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伴有性腺功能减退的神经鱼鳞病(鲁德综合征)。

Neuroichthyosis with hypogonadism (Rud's syndrome).

作者信息

Maldonado R R, Tamayo L, Carnevale A

出版信息

Int J Dermatol. 1975 Jun;14(5):347-52. doi: 10.1111/j.1365-4362.1975.tb00124.x.

Abstract

Rud's syndrome is a neuroichthyosis with hypogonadism, associated with mental deficiency and epilepsy. Short stature is a frequent component of the syndrome. The primary genetic defect and the pattern of inheritance have not yet been determined. A typical patient is presented, with mental deficiency, short stature, pypoacusia, muscular atrophy, tylosis, pseudoacanthosis nigricans and endocrine disturbances. The neuroichthyosis with hypogonadism must be considered Rud's syndrome. A classification of neuroichthyosis is proposed. In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or spasticity.

摘要

鲁德综合征是一种伴有性腺功能减退的神经鱼鳞病,与智力缺陷和癫痫有关。身材矮小是该综合征的常见特征。其原发性基因缺陷和遗传模式尚未确定。本文介绍了一名典型患者,有智力缺陷、身材矮小、听觉减退、肌肉萎缩、胼胝形成、假性黑棘皮病和内分泌紊乱。伴有性腺功能减退的神经鱼鳞病必须考虑为鲁德综合征。本文提出了一种神经鱼鳞病的分类方法。第一组为伴有性腺功能减退的神经鱼鳞病,第二组为伴有痉挛的神经鱼鳞病,第三组为不伴有性腺功能减退或痉挛的神经鱼鳞病。

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