A second family with blepharo-naso-facial syndrome.
We report a mother and son with expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. The only other family known to exhibit this constellation of features was reported by Pashayan and colleagues 23 years ago [ Pashayan et al. (1973) Am J Dis Child 125:389--393]. The similarity between these two families and a kindred described by Sommer, in which a PAX3 mutation has been defined, suggests that a developmental gene abnormality might be the cause of the blepharo-naso-facial syndrome. To date, studies of PAX3 have failed to reveal a mutation.
Allanson
Judith E
JE
Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada. allanson@cheo.on.ca
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009666:Nose / Q000002:abnormalities*; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D013577:Syndrome; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse