ABSTRACT
Abstract Introduction: goldenhar syndrome is a rare congenital syndrome that affects the craniofacial morphogenesis. It is a complex syndrome, with heterogeneous presentation which the diagnosis can still be performed in the intrauterine through morphological ultrasound. Description: a case report of a 4-year-old male patient diagnosed with Goldenhar syndrome, along with its clinical presentation, diagnostic investigation and follow-up. Discussion: the follow-up on these patients remains a challenge, since it can affect different systems and with different presentations. The earlier the diagnosis is performed, the greater the patient's chances of having a favorable prognosis with multidisciplinary stimulation. The objective of this article is to contribute to the medical literature, in order to assist in the diagnosis and management of future cases.
Resumo Introdução: a síndrome de Goldenhar é uma síndrome congênita rara que afeta a morfogênese craniofacial. Trata-se de uma síndrome complexa, de apresentação heterogênea, cujo diagnóstico pode ser realizado ainda intra-útero através do ultrassom morfológico. Descrição: relato de caso de um paciente do sexo masculino de quatro anos, com diagnóstico de síndrome de Goldenhar, sua apresentação clínica, a investigação diagnóstica e seguimento. Discussão: o acompanhamento desses pacientes continua sendo um desafio, já que pode acometer diversos sistemas e com apresentação diversa. O diagnóstico e a estimulação multiprofissional precoce, podem levar a maiores chances de um prognóstico favorável. O objetivo deste trabalho é contribuir para a literatura médica, de forma a auxiliar no diagnóstico e conduta perante futuros casos.
Subject(s)
Humans , Male , Child, Preschool , Prenatal Care , Prenatal Diagnosis , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/diagnostic imagingABSTRACT
Deformational plagiocephaly (DP) (also referred to as positional plagiocephaly) has long posed challenges for plastic surgeons because it is difficult to differentiate from several other diseases, such as unilateral coronal synostosis, hemifacial microsomia, and unilateral lambdoidal craniosynostosis. These diseases can actually masquerade as DP or vice versa. Only in recent years has the differential diagnosis among these diseases become possible through improved imaging modalities, such as computed tomography, and a greater understanding of their pathophysiology. Herein, we report a rather rare, yet severe, form of DP that can easily be confused with the aforementioned diseases.
Subject(s)
Humans , Blepharoplasty , Craniosynostoses , Diagnosis, Differential , Facial Asymmetry , Goldenhar Syndrome , Plagiocephaly , Plagiocephaly, Nonsynostotic , Plastics , SurgeonsABSTRACT
El manejo de la vía aérea representa un reto constante en la práctica de la anestesiología pediátrica, más aun en los pacientes que presentan vía aérea difícil anticipada como son los pacientes pediátricos con malformaciones craneofaciales. En paciente con vía aérea difícil como lo son los pacientes con malformaciones craneofaciales se considera el uso de fibroscopia flexible como el gold standard en la intubación, sin embargo la traqueostomía es una opción que debe considerarse en todos los casos de vía aérea difícil. A continuación se presenta una revisión bibliográfica en la que se expone el manejo de la vía aérea dificil comprendiendo las variaciones anatómicas y fisiológicas como las que se presentan en los pacientes con síndrome de Goldenhar y síndrome Nager.
Airway management represents a constant challenge in the practice of pediatric anesthesiology, even more so in patients who present difficult airways as are pediatric patients with craniofacial malformations. In patients with difficult airways such as patients with craniofacial malformations, the use of flexible fibroscopy as the gold standard in intubation is considered, but tracheostomy is an option that should be considered in all cases of difficult airway. The following is a bibliographic review in which the management of the airway is difficult, including anatomical and physiological variations such as those present in patients with Goldenhar syndrome and Nager syndrome.
Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Craniofacial Abnormalities , Airway Management , Goldenhar Syndrome , AnesthesiaABSTRACT
RESUMO Os autores apresentam um caso de síndrome de Goldenhar, com seus aspectos característicos e variações, observando uma criança do sexo masculino de 4 anos de idade no Serviço de Oftalmologia do Hospital São José na cidade de Teresópolis (RJ). O diagnóstico foi concluído devido às alterações externas e internas do paciente após ter sido avaliado pela pediatria, genética, otorrinolaringologia e oftalmologia. O espectro óculo-aurículo-vertebral (EOAV) conhecida como Síndrome de Goldenhar é uma condição rara, complexa e fenotipicamente variável. De origem ainda desconhecida é caracterizada por cistos dermóides epibulbares, apêndices auriculares e hipoplasia mandibular. Objetivamos com este relato de caso, dada a raridade desta síndrome e variedades do espectro de apresentação, aumentar o conhecimento da classe médica sobre este assunto, para facilitar seu reconhecimento e auxiliar condutas perante casos futuros.
ABSTRACT The authors present a case of Goldenhar syndrome, with its characteristic features and variations. A male child of four years old at the Ophthalmology Service, Hospital São José The diagnosis was completed due to external and internal changes of the patient, after being evaluated by pediatrics, genetics, otolaryngology and ophthalmology.The oculoauriculovertebral spectrum (OAVS) known as Goldenhar Syndrome is a rare, complex and phenotypically variable condition, of still unknown origin is characterized by dermoid cysts epibulbar, auricular appendices and mandibular hypoplasia. We aim to case report, given the rarity of this syndrome and varieties of presentation spectrum, increase knowledge of the medical profession on this subject, to facilitate recognition and help conduct before future cases.
Subject(s)
Humans , Male , Child, Preschool , Corneal Ulcer/diagnosis , Dermoid Cyst/diagnosis , Dermoid Cyst/surgery , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/surgeryABSTRACT
SUMMARY Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.
RESUMO Objetivo: descrever os principais achados clínicos de uma coorte de pacientes com a displasia óculo-aurículo-vertebral (OAV). Método: revisão de prontuários médicos dos pacientes com diagnóstico de OAV no período de 1990 a 2010, acompanhados em um centro de genética médica. Resultados: foram incluídos no estudo 41 pacientes. A média de idade ao diagnóstico foi de 2 anos e 10 meses (34,4±48,8 meses) e a proporção de pacientes do sexo feminino foi de 53,7%. A média de idade dos pais ao nascimento do paciente foi de 28,5±6,9 anos para as mães e 31,4±7,4 anos para os pais. A maioria dos indivíduos (97,5%) possuía acometimento auricular, 90,2% tinham manifestações faciais, 65,9%, vertebrais, 53,7%, oculares, 36,6%, cardiovasculares, 29,3%, urogenitais e 17%, no sistema nervoso central. Além disso, 34% dos pacientes apresentavam a tríade clássica óculo-aurículo-vertebral, e todos os pacientes exceto um apresentavam concomitantemente problemas em outros órgãos ou sistemas. Conclusão: já que o diagnóstico desta entidade é eminentemente clínico, é imprescindível que os médicos das mais diversas especialidades conheçam os achados mais frequentes na OAV. Diante de um paciente com suspeita diagnóstica, deve ser realizada avaliação detalhada de outros órgãos, tanto clínica como por meio de exames complementares. O tratamento é baseado na correção cirúrgica das malformações e na reabilitação.
Subject(s)
Humans , Male , Female , Goldenhar Syndrome/pathology , Goldenhar Syndrome/epidemiology , Spine/abnormalities , Brazil/epidemiology , Eye Abnormalities , Medical Records , Retrospective Studies , Sex Distribution , Ear/abnormalities , Face/abnormalities , Goldenhar Syndrome/physiopathologyABSTRACT
Objective: In this case report, the feasibility and precision of tridimensional (3D) virtual planning in one patient with craniofacial microsomia is tested using Nemoceph 3D-OS software (Software Nemotec SL, Madrid, Spain) to predict postoperative outcomes on hard tissue and produce CAD/CAM (Computer Aided Design/Computer Aided Manufacturing) surgical splints. Methods: The clinical protocol consists of 3D data acquisition of the craniofacial complex by cone-beam computed tomography (CBCT) and surface scanning of the plaster dental casts. The ''virtual patient'' created underwent virtual surgery and a simulation of postoperative results on hard tissues. Surgical splints were manufactured using CAD/CAM technology in order to transfer the virtual surgical plan to the operating room. Intraoperatively, both CAD/CAM and conventional surgical splints are comparable. A second set of 3D images was obtained after surgery to acquire linear measurements and compare them with measurements obtained when predicting postoperative results virtually. Results: It was found a high similarity between both types of surgical splints with equal fitting on the dental arches. The linear measurements presented some discrepancies between the actual surgical outcomes and the predicted results from the 3D virtual simulation, but caution must be taken in the analysis of these results due to several variables. Conclusions: The reported case confirms the clinical feasibility of the described computer-assisted orthognathic surgical protocol. Further progress in the development of technologies for 3D image acquisition and improvements on software programs to simulate postoperative changes on soft tissue are required.
