ABSTRACT
A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. There is no consensus on which imaging studies should be used to rule out variable expressivity and distinguish "sporadic" from "familial" patients. This observational and descriptive study was performed in a Mexican population of 51 patients (32 males, 19 females, 0-18 years old) with microtia/OAVS, and their available parents. A clinical history, genealogy, and physical examination were obtained from all included patients, as were a computed tomography (CT) scan of the ear, audiological evaluation, orthopantomography, complete spine radiography, and renal ultrasound. The same approach was completed in their available parents (51 mothers and 40 fathers), excluding the CT scan and audiological evaluation. By genealogy, 53% of patients were classified as "sporadic"; of the "familial" patients, at least 79.1% had suggestion of a multifactorial inheritance. In the available parents, orthopantomography, complete spine X-ray, and renal ultrasound identified the following OAVS-related manifestations: HH (16.2%, n = 14/86), vertebral alterations (10.9%, n = 10/91), and renal anomalies (2.2%, n = 2/90). Our evaluation of the parents allowed three patients to be reclassified from "sporadic" to "familial" (5.8%, n = 3/51). Our proposed clinical and imaging approach allowed the identification of variable expressivity that more clearly distinguished between "sporadic" and "familial" OAVS patients, which is of utmost importance in providing proper genetic counseling to these families.
Subject(s)
Congenital Microtia , Goldenhar Syndrome , Adolescent , Child , Child, Preschool , Female , Goldenhar Syndrome/diagnostic imaging , Goldenhar Syndrome/genetics , Humans , Infant , Infant, Newborn , Male , Mexico , Spine/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11) in those affected. It's known that the 22q11 region is associated with disorders involving higher and lower gene dosages. Conditions such as CES, 22q11 microduplication syndrome (Dup22q11) and oculoauriculovertebral spectrum phenotype (OAVS) may share genes belonging to this same region, which is known to have a predisposition to chromosomal rearrangements. The conditions, besides being related to chromosome 22, also share similar phenotypes. Here we have added a molecular evaluation update and results found of the first patient described with CES and OAVS phenotype, trying to explain the potential mechanism involved in the occurrence of this association.
Subject(s)
Chromosome Disorders/genetics , Chromosome Duplication , Eye Abnormalities/genetics , Goldenhar Syndrome/genetics , Aneuploidy , Child , Chromosome Disorders/pathology , Chromosomes, Human, Pair 22/genetics , Comparative Genomic Hybridization , Eye Abnormalities/pathology , Female , Gene Dosage , Goldenhar Syndrome/pathology , HumansABSTRACT
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by anomalies mainly involving the structures derived from the first and second pharyngeal arches. The spectrum presents with heterogeneous clinical features and complex etiology with genetic factors not yet completely understood. To date, MYT1 is the most important gene unambiguously associated with the spectrum and with functional data confirmation. In this work, we aimed to identify new single nucleotide variants (SNVs) affecting MYT1 in a cohort of 73 Brazilian patients diagnosed with OAVS. In addition, we investigated copy number variations (CNVs) encompassing this gene or its cis-regulatory elements and compared the frequency of these events in patients versus a cohort of 455 Brazilian control individuals. A new SNV, predicted as likely deleterious, was identified in five unrelated patients with OAVS. All five patients presented hearing impairment and orbital asymmetry suggesting an association with the variant. CNVs near MYT1, located in its neighboring topologically associating domain (TAD), were found to be enriched in patients when compared to controls, indicating a possible involvement of this region with OAVS pathogenicity. Our findings highlight the genetic complexity of the spectrum that seems to involve more than one variant type and inheritance patterns.
