Lopes, Vera Lúcia Gil da SilvaGuion-Almeida, Maria LeineRodini, Elaine Sbroggio de Oliveira [UNESP]2014-05-272014-05-272003-09-01American Journal of Medical Genetics, v. 121 A, n. 3, p. 266-270, 2003.1552-4825http://hdl.handle.net/11449/67385We 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 and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.266-270engAnkyloblepharonAnusAutosomal dominant inheritanceCleft lip/palateEctodermal dysplasiaImperforateIRF6 geneP63 geneinterferoninterferon regulatory factor 6protein p53unclassified druganus atresiablepharocheilodontic syndromeclinical examinationclinical featuredisease coursefamilial diseasefamily historygestation periodhypothyroidismmental developmentmotor developmentphenotypephysical examinationpreschool childpriority journalBlepharophimosisCleft LipCleft PalateDiagnosis, DifferentialDNA-Binding ProteinsFamily HealthHypothyroidismInterferon Regulatory FactorsMembrane ProteinsPhenotypePhosphoproteinsSyndromeTooth AbnormalitiesTrans-ActivatorsTranscription FactorsTumor Suppressor ProteinsArtigo10.1002/ajmg.a.20223Acesso restrito2-s2.0-0141837207