Craniofacial, Deafness, Hand Syndrome
Craniofacial, Deafness, Hand Syndrome
General: Autosomal dominant.
Ocular: Hypertelorism.
Clinical: Flat facial profile; hypoplastic nose with slitlike nares; hearing loss; ulnar deviation of hands.
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/.
Sommer A, et al. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 1983; 15:71-77.
General: Autosomal dominant.
Ocular: Hypertelorism.
Clinical: Flat facial profile; hypoplastic nose with slitlike nares; hearing loss; ulnar deviation of hands.
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/.
Sommer A, et al. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 1983; 15:71-77.
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