Características clínicas de uma amostra de pacientes com a síndrome do olho do gato

Rosa, Rafael Fabiano Machado; Mombach, Rômulo; Zen, Paulo Ricardo Gazzola; Graziadio, Carla; Paskulin, Giorgio Adriano

doi:10.1590/s0104-42302010000400021

Cited by 25 publications

(5 citation statements)

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“…Furthermore, it is noteworthy that mosaicism has been considered to be a possible cause of other conditions that are often associated with asymmetry and a possible cause of vascular disruptive, as in the Poland sequence. 22 , 23 The observation, both in the literature and in our study, of cases with the phenotype of OAVS showing chromosome mosaicism 20 , 24 , 25 emphasizes the etiologically heterogenous nature of OAVS and the importance of performing karyotype analysis with a large cell count. Since the proportions of altered cells are very variable, it seems appropriate to suggest that, in cases of individuals with the phenotype of OAVS, the metaphase analysis should be expanded to increase the possibility of detecting mosaicism.…”

Section: Discussionsupporting

confidence: 65%

“…Standardized analysis on a larger number of metaphases enabled identification of this abnormality. This individual presented a diagnosis of cat-eye syndrome and was also part of the study by Rosa et al 20 Mosaic abnormalities may be unilateral or bilateral, depending on the period of blastogenesis during which the mutation occurs. The earlier the event occurs, the greater the individual’s impairment is.…”

Section: Discussionmentioning

confidence: 92%

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Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

et al. 2014

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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.RESUMO 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 reduç...

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Section: Discussionsupporting

confidence: 65%

Section: Discussionmentioning

confidence: 92%

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

et al. 2014

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“…Rosa et al78 describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at their service. The phenotype observed in cat eye syndrome is highly variable and may be superimposed on the phenotype of the ocular-auricular-vertebral spectrum.…”

Section: Reviewmentioning

confidence: 99%

An overview of recently published medical papers in Brazilian scientific journals

Silva

Gomes

2011

Clinics

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A brief review intended as information to the readership of Clinics on papers recently published under various medical headings in Brazilian scientific journals recently indexed or about to be indexed in ISI-THOMSON Journal Citation Reports. Journals covered in this review are Acta Ortopédica Brasileira, Arquivos Brasileiros de Cardiologia, Jornal Brasileiro de Pneumologia, Revista Brasileira de Cirurgia Cardiovascular and Revista da Associação Médica Brasileira.

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“…Type 1 includes only the critical region of the CES, and type 2, reported in only a few cases of CES, includes both the CES and DiGeorge syndrome critical regions [13]. Therefore, the sSMC may vary in molecular size, but a direct correlation between CES phenotypes and the size of the supernumerary region has not been identified [7,11]. The other limitation to performing phenotype-genotype correlation is somatic mosaicism.…”

Section: Case Reportmentioning

confidence: 99%

Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

Ait Si Ali,

Alahyane,

Rafi

2024

Int J Sci Healthcare Res

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Introduction: Cat-eye syndrome is a rare genetic disease with extremely diverse phenotypes. Its most common manifestations include ocular coloboma, anal atresia, preauricular skin tags and pits. Case report: We report the third case of Cat-eye syndrome associated to Mullerian agenesis in a 28 years-old female, to highlight the possibility of a link between partial trisomy or tetrasomy of chromosome 22 (specifically of the region 22q11) and Müllerian agenesis. Discussion and Conclusion: In patients with CES, the short arm (p) and a small part of the long arm (q) of chromosome 22 are present three or four (trisomy or tetrasomy) times rather than twice in every cell of the organism. Schinzel et al, described in 1981 the first case of Cat eye syndrome associated to Mullerian agenesis in their series of 11 patients with CES. The second case of Müllerian agenesis in a patient with CES was reported by AlSubaihin et al. This rare association is suggesting that there may be genes in or near the 22q11 CES critical region that are important for normal mullerian development. Keywords: Cat-eye syndrome – Mullerian agenesis – Malformations – Genetic analysis

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Características clínicas de uma amostra de pacientes com a síndrome do olho do gato

Cited by 25 publications

References 1 publication

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

An overview of recently published medical papers in Brazilian scientific journals

Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

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