Objetivo: neste relato de caso, de um paciente com microssomia craniofacial, testou-se a viabilidade e a precisão do planejamento virtual tridimensional (3D) utilizando o software Nemoceph 3D-OS (Software Nemotec SL, Madri, Espanha) para prever os resultados pós-operatórios em tecidos duros e produzir splints cirúrgicos CAD/CAM. Métodos: o protocolo clínico usado consistiu na aquisição de dados 3D do complexo craniofacial por meio de tomografia computadorizada de feixe cônico (TCFC) e digitalização dos modelos de gesso. O "paciente" criado virtualmente foi submetido à cirurgia virtual e obteve-se uma simulação dos resultados pós-operatórios nos tecidos duros. Os splintscirúrgicos foram confeccionados usando-se a tecnologia CAD/CAM, e permitiram que o planejamento cirúrgico virtual fosse transferido para a sala cirúrgica. No transoperatório, tanto os splints CAD/CAM quanto os splints cirúrgicos convencionais mostraram-se similares. Um segundo conjunto de imagens 3D foi obtido após a cirurgia, para que medidas lineares pudessem ser obtidas e comparadas com as medidas feitas na simulação virtual dos resultados pós-operatórios. Resultados: foi encontrada uma forte semelhança entre os dois tipos desplints cirúrgicos, que se adaptaram da mesma forma nas arcadas dentárias. As medidas lineares mostraram algumas discrepâncias entre os resultados cirúrgicos reais e os resultados previstos na simulação virtual 3D; porém, a análise desses resultados requer cautela, em virtude da presença de inúmeras variáveis que podem neles interferir. Conclusões: o caso relatado no presente estudo confirma a viabilidade clínica do protocolo descrito de cirúrgica ortognática assistida por computador. Porém, ainda se faz necessária uma maior evolução no desenvolvimento de tecnologias para a aquisição de imagens 3D e nos softwares que simulam as alterações pós-operatórias nos tecidos moles.
Subject(s)
Humans , Splints , Orthognathic Surgery , Goldenhar Syndrome , Patient Care Planning , Computer-Aided Design , Imaging, Three-Dimensional , Surgery, Computer-Assisted , Orthognathic Surgical ProceduresABSTRACT
Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
Subject(s)
Child, Preschool , Humans , Male , Central Nervous System , Congenital Abnormalities , Cranial Nerves , Facial Nerve , Goldenhar Syndrome , Hand , Klippel-Feil Syndrome , Medulla Oblongata , Mesoderm , Neurologic Examination , Paralysis , Poland Syndrome , Rhombencephalon , RibsABSTRACT
La reconstrucción de la articulación temporomandibular (ATM) es una de las cirugías más demandantes para el cirujano maxilofacial y su equipo. Sus objetivos no sólo incluyen la rehabilitación del complejo mecanismo normal de la articulación, sino también la restauración de la simetría facial, mejorar la oclusión y a la vez la masticación. Las funciones de la ATM pueden verse afectadas por diferentes en enfermedades: tumorales, infecciosas, traumáticas y displasias. Éstas son las que constituyen la mayor indicación para la reconstrucción de la ATM, siendo las congénitas asociadas a síndromes las más difíciles de tratar. La microsomía hemifacial es el segundo defecto craneofacial más común, después de la fisura labio palatina. Es un síndrome que, a diferencia de otros, presenta una gran diversidad de opciones de tratamiento, los cuales van a ser aplicados con un enfoque multidisciplinario, ya que los tratamientos pueden ir desde los conservadores o no quirúrgicos como los de ortopedia funcional hasta los quirúrgicos que comprenden la reconstrucción de la ATM y rama mandibular, los cuales en su mayoría se realizan con injertos libres costocondrales. Se presenta el caso de un paciente femenino de cinco años de edad, la cual acude referida al Hospital Central ®Dr. Ignacio Morones Prieto¼ con diagnóstico de microsomía hemifacial severa. Este trabajo se enfoca en describir el protocolo utilizado en nuestra institución para la reconstrucción mandibular de este síndrome desde edades tempranas, lo que beneficiará tanto la función articular como la estética facial.
