内眼角側方偏位のないワーデンブルグ症候群の２例

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タイトル別名
  • Two Cases of Waardenburg's Syndrome without Dystopia Canthorum
  • ナイ メカドガワ カタヘンイ ノ ナイ ワーデンブルグ ショウコウグン ノ 2

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説明

A man and his son with Waardenburg's syndrome (WS) Type-2 (WS without dystopia Canthorum) were presented in this paper. It was characteristic in both patients that heterochromia iridum had been observed only in infancy and motor development, such as that of walking, was retarded. Unilateral blephalo-ptosis was observed in one of them.<br>Among those who are diagnosed as WS with heterochromia iridum and congenital deafness, there are some patients who have different accompanying symptoms from those diagnosed to be WS Type-1 (WS with dystopia Canthorum) and who do not show autosomal dominant inheritance unlike WS Type-1. Therefore, WS is supposed to be genetically heterogenous. The two patients reported here have accompanying symptoms different from those of the patients previously described as WS. These patients also demonstrate the heterogeneity of WS.

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