Síndrome de Waardenburg: relato de um caso clínico
Syndrome of Waardenburg is a hereditary disease of dominant autosomic inheritance, in the majority of the cases with variable expressivity and penetrance, that if characterizes for congenital, deafness, dystopia canthorum, alterations to pigment of the iris and the hair. It is caused by locate...
| Autor principal: | FERREIRA, Juliano Rocha |
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| Outros Autores: | AIRES, Lincoln Antonio |
| Grau: | Trabalho de Conclusão de Curso - Graduação |
| Publicado em: |
2022
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https://bdm.ufpa.br:8443/jspui/handle/prefix/4673 |
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oai:https:--bdm.ufpa.br:8443:prefix-46732022-11-11T03:06:14Z Síndrome de Waardenburg: relato de um caso clínico FERREIRA, Juliano Rocha AIRES, Lincoln Antonio SOARES, Cláudio Galeno de Miranda http://lattes.cnpq.br/4256635240351794 MAZIVIERO, Silvana Nobre de Assis http://lattes.cnpq.br/3338392997071424 https://orcid.org/0000-0003-1773-5700 Síndrome de Waardenburg Surdez Alteração pigmentar Syndrome of Waardenburg Deafness Alteration to pigment CNPQ::CIENCIAS DA SAUDE::MEDICINA Syndrome of Waardenburg is a hereditary disease of dominant autosomic inheritance, in the majority of the cases with variable expressivity and penetrance, that if characterizes for congenital, deafness, dystopia canthorum, alterations to pigment of the iris and the hair. It is caused by located genetic mutations in chromosomes 2 and 3. The findings most important are: alterations in the pigmentation of the skin and annexes, and neurosensorial congenital deafness that finishes for bringing alterations in the linguistic development of the carrier. In the social context, its importance is on the insertion of the individual as a whole, over all when sensorial problems are gifts. The diagnosis of the illness is made through the comment of the classic phenotypes signals of the illness, beyond audiologic evaluation, analysis of the desoxirribonucleic acid (DNA), beyond histopathologic analysis of the hypochromics injuries and the internal ear. One is about an individual, observational study, predominantly descriptive, type case report, that objectified to tell a carrier of Syndrome of Waardenburg taken care of in a university hospital. The attendance was carried through the ambulatory level, through serial outpatient visit. One identified prematurely gray of hair, hypoisocromic bilateral iris, absence of dystopia canthorum, neurosensorial congenital bilateral deafness, alterations to pigment in left foot, hypoplasia nasal and dysplasia alterations in average face; index W was of 1,4951. The emotional alterations had demonstrated to behavior for times aggressive with caregiver, fact aggravated for the auditory deficiency of the patient. Síndrome de Waardenburg é uma nosologia hereditária de herança autossômica dominante, na maioria dos casos com expressividade e penetrância variável, que se caracteriza por surdez congênita, distopia canthorum, alterações pigmentares da íris e dos cabelos. É causada por mutações genéticas localizados nos cromossomos 2 e 3. Os achados mais importantes são: alterações na pigmentação da pele e anexos, e surdez congênita neurosensorial que acaba por trazer alterações no desenvolvimento lingüístico do portador. No contexto social, sua importância está ligada a inserção do indivíduo como um todo, sobretudo quando problemas sensoriais estão presentes. O diagnóstico da doença é feito através da observação dos sinais fenotípicos clássicos da doença, além de avaliação audiológica, análise do ácido desoxirribonucléico (DNA), além de análise histopatológica das lesões hipocrômicas e da orelha interna. Trata-se de um estudo individual, observacional, predominantemente descritivo, tipo relato de caso, que objetivou relatar um portador de Síndrome de Waardenburg atendido em um hospital universitário. O atendimento foi realizado a nível ambulatorial, através de consultas seriadas. Identificou-se encanecimento precoce, hipoisocromia iridiana bilateral, ausência de distopia canthorum, surdez neurosensorial bilateral congêntia, alterações pigmentares em pé esquerdo, hipoplasia nasal e alterações displásicas em face média; o índice W foi de 1,4951. As alterações emocionais demonstraram comportamento por vezes agressivo com cuidadora, fato agravado pela deficiência auditiva do paciente. 