Oculopalatoskeletal Syndrome
General: Autosomal recessive; d 323h72d evelopmental defect of eye and occipital bone; skeletal abnormalities.
Ocular: Triad of blepharophimosis, blepharoptosis, and epicanthus inversus; corneal stromal opacities; limitation of upward gaze.
Clinical: Cleft lip/palate; spina bifida occulta; cranial asymmetry; radioulnar synostosis; short fifth finger; abnormality of occipital bone.
Cunniff C, Jones KL. Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. Am J Med Genet 1990; 37:28-30.
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/.
Michels VV, et al. A clefting syndrome and ocular anterior chamber defect and lid anomalies. J Pediatr 1978; 93: 444-446.
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