眼瞼下垂を伴つたWaardenburg症候群の1例について

Waardenburg Syndrome with Blepharoptosis

I．緒言

　1951年，P．J．　Waardenburgが，眼瞼，鼻根部，眉毛の発育異常に，虹彩，頭髪などの色素異常や先天性聾を合併する症候群を発表し，以後前記の各症状を伴つた症候群は，彼の名に因んで，Waardenburg症候群と名付けられ，現在まで数多くのWaardenburg症候群としての報告例が，国内，国外にあるが，最近著者は眼瞼下垂を伴うWaardenburg症候群と考えられる症例に遭遇したのでここに報告する。

Waardenburg syndrome in a 15-year-old male with bilateral blepharoptosis is reported. No displacement of the inner canthi of the eye was present. Both irides were pale blue which is a rather rare occurrence in Japanese. Fundoscopic examinations showed diffuse depigmentary change of the fundus like ocular albinism, while the visual acuity was normal and no nystag-mus was present. Audiometric examinations revealed advanced bilateral perceptive loss of hearing. The eyebrows were confluent. There was sporadic graying of the hair.