Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sonia Cristina Silveira Pereira"'
Autor:
Maria Leine Guion-Almeida, Sonia Cristina Silveira Pereira, Antonio Richieri-Costa, Christiane M. G. Rocha
Publikováno v:
American Journal of Medical Genetics. 44:274-279
We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c44e80946c979cec1fbd73b4bfbeb88c
https://doi.org/10.1002/ajmg.1320440303
https://doi.org/10.1002/ajmg.1320440303
Publikováno v:
American Journal of Medical Genetics. 47:707-709
We report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402bdc165137bb5de1b52d5f10f4ebab
https://doi.org/10.1002/ajmg.1320470524
https://doi.org/10.1002/ajmg.1320470524
Autor:
Sonia Cristina Silveira Pereira, Antonio Richieri-Costa, M. Michael Cohen, Maria Leine Guion-Almeida, Elaine Sbroggio de Oliveira Rodini
Publikováno v:
American journal of medical genetics. 46(6)
A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57abae9b86e68b008cc21eac85ec07c
https://pubmed.ncbi.nlm.nih.gov/8362901
https://pubmed.ncbi.nlm.nih.gov/8362901
Publikováno v:
American journal of medical genetics. 42(5)
We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4132b9af95952a3f4d6bd7ebb213507c
https://pubmed.ncbi.nlm.nih.gov/1632438
https://pubmed.ncbi.nlm.nih.gov/1632438
Autor:
Daniela Vera Cruz dos Santos
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Objetivos: determinar o número de indivíduos com fissura labiopalatina não sindrômica (FLPNS) no núcleo familiar; determinar a presença de consanguinidade parental na presente casuística; descrever as eventuais anomalias menores observadas na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09bd9683a34394f4e5b1b7752def37a6
https://doi.org/10.11606/d.61.2012.tde-19072012-145337
https://doi.org/10.11606/d.61.2012.tde-19072012-145337
Autor:
T Y Kamiya
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Objetivos: Caracterização de síndromes em indivíduos com FL/P associadas a MAC e anomalias cromossômicas e ampliação dos espectros fenotípicos de síndromes já descritas. Local de execução: Laboratório de Citogenética Humana e Serviço d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bbb7fe89fab940bb84f55e7c68b4344
https://doi.org/10.11606/t.61.2009.tde-19112009-092630
https://doi.org/10.11606/t.61.2009.tde-19112009-092630
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Objetivo: Investigar a prevalência de disgenesias dentárias em indivíduos com síndrome Richieri-Costa-Pereira. Material e Métodos: 13 indivíduos, registrados no Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4819ee54402d431a9ca77cc32f629704