title: Blepharocheilodontic (BCD) syndrome: expanding the phenotype?
abstract: 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 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.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil. vlopes@fcm.unicamp.br
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil da Silva Lopes
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: Elaine Sbroggio
authors.initials: ES
authors.lastname: de Oliveira Rodini
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001006:Anus, Imperforate / Q000235:genetics* / Q000473:pathology; D016569:Blepharophimosis / Q000235:genetics* / Q000473:pathology; D001938:Brazil; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D050835:Interferon Regulatory Factors; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins
chemical_list: C081876:CKAP4 protein, human; D004268:DNA-Binding Proteins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D008565:Membrane Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins