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 23thinsp;years ago lsqb;Pashayan et al. (1973)Am J Dis Child125colon;389--393rsqb;. The similarity between these two families and a kindred described by Sommer, in which aPAX3mutation has been defined, suggests that a developmental gene abnormality might be the cause of the blepharo-naso-facial syndrome. To date, studies ofPAX3have failed to reveal a mutation.
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