com a idade e em desdentados lhe atribuem uma origem genética e dificultam a sua interpretação como uma resposta adaptativa à sobrecarga oclusal, ao bruxismo e outros fatores externos: os toros não são hiperplasias ou hipertrofias adaptativas. Os toros são protuberâncias ósseas sem cápsula fibrosa, o que os diferencia dos osteomas e lhes tira a natureza neoplásica, mesmo que benigna, especialmente porque também não apresentam crescimento contínuo e sem controle por parte do organismo. O tamanho dos toros se estabiliza no final do crescimento dos maxilares, ao redor dos 22 a 24 anos. Os toros são constituídos de osso normal, do ponto de vista funcional e estrutural, e podem ser utilizados como sítio de origem de transplante ósseo autógeno para outros locais, ou como sede de implantes osseointegráveis, se houver conveniências clínicas para tais procedimentos...
Torus palatinus and torus mandibularis are developmental anomalies of shape that become late manifest during growth and maturation of the jaws. Family history and the constant presence of tori with age and among edentulous patients attach a genetic origin to them and hinder their clinical interpretation as an adaptive response to occlusal overload, grinding and other external factors: tori are not a form of hyperplasia or adaptive hypertrophy. They are bone protuberances without a fibrous capsule, which differentiates them from osteomata and frees them from a neoplastic nature, albeit benign, especially because they do not grow continuously and uncontrollably in ones organism. The size of tori stabilizes by the end of maxillary growth, at around the age of 22 to 24 years. They are composed of normal bone, from a functional and structural perspective, and might be used as autograft harvesting site or osseointegrated implant placement site within clinically acceptable conditions...
Subject(s)
Humans , Male , Female , Mandible/abnormalities , Maxilla/abnormalities , Facial Bones/abnormalities , Palate/abnormalities , Jaw Abnormalities/diagnosis , Jaw Abnormalities/etiologyABSTRACT
La artritis reumatoidea juvenil (ARJ) es una enfermedad inflamatoria autoinmune en niños menores de 16 años. Es de curso crónico, etiología desconocida y afecta sobre todo las articulaciones, como la temporomandibular (ATM). El compromiso de la ATM puede ocasionar alteraciones en el crecimiento facial (micrognatia), maloclusión clase II, mordida abierta anterior, desviaciones laterales, erosiones óseas, destrucción del cóndilo, oclusión disfuncional y alteración de la estética facial, entre otras consecuencias. La posición oclusal neurofisiológica lograda por medio de elementos electrónicos, como el Transcutaneous Electrical Neural Stimulation (TENS), y mantenida por el dispositivo intraoral (DIO), posibilitaría la remodelación de la cabeza del cóndilo, en pacientes en crecimiento, en los que la enfermedad se halla controlada, controlando así también la sintomatología dolorosa. (AU)
Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Jaw Abnormalities/etiology , Arthritis, Juvenile/complications , Temporomandibular Joint/pathology , Arthritis, Juvenile/classification , Physical Therapy Modalities , Diagnosis, Differential , Anti-Inflammatory Agents/therapeutic use , Magnetic Resonance Imaging , Clinical Protocols , Patient Care Team , Transcutaneous Electric Nerve StimulationABSTRACT
La artritis reumatoidea juvenil (ARJ) es una enfermedad inflamatoria autoinmune en niños menores de 16 años. Es de curso crónico, etiología desconocida y afecta sobre todo las articulaciones, como la temporomandibular (ATM). El compromiso de la ATM puede ocasionar alteraciones en el crecimiento facial (micrognatia), maloclusión clase II, mordida abierta anterior, desviaciones laterales, erosiones óseas, destrucción del cóndilo, oclusión disfuncional y alteración de la estética facial, entre otras consecuencias. La posición oclusal neurofisiológica lograda por medio de elementos electrónicos, como el Transcutaneous Electrical Neural Stimulation (TENS), y mantenida por el dispositivo intraoral (DIO), posibilitaría la remodelación de la cabeza del cóndilo, en pacientes en crecimiento, en los que la enfermedad se halla controlada, controlando así también la sintomatología dolorosa.
Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Jaw Abnormalities/etiology , Temporomandibular Joint/pathology , Arthritis, Juvenile/complications , Anti-Inflammatory Agents , Arthritis, Juvenile/classification , Clinical Protocols , Diagnosis, Differential , Magnetic Resonance Imaging , Patient Care Team , Physical Therapy Specialty , Transcutaneous Electric Nerve StimulationSubject(s)
Blepharoptosis/physiopathology , Heart Defects, Congenital/physiopathology , Jaw Abnormalities/physiopathology , Nervous System Diseases/physiopathology , Blepharoptosis/etiology , Child , Heart Defects, Congenital/etiology , Humans , Jaw Abnormalities/etiology , Male , Nervous System Diseases/etiology , Reflex, Abnormal , Video RecordingABSTRACT
Cleido-cranial dysplasia, often referred to as Scheuthauer-Marie-Sainton syndrome, is an autosomal dominant disorder of the musculo-skeletal system. Patients with cleido-cranial dysplasia are characterized by short stature, frequent varus or valgus hip, kyphoscoliosis, underdevelopment of the scapulas and the sternum, incorrect number of ribs. The most characteristic feature is unilateral or bilateral, partial or total underdevelopment of clavicles. Mental development is not affected in this syndrome. Malocclusion, occlusal irregularities, multiple supernumerary teeth, impacted teeth, and persistent milk teeth are found in the stomatognathic system. Teeth often have abnormal anatomy. Gothic palate, cleft hard and soft palate are diagnosed. The aim of this paper is to present a case of a 12-year-old boy diagnosed with irregularities in the masticatory system involving an additional number of retained teeth. The boy was referred by an orthodontist for surgical and orthodontic team therapy. The case presented confirms the observations of other authors that only the multi-specialty collaboration of a pediatrician, a geneticist, an orthopedist, an orthodontist, a maxillofacial surgeon, an implant prosthetic surgeon and a physiotherapist can provide proper diagnosis and treatment.
Subject(s)
Cleidocranial Dysplasia/complications , Jaw Abnormalities/diagnostic imaging , Jaw Abnormalities/etiology , Maxilla/physiopathology , Tooth, Supernumerary/etiology , Adolescent , Cleidocranial Dysplasia/diagnostic imaging , Humans , Jaw Abnormalities/surgery , Male , Oral Surgical Procedures , Radiography , Tooth Extraction , Tooth, Impacted/etiology , Tooth, Supernumerary/diagnostic imaging , Treatment OutcomeABSTRACT
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the presence of cutaneous neurofibromas, multiple cafd-au-lait spots and pigmented nodules of the iris known as Lisch nodules. In some cases, the diagnosis can be made at birth while in others the diagnosis is made later in life based on the appearance of additional criteria. We describe radiographic abnormalities of the mandible in a young adult male with NF1.
Subject(s)
Jaw Abnormalities/etiology , Mandible/abnormalities , Neurofibromatosis 1/complications , Humans , Jaw Abnormalities/pathology , Male , Mandibular Neoplasms/etiology , Nerve Sheath Neoplasms/etiology , Young AdultABSTRACT
We report the case of a 5-year-old boy with multiple congenital anomalies, including ptosis, polydactyly, ventricular septal defect, epilepsy, and intellectual deficits. The patient presented with synkinetic eyelid movements accompanying jaw and ocular movements, including Marcus-Gunn phenomenon (eyelid elevation at mouth opening) in the right eye, inverse Marcus-Gunn phenomenon (aggravation of ptosis at mouth opening) in the left eye, and unilateral eyelid elevation on each side during ipsilateral abduction. This suggests that the different types of synkinesia may represent a common etiology of aberrant innervations and/or reflex phenomena of the cranial nerves caused by a specific genetic defect.