Temporomandibular joint (TMJ) reconstruction is one of the most demanding surgical procedures performed by maxillofacial surgeons and their teams, whose aim is not only to rehabilitate the complex normal mechanism of the joint but also to restore facial symmetry, and to improve occlusion and chewing. TMJ functions can be affected by various types of maladies: tumors, infectious diseases, trauma, and dysplasias, which constitute the main indicators for TMJ reconstruction, being those associated with congenital syndromes the most difficult to treat. Hemi-facial microsomia is the second most common craniofacial defect after cleft lip and palate. Unlike other syndromes, it presents a wide range of treatment options, all involving a multidisciplinary approach as that they can range from conservative or nonsurgical procedures to functional orthopedics, and surgical procedures in which the TMJ and the mandibular ramus are reconstructed...
Subject(s)
Humans , Female , Child, Preschool , Temporomandibular Joint/surgery , Goldenhar Syndrome/surgery , Goldenhar Syndrome/rehabilitation , Bone Transplantation/methods , Age Factors , Clinical Protocols , Dental Service, Hospital , Mexico , Oral Surgical Procedures/methodsABSTRACT
Goldenhar's syndrome is a polymalformative condition consisting of a craniofacial dysostosis that determines difficult airway in up to 40% of cases. We described a case of a newborn with Goldenhar's syndrome with esophageal atresia and tracheoesophageal fistula who underwent repair surgery. We report the case of a 24-h-old newborn with Goldenhar's syndrome. He had esophageal atresia with distal tracheoesophageal fistula. It was decided that an emergency surgery would be performed for repairing it. It was carried out under sedation, intubation with fibrobronchoscope distal to the fistula, to limit the air flow into the esophagus, and possible abdominal distension. Following complete repair of the esophageal atresia and fistula ligation, the patient was transferred to the intensive care unit and intubated under sedation and analgesia. The finding of a patient with Goldenhar's syndrome and esophageal atresia assumes an exceptional situation and a challenge for anesthesiologists, since the anesthetic management depends on the patient comorbidity, the type of tracheoesophageal fistula, the usual hospital practice and the skills of the anesthesiologist in charge, with the main peculiarity being maintenance of adequate pulmonary ventilation in the presence of a communication between the airway and the esophagus. Intubation with fibrobronchoscope distal to the fistula deals with the management of a probably difficult airway and limits the passage of air to the esophagus through the fistula.
A síndrome de Goldenhar é um quadro de polimalformação que consiste em uma disostose craniofacial que determina uma via respiratória difícil em até 40% dos casos. Nós descrevemos um caso de um recém-nascido com síndrome de Goldenhar com atresia de esôfago e fístula traqueoesofágica para a qual foi feita cirurgia de reparo. Apresentamos o caso de um recém-nascido de 24 horas de vida com síndrome de Goldenhar. Ele apresentava atresia de esôfago, com fístula traqueoesofágica distal. Decidiu-se por uma cirurgia de emergência para reparo. Ela foi feita sob sedação, intubação com fibrobroncoscópio distal à fístula, para limitar passagem do ar para o esôfago e possível distensão abdominal. Após o reparo completo da atresia de esôfago e ligadura da fístula, o paciente foi transferido para a unidade de terapia intensiva e intubado com sedoanalgesia. O achado de um paciente com síndrome de Goldenhar e atresia de esôfago supõe uma situação excepcional e um desafio para os anestesiologistas, pois o manejo anestésico depende da comorbidade do paciente, do tipo de fístula traqueoesofágica, da prática hospitalar habitual e das habilidades do anestesiologista responsável, sendo que a peculiaridade principal é manter uma ventilação pulmonar adequada na presença de uma comunicação entre a via respiratória e o esôfago. A intubação com fibrobroncoscópio distal à fístula resolve o manejo da via respiratória provavelmente difícil e limita a passagem de ar para o esôfago através da fístula.
