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• W2313501247 abstract "Waardenburg-Klein syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness.The clinical and genetic aspects of this syndrome were studied.Investigation on this syndrome was aroused in 1968 when a five-year-old girl, who had all of the features except white forelock, complained of the congenital deafness.Fourteen hundred and twenty eight pupils at ten schools for the deaf in Tokyo were screened for the features of this syndrome. Twelve probands and a complete pedigree were discovered. Recently a new additional case was discovered.In the pedigree, proband had all of the features, mother had four features without heterochromia iridum and confluent eyebrows, and she showed unilateral deafness in left ear. Two siblings (brother and sister) had slightly dystopia canthorum and broad nasal root only.Two out of fifteen cases had all of the features, another two cases had all of the features except white forelock, and another eleven cases showed three or four features of this syndrome.In this series the interocular measurements of Japanese, twenty subjects of both sexes and of age from two to twenty years were used to provide normal standard. Interocular index recommended by Partington was also used on judging the presense of dystopia in Japanese.Three cases had palpebral ptosis of both sides. One of them combined with epicanthus inversus, but showed no dystopia. Stiff ptosis may be an equivalent for dystopia.Isochromic blue eyes were present in Japanese cases.Relationship between the side of the heterochromia iridum and that of the deaf ear was discussed. Bilateral heterochromia tended to combine with total deafness. But no relationship was revealed in cases of unilateral heterochromia.One case showed a remarkable disturbance of the vestibular function. But optokinetic pattern of nystagmus was normal.X-ray findings of the temporal bone showed not only various degrees of cochlear apparatus, but also that of vestibular apparatus.Combination of signs of this syndrome was divided into two groups; a group of deafness, eyelid deformity and heterochromia, and that of deafness, heterochromia and grey hair.Incidence of this syndrome was 1.4 per cent of the congenital deafness in Tokyo. This value coincided with that of Waardenburg's finding in the Netherlands.Chromosomal analysis in one case with this syndrome revealed normal karyotype.Autosomal dominant transmission was present in one pedigree. But in another cases recessive transmission may be present in this series." @default.
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• W2313501247 date "1969-01-01" @default.
• W2313501247 modified "2023-10-16" @default.
• W2313501247 title "Clinical and Genetic Study of Waardenhurg-Klein Syndrome in Japanese" @default.
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• W2313501247 doi "https://doi.org/10.4295/audiology.12.57" @default.
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