Blepharo-Naso-Facial Malformation Syndrome 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 434f55e 154
General: Autosomal dominant.
Ocular: Telecanthus; lateral displacement of lacrimal puncta; lacrimal excretory obstruction.
Clinical: Masklike face; bulky nose; weak facial muscles; torsional dystonia; mental retardation.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Pashayan H, et al A family with blepharo-naso-facial malformations. Am J Dis Child 1973; 125:389-396.
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