El síndrome de Goldenhar es un cuadro polimalformativo consistente en una disostosis craneofacial que condiciona una vía aérea difícil hasta en el 40% de los casos. Describimos un caso de un neonato con síndrome de Goldenhar con atresia de esófago y fístula traqueoesofágica al que se practicó cirugía de reparación de la misma. Presentamos un caso de un neonato con síndrome de Goldenhar de 24 h de vida. Presentaba atresia esofágica con fístula traqueoesofágica distal. Se decidió una intervención quirúrgica urgente para la reparación de la misma. Se realizó bajo sedación, intubación con fibrobroncoscopio distal a la fístula, para limitar el paso de aire a esófago y la posible distensión abdominal. Tras la completa reparación de la atresia esofágica y la ligadura de la fístula, el paciente fue trasladado a la unidad de cuidados intensivos con sedoanalgesia e intubado. el hallazgo de un paciente con síndrome de Goldenhar y atresia de esófago supone una situación excepcional y un reto para los anestesiólogos, por lo que el manejo anestésico depende de la comorbilidad del paciente, del tipo de fístula traqueoesofágica, de la práctica hospitalaria habitual y de las habilidades del anestesiólogo responsable, siendo la principal particularidad el mantenimiento de una adecuada ventilación pulmonar en presencia de una comunicación entre la vía aérea y el esófago. La intubación con fibrobroncoscopio distal a la fístula solventa el manejo de la vía aérea probablemente difícil y limita el paso de aire al esófago a través de la fístula.
Subject(s)
Humans , Male , Infant, Newborn , Tracheoesophageal Fistula/surgery , Esophageal Atresia/surgery , Goldenhar Syndrome/surgery , Anesthetics/administration & dosage , Bronchoscopy/methods , Tracheoesophageal Fistula/etiology , Tracheoesophageal Fistula/pathology , Clinical Competence , Esophageal Atresia/etiology , Esophageal Atresia/pathology , Airway Management/methods , Goldenhar Syndrome/physiopathology , Intubation, Intratracheal/methodsABSTRACT
CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS. DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil. METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia. RESULTS: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma. CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients. .
CONTEXTO E OBJETIVO: O espectro oculoauriculovertebral (EOAV) é considerado um defeito de embriogênese envolvendo estruturas originadas a partir dos primeiros arcos branquiais. Nosso objetivo foi descrever os achados clínicos e citogenéticos de uma amostra de pacientes com fenótipo de EOAV. TIPO DE ESTUDO E LOCAL: Estudo transversal em um hospital de referência no sul do Brasil. MÉTODOS: A amostra foi composta de 23 pacientes que apresentaram achados clínicos em pelo menos duas das quatro áreas: orocraniofacial, oculares, auriculares e vertebrais. Os pacientes foram submetidos a um protocolo clínico e avaliação citogenética através do cariótipo de alta resolução, hibridização in situ fluorescente para as microdeleções 5p e 22q11 e pesquisa de instabilidade cromossômica para anemia de Fanconi. RESULTADOS: Alterações citogenéticas foram observadas em três casos (13%) e consistiam de: 47,XX,+mar; mos 47,XX,+mar/46,XX e 46,XX,t(6;10)(q13;q24). Observamos casos de EOAV com história de exposição gestacional à fluoxetina, ácido retinoico e crack. Um dos nossos pacientes foi um gêmeo monozigótico discordante que teve restrição de crescimento assimétrica durante a gravidez. Nossos pacientes com EOAV foram caracterizados por um amplo espectro clínico e alguns apresentaram achados clínicos atípicos como um defeito de redução de membro inferior e um tumor do braço direito, sugestivo de hemangioma/linfangioma. CONCLUSÕES: Verificamos grande variedade de características clínicas entre os pacientes com EOAV. Também foram observadas diferentes anomalias cromossômicas e exposições gestacionais. Assim, nossos achados salientam a heterogeneidade da etiologia do EOAV e a importância desses fatores na avaliação clínica e citogenética desses pacientes. .
