Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Elaine Sbroggio de Oliveira Rodini"'
Publikováno v:
American Journal of Medical Genetics. :266-270
We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b6ed7b265f89633b7de3075b4ae994
https://doi.org/10.1002/ajmg.a.20223
https://doi.org/10.1002/ajmg.a.20223
Autor:
Nancy Mizue Kokitsu-Nakata, Maria Leine Guion-Almeida, Elaine Sbroggio de Oliveira Rodini, D. Bologna-Amantini
Publikováno v:
American Journal of Medical Genetics. 76:133-136
USP, Serv Genet Clin, Hosp Pesquisa & Reabilitacao Lesoes Labio Palatai, BR-17043900 Bauru, SP, Brazil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a80b51fa178307b6618befc3d5c7e0bc
https://doi.org/10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co
Autor:
Elaine Sbroggio de Oliveira Rodini, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Nélio A. J. Oliveira, Maria Rita Passos-Bueno
Publikováno v:
Clinical dysmorphology. 16(3)
In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his men
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb331e3b676b5cab3d4b64b58047a38
https://pubmed.ncbi.nlm.nih.gov/17551329
https://pubmed.ncbi.nlm.nih.gov/17551329
Publikováno v:
American Journal of Medical Genetics. 57:377-379
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c092415cd09b4ea4123c7d874e862b73
https://doi.org/10.1002/ajmg.1320570302
https://doi.org/10.1002/ajmg.1320570302
Publikováno v:
American Journal of Medical Genetics. 38:539-541
We report on a Brazilian boy with ectrodactyly, cleft lip/palate, and abnormal pinnae. The clinical aspects involving this patient strongly suggest those reported by Lewis and Pashayan in 1981. Clinical and genetic aspects are discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da91a716ee94e86b6543e32c0f936363
https://doi.org/10.1002/ajmg.1320380408
https://doi.org/10.1002/ajmg.1320380408
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. 37(1)
We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1163904379a0212cab3c9294dc9a39bc
https://pubmed.ncbi.nlm.nih.gov/2240042
https://pubmed.ncbi.nlm.nih.gov/2240042
Publikováno v:
American journal of medical genetics. 36(4)
We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. The similarities of these 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6406563321557488242ea374ed0bf30f
https://pubmed.ncbi.nlm.nih.gov/2167611
https://pubmed.ncbi.nlm.nih.gov/2167611
Autor:
Elaine Sbroggio de Oliveira Rodini, Siulan Vendramini, Maria Leine Guion-Almeida, Ligiane Alves Machado-Paula
Publikováno v:
American Journal of Medical Genetics Part A. :1616-1616
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ece48688699fb799ab972efdfd76a7a
https://doi.org/10.1002/ajmg.a.30141
https://doi.org/10.1002/ajmg.a.30141
Publikováno v:
American Journal of Medical Genetics. 44:388-388
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bde39799560e8343c425db5832828d1e
https://doi.org/10.1002/ajmg.1320440327
https://doi.org/10.1002/ajmg.1320440327