Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas
Autor(a) principal: | |
---|---|
Data de Publicação: | 2006 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://dx.doi.org/10.2223/JPED.1441 http://repositorio.unifesp.br/handle/11600/2927 |
Resumo: | OBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis. |
id |
UFSP_20f0fa7d6c02bb1a5ebbe625a19933e1 |
---|---|
oai_identifier_str |
oai:repositorio.unifesp.br/:11600/2927 |
network_acronym_str |
UFSP |
network_name_str |
Repositório Institucional da UNIFESP |
repository_id_str |
3465 |
spelling |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticasMonozygotic twins discordant for Goldenhar syndromeGoldenhar syndrometwinningdiagnosisSíndrome de GoldenhargemelaridadediagnósticoOBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis.OBJETIVO: Relatar um par de gêmeas monozigóticas, no qual uma das crianças é afetada pela síndrome de Goldenhar, enquanto a outra é saudável. DESCRIÇÃO: Paciente do sexo feminino, filha de pais sadios, jovens e não consangüíneos. A propósita nasceu de parto cesáreo pré-termo com Capurro somático de 35 semanas e 2 dias, pesando 2.170 g, com 42,5 cm de comprimento, perímetro cefálico de 30 cm e Apgar 3/7. Ao nascimento, a criança evoluiu com desconforto respiratório grave, sendo transferida para unidade de tratamento intensivo neonatal. A outra gemelar nasceu com 3.200 g, 49 cm de comprimento, 34 cm de perímetro cefálico e Apgar 8/10. Foi transferida junto com a mãe para o alojamento conjunto da maternidade e recebeu alta com 2 dias de vida. A criança afetada apresentava hipoplasia facial esquerda, micrognatia importante, displasia de pavilhão auricular e apêndices pré-auriculares bilaterais e dermóide epibulbar à direita. Evoluiu com apnéia obstrutiva, em conseqüência da micrognatia, e necessitou de traqueostomia. As ultra-sonografias de crânio e abdome foram normais, a radiografia de coluna total mostrou hemivértebra em T9/T10, o ecocardiograma detectou tetralogia de Fallot, e o cariótipo realizado a partir de linfócitos de sangue periférico com bandeamento GTG foi 46,XX. A avaliação oftalmológica foi normal. O exame molecular provou tratar-se de gêmeas monozigóticas com 99,99% de probabilidade. COMENTÁRIO: A clínica e os exames complementares levaram ao diagnóstico de síndrome de Goldenhar. Existem relatos de gemelares afetados por essa condição com expressividade variável, o que corrobora a hipótese de que a etiologia não é puramente genética, mas resultado de um processo de disrupção vascular no período de morfogênese.Centro Universitário Barão de Mauá Faculdade de MedicinaHospital Santa Casa de Misericórdia de Ribeirão PretoUniversidade Federal de São Paulo (UNIFESP)UNIFESP, EPM, Sao Paulo, BrazilSciELOSociedade Brasileira de PediatriaCentro Universitário Barão de Mauá Faculdade de MedicinaHospital Santa Casa de Misericórdia de Ribeirão PretoUniversidade Federal de São Paulo (UNIFESP)Verona, Leonardo LimaDamian, Nicholas Godoy CanazzaPavarina, Lucimara P.Ferreira, Cristina H. F.Melo, Débora Gusmão [UNIFESP]2015-06-14T13:31:58Z2015-06-14T13:31:58Z2006-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion75-78application/pdfhttp://dx.doi.org/10.2223/JPED.1441Jornal de Pediatria. Sociedade Brasileira de Pediatria, v. 82, n. 1, p. 75-78, 2006.10.2223/JPED.1441S0021-75572006000100015.pdf0021-7557S0021-75572006000100015http://repositorio.unifesp.br/handle/11600/2927porJornal de Pediatriainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-10-10T10:58:58Zoai:repositorio.unifesp.br/:11600/2927Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-10-10T10:58:58Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.none.fl_str_mv |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas Monozygotic twins discordant for Goldenhar syndrome |
title |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas |
spellingShingle |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas Verona, Leonardo Lima Goldenhar syndrome twinning diagnosis Síndrome de Goldenhar gemelaridade diagnóstico |
title_short |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas |
title_full |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas |
title_fullStr |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas |
title_full_unstemmed |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas |
title_sort |
Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas |
author |
Verona, Leonardo Lima |
author_facet |
Verona, Leonardo Lima Damian, Nicholas Godoy Canazza Pavarina, Lucimara P. Ferreira, Cristina H. F. Melo, Débora Gusmão [UNIFESP] |
author_role |
author |
author2 |
Damian, Nicholas Godoy Canazza Pavarina, Lucimara P. Ferreira, Cristina H. F. Melo, Débora Gusmão [UNIFESP] |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Centro Universitário Barão de Mauá Faculdade de Medicina Hospital Santa Casa de Misericórdia de Ribeirão Preto Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Verona, Leonardo Lima Damian, Nicholas Godoy Canazza Pavarina, Lucimara P. Ferreira, Cristina H. F. Melo, Débora Gusmão [UNIFESP] |
dc.subject.por.fl_str_mv |
Goldenhar syndrome twinning diagnosis Síndrome de Goldenhar gemelaridade diagnóstico |
topic |
Goldenhar syndrome twinning diagnosis Síndrome de Goldenhar gemelaridade diagnóstico |
description |
OBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1. COMMENT: Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-02-01 2015-06-14T13:31:58Z 2015-06-14T13:31:58Z |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.2223/JPED.1441 Jornal de Pediatria. Sociedade Brasileira de Pediatria, v. 82, n. 1, p. 75-78, 2006. 10.2223/JPED.1441 S0021-75572006000100015.pdf 0021-7557 S0021-75572006000100015 http://repositorio.unifesp.br/handle/11600/2927 |
url |
http://dx.doi.org/10.2223/JPED.1441 http://repositorio.unifesp.br/handle/11600/2927 |
identifier_str_mv |
Jornal de Pediatria. Sociedade Brasileira de Pediatria, v. 82, n. 1, p. 75-78, 2006. 10.2223/JPED.1441 S0021-75572006000100015.pdf 0021-7557 S0021-75572006000100015 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Jornal de Pediatria |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
75-78 application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
biblioteca.csp@unifesp.br |
_version_ |
1814268449500692480 |