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Young Adult , Chromosome Aberrations , Goldenhar Syndrome/genetics , Phenotype , Abnormalities, Drug-Induced , Brazil , Cervical Rib/abnormalities , Cervical Rib , Chromosome Deletion , Cross-Sectional Studies , In Situ Hybridization, Fluorescence , Karyotyping , Mandible/abnormalities , Mandible , Pregnancy Complications , Teratogens , Ultrasonography, PrenatalABSTRACT
Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar syndrome, hemifacial microsomia, oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum, is a developmental disorder associated with the first and second branchial arches. Most cases are sporadic, while some familial instances observed suggested that the etiology of OAVS heterogeneous. In this review, we summarize the OAVS epidemiology, classification and mainlyheterogeneous etiology.
Subject(s)
Humans , Goldenhar Syndrome , PathologyABSTRACT
Hemifacial microsomia (HFM) is the most common craniofacial anomaly after cleft lip and cleft palate; this deformity primarily involves the facial skeleton and ear, with either underdevelopment or absence of both components. In patients with HFM, the management of the asymmetries requires a series of treatment phases that focus on their interception and correction, such as distraction osteogenesis or functional appliance treatment during growth and presurgical orthodontic treatment followed by mandibular and maxillary surgery. Satisfactory results were obtained in a 9-year-old girl with HFM who was treated with distraction osteogenesis. At the age of 19, genioplasty and mandible body augmentation with a porous polyethylene implant (PPE, Medpor(R), Porex) was sequentially performed for the functional and esthetic reconstruction of the face. We report a case of HFM with a review of the literature.
Subject(s)
Child , Female , Humans , Cleft Lip , Cleft Palate , Congenital Abnormalities , Ear , Follow-Up Studies , Genioplasty , Goldenhar Syndrome , Mandible , Osteogenesis, Distraction , Polyethylene , SkeletonABSTRACT
BACKGROUND: The aim of this study was to present three-dimensional (3D) structural characteristics of the mandible in the hemifacial microsomia. The mandible has six distinct functional units, and its architecture is the sum of balanced growth of each functional unit and surrounding matrix. METHODS: In order to characterize the mandibular 3D architecture of hemifacial microsomia, we analyzed the mandibular functional units of four hemifacial microsomia patients using the 3D reconstructed computed tomography (CT) images. And we compared the functional unit size between affected and non-affected side. RESULTS: The length of condyle and angle showed significant differences between affected and non-affected sides. However, the length of mandibular body showed insignificant differences. The size differences between affected and non-affected side were observed at the condyle, angle, and body in descending order. CONCLUSIONS: This preliminary study suggests that the main etiopathogenic units are condyle and angle in the hemifacial microsomia mandible. Further investigation with the increased number of subjects will be helpful to establish treatment modality by etiopathogenic targeting of hemifacial microsomia.
Subject(s)
Humans , Goldenhar Syndrome , MandibleABSTRACT
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.
Subject(s)
Animals , Cats , Female , Humans , Pregnancy , Anal Canal , Anus, Imperforate , Diagnosis, Differential , Ear , Embryonic Development , Eye Abnormalities , Family Characteristics , Goldenhar Syndrome , Hearing Loss, Sensorineural , Mothers , Physical Examination , Polydactyly , Thumb , Transcription FactorsABSTRACT
La Microsomía Hemifacial es una altera - ción congénita que comúnmente se presenta en los tejidos blandos y duros de una mitad de la cara con características específicas que definen su diagnóstico haciendo clara su diferencia con otras patologías similares. El objetivo de esta revisión es reconocer en la clínica las características de la microsomía hemifacial para llevar a cabo un correcto diagnóstico. Se realizó una búsqueda en las bases de datos (Scielo, Medline, Science Direct) con las palabras claves: Microsomía Hemifacial, tejidos Blandos, tejidos Óseos). Se obtuvo de la búsqueda de la literatura 64 artículos, con la que se pretendió encontrar información que evaluara los diagnósticos diferencia - les de microsomía hemifacial en tejidos blandos y tejidos duros. El profesional clínico debe reconocer la asociación con síndromes para el tratamiento de la MHF, de esa forma el proceso terapéutico puede cambiar, y debe establecer la severidad de la patología en sus diferentes tejidos para su futura recuperación y establecimiento del plan de tratamiento. El buen diagnóstico y la caracterización de la misma darán un adecuado plan de tratamiento.