Subject(s)
DNA-Binding Proteins/genetics , Genetic Predisposition to Disease , Goldenhar Syndrome/genetics , Transcription Factors/genetics , Branchial Region/pathology , Brazil/epidemiology , DNA Copy Number Variations/genetics , Female , Goldenhar Syndrome/epidemiology , Goldenhar Syndrome/pathology , Humans , Male , Phenotype , Polymorphism, Single Nucleotide/geneticsABSTRACT
This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyotype and chromosomal microarray analysis. Sex ratio, prenatal risk factors, and recurrence rate corroborated the literature. Despite the wide variability of clinical findings, ear disruption was universal. Eight patients were assigned as syndromic, four of whom had demonstrable genetic alterations. The majority of patients (67.2%) fulfilled four known diagnostic criteria, while 9.8% fulfilled one of them. Data strengthened disruptions of the ear and deafness as a semiotically valuable sign in CFM. Facial impairment should consider asymmetry as a mild expression of microsomia. Spinal and cardiac anomalies, microcephaly, and developmental delay were prevalent among extra craniofacial features and should be screened before planning treatment and follow up. The severity index was able to recognize the less and the most affected patients. However, it was not useful to support therapeutic decisions and prognosis in the clinical scenario due to syndromic and non-syndromic phenotypes overlapping. These issues make contemporary the debate on diagnostic methods and disease severity assessment for CFM. They also impact care and etiopathogenetic studies.
Subject(s)
Goldenhar Syndrome , Heart Defects, Congenital , Microcephaly , Face , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/genetics , Humans , SpineABSTRACT
The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation-dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features.
Subject(s)
Goldenhar Syndrome , Heart Defects, Congenital , DNA Copy Number Variations , Genomics , Goldenhar Syndrome/genetics , Humans , Microarray AnalysisABSTRACT
Oculo-auriculo-vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis defect of the first and second pharyngeal arches. Etiology includes unknown genetic, environmental factors and chromosomal alterations, which 22q11.2 region is the most frequently reported. Several candidate genes for OAVS have been proposed; however, none has been confirmed as causative of the phenotype. This review aims to sum up all clinical and molecular findings in 22q region of individuals diagnosed with OAVS and to investigate genes that may be involved in the development of the spectrum. A search was performed in PubMed using all entry terms to OAVS and Chromosome 22q11. After screening, 11 papers were eligible for review. Deletions and duplications in the q11.2 region were the most frequent (18/22) alterations reported and a total of 68 genes were described. Our systematic review reinforces the hypothesis that 22q11 region is a candidate locus for OAVS as well as CLTCL1, GSC2, HIRA, MAPK1, TBX1, and YPEL1 as potential candidates genes for genotype-phenotype correlation. Complementary studies regarding genes interaction involved in the 22q11 region are still necessary in the search for a genotype-phenotype association, since the diagnosis of OAVS is a constant medical challenge.
Subject(s)
Chromosomes, Human, Pair 22 , Genetic Association Studies , Genetic Predisposition to Disease , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/genetics , Adolescent , Child , Child, Preschool , Chromosome Aberrations , Female , Gene Deletion , Gene Duplication , Humans , Infant , Male , Phenotype , Polymorphism, Single NucleotideABSTRACT
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known. Environmental factors, family cases that demonstrate Mendelian inheritance, such as preauricular appendages, microtia, mandibular hypoplasia, and facial asymmetry; chromosomal abnormalities and some candidate genes suggest a multifactorial inheritance model. We evaluated clinical, cytogenomic and molecularly 72 patients with OAVS, and compared our findings with patients from the literature. We found 15 CNVs (copy number variations) considered pathogenic or possibly pathogenic in 13 out of 72 patients. Our results did not indicated a single candidate genomic region, but recurrent chromosomal imbalances were observed in chromosome 4 and 22, in regions containing genes relevant to the OAVS phenotype or related to known OMIM diseases suggesting different pathogenic mechanisms involved in this genetically and phenotypic heterogeneous spectrum.