2022-11-10T16:32:05Z 2022-11-10T16:32:05Z 2009 Trabalho de Conclusão de Curso - Graduação FERREIRA, Juliano Rocha; AIRES, Lincoln Antonio. Síndrome de Waardenburg: relato de um caso clínico. Orientador: Cláudio Galeno de Miranda Soares. 2009. 120 f. Trabalho de Conclusão de Curso (Bacharelado em Medicina)-Faculdade de Medicina, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2009. Disponível em:https://bdm.ufpa.br:8443/jspui/handle/prefix/4673. Acesso em:. https://bdm.ufpa.br:8443/jspui/handle/prefix/4673 Acesso Aberto 1 CD ROM |
| institution |
Biblioteca Digital de Monografias - UFPA |
| collection |
MonografiaUFPA |
| topic |
Síndrome de Waardenburg Surdez Alteração pigmentar Syndrome of Waardenburg Deafness Alteration to pigment CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| spellingShingle |
Síndrome de Waardenburg Surdez Alteração pigmentar Syndrome of Waardenburg Deafness Alteration to pigment CNPQ::CIENCIAS DA SAUDE::MEDICINA FERREIRA, Juliano Rocha Síndrome de Waardenburg: relato de um caso clínico |
| topic_facet |
Síndrome de Waardenburg Surdez Alteração pigmentar Syndrome of Waardenburg Deafness Alteration to pigment CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| description |
Syndrome of Waardenburg is a hereditary disease of dominant autosomic inheritance, in the
majority of the cases with variable expressivity and penetrance, that if characterizes for
congenital, deafness, dystopia canthorum, alterations to pigment of the iris and the hair. It is
caused by located genetic mutations in chromosomes 2 and 3. The findings most important
are: alterations in the pigmentation of the skin and annexes, and neurosensorial congenital
deafness that finishes for bringing alterations in the linguistic development of the carrier. In
the social context, its importance is on the insertion of the individual as a whole, over all
when sensorial problems are gifts. The diagnosis of the illness is made through the comment
of the classic phenotypes signals of the illness, beyond audiologic evaluation, analysis of the
desoxirribonucleic acid (DNA), beyond histopathologic analysis of the hypochromics injuries
and the internal ear. One is about an individual, observational study, predominantly
descriptive, type case report, that objectified to tell a carrier of Syndrome of Waardenburg
taken care of in a university hospital. The attendance was carried through the ambulatory
level, through serial outpatient visit. One identified prematurely gray of hair, hypoisocromic
bilateral iris, absence of dystopia canthorum, neurosensorial congenital bilateral deafness,
alterations to pigment in left foot, hypoplasia nasal and dysplasia alterations in average face;
index W was of 1,4951. The emotional alterations had demonstrated to behavior for times
aggressive with caregiver, fact aggravated for the auditory deficiency of the patient. |
| author_additional |
SOARES, Cláudio Galeno de Miranda |
| author_additionalStr |
SOARES, Cláudio Galeno de Miranda |
| format |
Trabalho de Conclusão de Curso - Graduação |
| author |
FERREIRA, Juliano Rocha |
| author2 |
AIRES, Lincoln Antonio |
| author2Str |
AIRES, Lincoln Antonio |
| title |
Síndrome de Waardenburg: relato de um caso clínico |
| title_short |
Síndrome de Waardenburg: relato de um caso clínico |
| title_full |
Síndrome de Waardenburg: relato de um caso clínico |
| title_fullStr |
Síndrome de Waardenburg: relato de um caso clínico |
| title_full_unstemmed |
Síndrome de Waardenburg: relato de um caso clínico |
| title_sort |
síndrome de waardenburg: relato de um caso clínico |
| publishDate |
2022 |
| url |
https://bdm.ufpa.br:8443/jspui/handle/prefix/4673 |
| _version_ |
1787155338758193152 |
| score |
11.753735 |