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March 1973

A Family With Blepharo-Naso-Facial Malformations

Author Affiliations

From the Center for Craniofacial Anomalies (Drs. Pashayan and Pruzansky) and the Department of Opthalmology (Dr. Putterman), Abraham Lincoln School of Medicine, University of Illinois at the Medical Center, Chicago.

Am J Dis Child. 1973;125(3):389-393. doi:10.1001/archpedi.1973.04160030057011

Four members of one family present a syndrome of telecanthus, lateral displacement of the puncta from the inner canthi, lacrimal excretory obstruction, bulky nose, mask-like facies, torsion dystonia, and mental retardation. The pedigree is compatible with Mendelian autosomal dominant inheritance with variable expression.

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