Subject(s)
Chromosome Aberrations , Genetic Association Studies , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/genetics , Phenotype , Adolescent , Adult , Child , Child, Preschool , Cytogenetic Analysis , DNA Copy Number Variations , Female , Goldenhar Syndrome/epidemiology , Humans , Infant , Infant, Newborn , Male , Middle Aged , Prevalence , Young AdultABSTRACT
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis. The genomic imbalances investigation by Multiplex Ligation-dependent Probe Amplification (MLPA) and Chromosomal Microarray Analysis (CMA) revealed a distal deletion of 1,048â¯kbâ¯at 22q11.2 encompassing the region from Low Copy Repeats (LCRs) D to E. We did review of the literature and genotype-phenotype correlation. This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. All cases share some phenotypic signs, such as preauricular tags, facial asymmetry, cleft lip and palate, and congenital heart diseases. Candidate genes in this region have been studied by having an important role in pharyngeal arches developmental and in congenital heart diseases, such as HIC2, YPEL1and MAPK1/ERK2. This case corroborates the phenotypic similarity between 22q11.2 distal deletion and CFM/OAVS. It also contributes to genotype-phenotype correlation and reinforces that candidate genes for CFM, in the 22q11.2 region, might be located between LCRs D and E.
Subject(s)
22q11 Deletion Syndrome/diagnosis , Goldenhar Syndrome/diagnosis , Phenotype , 22q11 Deletion Syndrome/genetics , Child , Diagnosis, Differential , Female , Genetic Loci , Genotype , Goldenhar Syndrome/genetics , HumansABSTRACT
Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient's age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing loss ranging from mild to moderate, and two patients had sensorineural hearing loss from mild to profound. Three patients had hearing loss in both ears. Speech-language disorders are common in children with OAVS. Thus, the referral to the audiologist and speech pathologist is indicated as soon as possible. Early recognition and detailed understanding of aspects related to the etiology, clinical features, and outcome of patients with OAVS are essential for their proper management. © 2016 Wiley Periodicals, Inc.
Subject(s)
Goldenhar Syndrome/diagnosis , Phenotype , Adolescent , Adult , Child , Child, Preschool , Female , Goldenhar Syndrome/genetics , Hearing Loss/diagnosis , Hearing Loss/genetics , Hearing Tests , Humans , Infant , Male , Physical Examination , Prospective Studies , Young AdultABSTRACT
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
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.
Subject(s)
Chromosome Aberrations , Goldenhar Syndrome/genetics , Phenotype , Abnormalities, Drug-Induced , Adolescent , Adult , Brazil , Cervical Rib/abnormalities , Cervical Rib/diagnostic imaging , Child , Child, Preschool , Chromosome Deletion , Cross-Sectional Studies , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Karyotyping , Male , Mandible/abnormalities , Mandible/diagnostic imaging , Pregnancy , Pregnancy Complications , Radiography , Teratogens , Ultrasonography, Prenatal , Young AdultABSTRACT
The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS is a challenge for clinical geneticists, not only because these patients display heterogeneous phenotypes, but also because its etiology encompasses environmental factors, unknown genetic factors and different chromosome aberrations. To date, several chromosomal abnormalities have been associated with the syndrome, most frequently involving chromosome 22. In the literature, six 22q11.2 microdeletions have been described within the same region, suggesting possible OAVS candidate genes in this segment. Here, we report on a patient with an â¼581-kb 22q11.21 deletion, detected by genomic array and MLPA. This is the 7th case described with OAVS and 22q deletion, suggesting that the 22q11.2 region may be related to the regulation of body symmetry and facial development.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , Goldenhar Syndrome/genetics , Abnormalities, Multiple/pathology , Child, Preschool , Chromosome Banding , Goldenhar Syndrome/pathology , Humans , Infant , Karyotype , Male , Multiplex Polymerase Chain Reaction/methods , Oligonucleotide Array Sequence Analysis/methods , Phenotype , Polymorphism, Single NucleotideABSTRACT
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%). 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% versus 11%). 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.
Subject(s)
Goldenhar Syndrome , Nervous System Malformations/diagnosis , Adolescent , Child , Child, Preschool , Female , Goldenhar Syndrome/genetics , Humans , Infant , Infant, Newborn , Karyotyping , Magnetic Resonance Imaging , Male , Nervous System Malformations/genetics , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
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
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies.
Subject(s)
Abnormalities, Multiple/genetics , Genes, Dominant , Goldenhar Syndrome/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Child , Child, Preschool , Family , Female , Goldenhar Syndrome/diagnosis , Humans , Infant , MaleABSTRACT
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