Publicação: Blepharo-Cheilo-Dontic (BCD) syndrome: Report on four new patients
dc.contributor.author | Guion-Almeida, M. L. | |
dc.contributor.author | Rodini, E. S.O. [UNESP] | |
dc.contributor.author | Kokitsu-Nakata, N. M. | |
dc.contributor.author | Bologna-Amantini, D. | |
dc.contributor.institution | Universidade de São Paulo (USP) | |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | |
dc.date.accessioned | 2022-04-28T19:54:49Z | |
dc.date.available | 2022-04-28T19:54:49Z | |
dc.date.issued | 1998-03-05 | |
dc.description.abstract | We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia. Two were sporadic cases and two were familial cases, a mother and her equally affected son. Recently, the reports with different combination of these signs were reviewed by Gorlin et al. [1996; Am J Med Genet 65:109-112] and named blepharocheilo-dontic (BCD) syndrome. Variable expressivity and autosomal dominant inheritance were observed. © 1998 Wiley-Liss, Inc. | en |
dc.description.affiliation | Serviço de Genética Clínica Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais Universidade de São Paulo, Bauru, SP | |
dc.description.affiliation | Departamento de Ciências Biológicas Faculdade de Ciências Universidade Estadual Paulista, Bauru, SP | |
dc.description.affiliation | Serviço de Genética Clínica Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais USP, Bauru, SP CEP 17043-900 | |
dc.description.affiliationUnesp | Departamento de Ciências Biológicas Faculdade de Ciências Universidade Estadual Paulista, Bauru, SP | |
dc.format.extent | 133-136 | |
dc.identifier | http://dx.doi.org/10.1002/(sici)1096-8628(19980305)76:2<133 | |
dc.identifier.citation | American Journal of Medical Genetics, v. 76, n. 2, p. 133-136, 1998. | |
dc.identifier.doi | 10.1002/(sici)1096-8628(19980305)76:2<133 | |
dc.identifier.issn | 1552-4833 | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.scopus | 2-s2.0-0032485073 | |
dc.identifier.uri | http://hdl.handle.net/11449/224112 | |
dc.language.iso | eng | |
dc.relation.ispartof | American Journal of Medical Genetics | |
dc.source | Scopus | |
dc.subject | Ankyloblepharon | |
dc.subject | Dental anomaly | |
dc.subject | Ectropion | |
dc.subject | Euryblepharon | |
dc.subject | Facial clefting | |
dc.subject | Lagophthalmia | |
dc.title | Blepharo-Cheilo-Dontic (BCD) syndrome: Report on four new patients | en |
dc.type | Artigo | |
dspace.entity.type | Publication | |
unesp.department | Ciências Biológicas - FC | pt |