Gorlin-Chaudhry-Moss Syndrome
General: Etiology unknown.
Ocular: Microphthalmia; hypertelorism; depressed supraorbital ridges; inability to open or close lids fully because of incomplete lid development; antimongoloid, oblique palpebral fissures; sparse eyelash development; lid defect (notching); horizontal nystagmus at extreme lateral gaze; limited upper gaze; astigmatism; marked hyperopia; corneal scars (possibly due to exposure keratitis); keratoconus.
Clinical: Craniofacial dysostosis; saddled appearance of upper face; high-arched, narrow palate; dental anomalies (size, number, position); hypertrichosis; hypoplasia of labia majora; patent ductus arteriosus; normal mental development; fatigue; frontal headache.
Cohen MM, Putnam TI. An 18p21 q translocation in patient with presumptive 'monosomy G.' Am J Dis Child 1972; 124:908.
Gorlin RJ. Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies. J Pediatr 1960; 56:778.
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/.
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