ABSTRACT
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
Objective: To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. Method: Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral. Results: CNS alterations were verified in eight from seventeen patients (47 percent). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63 percent versus 11 percent). Conclusion: CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms.
Objetivo: Descrever as alterações do sistema nervoso central (SNC) presentes em uma amostra de pacientes com espectro óculo-aurículo-vertebral (EOAV), tentando correlacioná-las com os demais achados clínicos. Método: Foram avaliados dezessete pacientes com diagnóstico de EOAV. Todos apresentavam avaliação radiológica do SNC, cariótipo por bandas GTG normal e achados clínicos em pelo menos duas das quatro das seguintes áreas: oro-crânio-facial, ocular, auricular e vertebral. Resultados: Alterações do SNC foram verificadas em oito dos dezessete pacientes (47 por cento). Hipoplasia cerebral difusa, dilatação dos ventrículos cerebrais laterais (hidrocefalia assintomática), disgenesia do corpo caloso e hipondesidades frontais foram as anormalidades mais frequentes. A presença de anormalidades oftalmológicas foi a única associação clínica observada, sendo significativamente mais comum entre pacientes com alterações cerebrais (63 por cento versus 11 por cento). Conclusão: Anormalidades do SNC são frequentes entre pacientes com EOAV, especialmente em portadores de alterações oftalmológicas. Entretanto, a ausência de anormalidades cerebrais detectáveis não exclui a possibilidade de que estes indivíduos venham subseqüentemente a apresentar sintomas neurológicos.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Goldenhar Syndrome , Nervous System Malformations/diagnosis , Goldenhar Syndrome/genetics , Karyotyping , Magnetic Resonance Imaging , Nervous System Malformations/genetics , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
Presentamos un caso clínico de displasia oculoauriculovertebral o síndrome de Goldenhar en una paciente femenina de 26 años con múltiples anomalías congénitas y la presencia de quiste branquial y glaucoma primario de ángulo abierto. Mediante un estudio multidisciplinario, clínico, genético, imagenológico y con pruebas psicofísicas, se ponen en evidencia diversas anomalías craneofaciales, óseas y de vísceras toracoabdominales presentes en una misma paciente. Se señalan las diferentes deformidades que conforman actualmente un amplio espectro de anomalías, según la literatura revisada, así como las características clínicas, tratamiento y su evolución. El quiste branquial resulta un hallazgo novedoso que bien puede explicarse en este tipo de alteraciones morfogenéticas, sin embargo, el glaucoma parece ser una entidad casual. Se descartan otras anomalías oculares propias del Goldenhar que pueden ocasionar glaucoma. Se comenta la importancia del diagnóstico y tratamiento multidisciplinario, así como el riesgo quirúrgico de estos enfermos
Subject(s)
Humans , Adult , Female , Abnormalities, Multiple , Branchioma , Eye Manifestations , Glaucoma, Open-Angle , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/geneticsABSTRACT
Background. Microtia is a malformation of the ear with extreme variability of expression. It is generally seean as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), wherem, in addition, there are facial, vertebral, and renal abnormalities, among others. Methods. A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an international clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60 percent), with isolated microtia; and group 2 (40 percent), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. Results. No significant differences were found between the groups when the following variables were compared: gender; prescence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricelar tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other otgans or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66 percent of the cases were sporadic and the rest were familiar. In 28.3 percent of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5 percent, an autosomal-recessive inheritance pattent, although in some familial cases, multifactorial inheritance could not be ignored . Some members in several familes has isolated microtia, and others had mild characteristic manifestations of OAVS. Conclusions. Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of firstdegree relatives for adquate genetic counseling and management
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Adolescent , Government Agencies , Ear/abnormalities , Goldenhar Syndrome/epidemiology , Goldenhar Syndrome/genetics , Goldenhar Syndrome/pathology , Congenital Abnormalities/epidemiology , Mexico/epidemiology , PediatricsSubject(s)
Anophthalmos/genetics , Brain Diseases/genetics , Calcinosis/genetics , Child, Preschool , Goldenhar Syndrome/genetics , Humans , India , MaleABSTRACT
Os autores fazem revisäo bibliográfica e apresentaçäo de umc aso clínico da síndrome de Goldenhar-Gorlin (Displasia-aurículo-vertebral - Microssomia Hemifacial)