一名白种人患歌舞伎综合征。

Kabuki make-up syndrome in a Caucasian.

作者信息

Pagon R A, Downing A L, Ruvalcaba R H

出版信息

Ophthalmic Paediatr Genet. 1986 Aug;7(2):97-100. doi: 10.3109/13816818609076116.

Abstract

A 20-year-old Caucasian female with the Kabuki make-up syndrome had adolescent onset cataracts and delayed sexual maturation with evidence of primary ovarian dysfunction. These features have not been described in other patients with this disorder, all of whom have been younger. This patient also had cystic fibrosis, which may be a fortuitous association.

摘要

一名患有歌舞伎综合征的20岁白种女性出现青春期白内障和性成熟延迟，并伴有原发性卵巢功能障碍的证据。这些特征在该疾病的其他患者中尚未有描述，其他患者年龄均更小。该患者还患有囊性纤维化，这可能是一种偶然的关联。