The Hemifacial Microsomía is a congeni - tal disorder that commonly occurs in the hard and soft tissues of half of the face with specific characteristics that define its diagnosis, making clear its difference from other similar diseases. The aim of this review is to recognize the clinical features of Hemifacial Microsomía to perform a correct diagnosis. A search was conducted in the databases (Scielo, Medline, Science Direct) with keywords: Hemifacial Micro- somía, Soft tissue, Bone tissue). Sixty four papers assesed the differential diagnosis of HFM. The clinician must recognize the as- sociation with syndromes to treat the HFM, thus the therapeutic process can change, and establish the severity of the disease in different tissues for future retrieval and treatment plan.
Subject(s)
Craniofacial Abnormalities , Craniofacial Dysostosis , Goldenhar Syndrome , Mandibulofacial Dysostosis , Dentistry , ReviewABSTRACT
<p><b>OBJECTIVE</b>To analyze the effect of mandibular distraction on the maxilla growth in children with hemifacial microsomia through measurement with the posterior-anterior cephalometric X-ray films and Three-dimensional CT reconstruction images.</p><p><b>METHODS</b>The deviation angular of maxilla occlusion plane and nasal base plane from the infra-orbital plane were measured on the posterior-anterior cephalometric X-ray films in 22 patients before and half a year after operation. The vertical distance from the midpoint of 5th teeth alveolar and the lowest point of maxillary sinus to reference plane were measured on 3D reconstruction images in 15 patients. The data were statistically analyzed.</p><p><b>RESULTS</b>On posterior-anterior cephalometric X-ray films, the cant of occlusion plane were significantly reduced (P < 0.05), While the angular of nasal base plane and the infra-orbital plane had no significant change. On 3D reconstruction images, all the detection points had significantly declined except the lowest point of maxillary sinus on normal side.</p><p><b>CONCLUSIONS</b>Distraction osteogenesis of mandible can promote the growth of the maxilla in children with HFM, the accelerated growth parts include alveolar bone and maxillary sinus.</p>
Subject(s)
Child , Humans , Dental Occlusion , Goldenhar Syndrome , General Surgery , Mandible , General Surgery , Maxilla , Osteogenesis, DistractionABSTRACT
PURPOSE: Expression patterns, associated anomalies and progress of the patients with Goldenhar syndrome from the neonatal period were systematically investigated. This allows us to evaluate the need for early diagnosis. METHODS: This is a retrospective study of 29 infants with Goldenhar syndrome whose diagnosed in Samsung Medical Center between 1994 and 2013. Associated anomalies and procedures between neonatal group (n=13) and non-neonatal group (n=16) were systematically compared. RESULTS: Mean gestational age in the neonatal group were 38+1+/-2+4 weeks and 3 patients (23%) were preterm infants. The average birth weight in the neonatal group were 2,853+/-544 grams. Goldenhar syndrome was mainly diagnosed by ear and face anomalies during the neonatal period. The associated anomalies in neonatal group were cardiovascular anomaly (54%), genitourinary anomaly (30%), vertebral anomaly (15%), and others (31%). About 40% of patients who had long-term follow-up revealed hearing abnormalities and about 1/4 of all patients had bilateral hearing problem, which resulted in requiring hearing aid devices. In addition, the most common procedure performed during follow-up was preauricular skin tag removal. And other procedures or surgery related to oral, eyes, and others were performed in each 1/4 of the patients. Cardiac surgery was done in 15% of total patients. Frequency of associated anomalies and performed procedures between the patients diagnosed at neonatal and non-neonatal period was not significantly different. CONCLUSION: A multidisciplinary approach should be undertaken by multi-departments when evaluating patients with Goldenhar syndrome. In particular if the patient has an ear anomaly, careful hearing test is required in early life.
Subject(s)
Humans , Infant , Infant, Newborn , Birth Weight , Ear , Early Diagnosis , Follow-Up Studies , Gestational Age , Goldenhar Syndrome , Hearing , Hearing Aids , Hearing Tests , Infant, Premature , Retrospective Studies , Skin , Thoracic SurgeryABSTRACT
Los síndromes polimalformativos se refieren a un patrón de anomalías multiples con relación patogénica entre sí, sin que representen una secuencia; el Síndrome Goldenhar es de rara aparición, ha sido identificado como una displasia óculo-aurículo-vertebral, su severidad y pronóstico están directamente relacionados con problemas derivados de las malformaciones. Se reporta el caso de un paciente masculino de 13 años de edad con diagnóstico de Síndrome Goldenhar, y antecedente de labio y paladar fisurado pre-foramen unilateral derecho (clasificación de Spina), ausencia de pabellón auricular izquierdo y parálisis facial leve del lado izquierdo. Se planteó un tratamiento multidisciplinario ortodoncico-quirúrgico, La atencion de pacientes sindrómicos requiere del análisis de las características del síndrome para que el clínico pueda establecer sus objetivos y limitaciones en cuanto a planificación de tratamiento. El abordaje de las malformaciones asociadas a un síndrome debe realizarse en una secuencia lógica y bien analizada con el fin de brindar al paciente un tratamiento eficaz y eficiente.
