Cranial Nerves, Congenital Paresis
Cranial Nerves, Congenital Paresis
General: Autosomal recessive; damage to peripheral nerve and brainstem.
Ocular: Paralysis of pupillary sphincter; oculomotor synkinesis; ptosis; exotropia; hypotropia; amblyopia; diplopia.
Clinical: Vascular lesion from damage to peripheral nerve and brainstem; generalized developmental delay; seizures; facial paralysis; malformed external ears; abnormalities of motor system of arms and legs.
Balkan R, et al. Associated abnormalities in congenital third nerve palsies. Am J Ophthalmol 1984; 97:315-319.
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/.
General: Autosomal recessive; damage to peripheral nerve and brainstem.
Ocular: Paralysis of pupillary sphincter; oculomotor synkinesis; ptosis; exotropia; hypotropia; amblyopia; diplopia.
Clinical: Vascular lesion from damage to peripheral nerve and brainstem; generalized developmental delay; seizures; facial paralysis; malformed external ears; abnormalities of motor system of arms and legs.
Balkan R, et al. Associated abnormalities in congenital third nerve palsies. Am J Ophthalmol 1984; 97:315-319.
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/.
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