Lenoble-aubineau syndrome (nystagmus-myoclonia syndrome)

General: Familial; pathogenesis not known; prevalent in males; man 242b18c ifest during first years of life; X-linked dominant inheritance has been reported in one family.

Ocular: Congenital nystagmus associated with fasciculations of muscles spontaneously elicited by mechanical stimulation or cold.

Clinical: Tremors of head and limbs; myoclonic movements of extremities and trunk; hypospadias; abnormalities of teeth; facial asymmetry; localized edema.

Lenoble E, Aubineau E. Nystagmus-Myoclonia Syndrome: Une Variete Nouvelle de Myoclonie Congenitale Pouvant Etre Hereditaire et Familiale A Nystagmus Constant. Rev Med (Paris) 1906; 26:471.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th 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/.