Eye findings in the blepharo-naso-facial malformation syndrome.

A family was studied with ocular and sys­ temic anomalies that seem to represent a pre­ viously undefined syndrome. The hallmarks of this syndrome are accessory nasal eyelid tissue with secondary displacement of the lacrimal puncta from the inner canthi, telecanthus, masklike faciès, bulky nose, torsion dystonia, and mental retardation. The mother and three of five siblings manifest the syndrome, while the father and the remaining two siblings are normal. The pedigree is compatible with a mendelian autosomal dominant gene with variable expres­ sivity.