Waardenburg症候群の1家系について

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Waardenburg described in 1951 the syndrome with which his name is associated.The main components of the syndrome are:1) Dystopia canthi medialis lateroversa2) Hyperplasia radicis nasi3) Hyperplasia supercilii medialis4) Poliosis—White forelock5) Heterochromia iridum6) Unilateral or bilateral neural deafnessWaardenburg's syndrome is inherited as a Mendelian dominant but the various features are not always found together in any given case, according to the penetrance and expressivity of the genes.In this case, a 4 year old boy has pale blue eyes without any other eye anomalies and in our E. N. T. clinic, he was also found to have a congenital neural deafness on the right side, by E. R. A. system.In addetion, he also had the characteristics of 1) and 3) listed above.The latter 2 characteristics were also evident in the grandmother, mother and one of the uncles.They do not, however, show any other anomalies.This syndrome is considered to be transmitted through the maternal genes.
耳鼻咽喉科臨床学会の論文