Blepharocheilodontic (BCD) syndrome: expanding the phenotype?
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.
Gil da Silva Lopes
Vera Lúcia
VL
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil. vlopes@fcm.unicamp.br
Guion-Almeida
Maria Leine
ML
de Oliveira Rodini
Elaine Sbroggio
ES
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
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