Craniofrontonasal Dysplasia
Craniofrontonasal Dysplasia
General: Sex-linked; unexplained higher prevalence in females.
Ocular: Down-slanting palpebral fissures; hypertelorism.
Clinical: Coronal synostosis; brachycephaly; clefting of the nasal tip; joint anomalies; longitudinally grooved fingernails; other digital anomalies.
Keve J, et al. Craniofrontonasal dysostosis: variable expression in a three-generation family. Clin Genet 1992; 38: 441-446.
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: http://www.ncbi.nlm.nih.gov/omim/.
Reynolds JF, et al. Craniofrontonasal dysplasia: A new family. Proc Greenwood Genet Center 1983; 2:115.
General: Sex-linked; unexplained higher prevalence in females.
Ocular: Down-slanting palpebral fissures; hypertelorism.
Clinical: Coronal synostosis; brachycephaly; clefting of the nasal tip; joint anomalies; longitudinally grooved fingernails; other digital anomalies.
Keve J, et al. Craniofrontonasal dysostosis: variable expression in a three-generation family. Clin Genet 1992; 38: 441-446.
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: http://www.ncbi.nlm.nih.gov/omim/.
Reynolds JF, et al. Craniofrontonasal dysplasia: A new family. Proc Greenwood Genet Center 1983; 2:115.
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