Polymalformation syndromes refer to a pattern of multiple anomalies pathogenic relationship with each other, without representing a sequence; the Goldenhar syndrome is very rare and has a weak genetic component, it has been identified as an oculo-auriculo-vertebral dysplasia and its severity and prognostic is related to the malformations problems. This case describes a 13 years old male patient diagnosed with Goldenhar syndrome which records show a history of cleft lip and palate right unilateral pre-foramen, no left ear and slight left facial paralysis. For treatment was planned a multidisciplinary approach with an ortho-surgical fase. The attention of syndromic patient requires the analysis of each syndrome's characteristics so the clinician can establish his goals and limitations. The approach of anomalies associated to a syndrome must have a logical sequence and well analyzed so the patient can receive an efficient and effective treatment.
Subject(s)
Humans , Male , Adolescent , Cleft Palate , Medical Illustration , Cleft Lip , Goldenhar Syndrome , Goldenhar Syndrome/therapyABSTRACT
<p><b>OBJECTIVE</b>To study the combination of Mandibular distraction and orthognathic techniques for the reconstruction of adult hemifacial microsomia.</p><p><b>METHODS</b>The three-dimensional CT reconstruction data was used with Mimics for preoperation design. The osteotomy location, distraction vector, distraction distance were decided before operation with a surgical guider. At the first stage, internal distractor was implanted after ostetomy through an extra-oral approach. The distraction begun 5-7 days after operation with a frequency of 1 mm/day. After distraction, the distractor was maintained for 3-6 months. At the second stage, the distractor was removed. Le Fort I osteotomy was performed in order to correct the cross-bite and improve the facial contour. Usually, bone graft was inserted into the gap after Le Fort I osteotomy. The genioplasty was also performed if necessary.</p><p><b>RESULTS</b>9 cases of adult hemifacial microsomia with severe mandibular deviation were treated. The facial asymmetry were improved greatly. 1 patient suffered an wound infection in the maxillary region after Le Fort I osteotomy and healed uneventfully with wound irrigation.</p><p><b>CONCLUSIONS</b>Mandibular distraction combined with orthognathic surgery is an effective procedure for adult hemifacial microsomia with complicated mandibular hypoplasia.</p>
Subject(s)
Adult , Aged , Humans , Bone Transplantation , Facial Asymmetry , General Surgery , Goldenhar Syndrome , General Surgery , Mandible , General Surgery , Osteogenesis, Distraction , Methods , Osteotomy, Le Fort , MethodsABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical application of mandibular-driven simultaneous maxillo-mandihular distraction to correct hemifacial microsomia with rapid prototyping technology.</p><p><b>METHODS</b>The patient' s skull resin model was manufactured with rapid prototyping technology. The osteotomy was designed on skull resin model. According to the preoperative design, the patients underwent Le Fort I osteotomy and mandibular ramus osteotomy. The internal mandible distractor was embedded onto the osteotomy position. The occlusal titanium pin was implanted. Distraction were carried out by mandibular-driven simultaneous maxillo-mandihular distraction 5 days after operation.</p><p><b>RESULTS</b>The distraction in five patients was complete as designed. No infection and dysosteogenesis happened. The longest distance of distraction was 28 mm, and the shortest distance was 16 mm. The facial asymmetry deformity was significantly improved at the end of distraction. The ocelusal plane of patients obviously improved.</p><p><b>CONCLUSIONS</b>Rapid prototyping technology is helpful to design precisely osteotomy before operation. Mandibular-driven simultaneous maxillo-mandibular distraction can correct hemifacial microsomia. It is worth to clinical application.</p>