| Literature DB >> 50299 |
R R Maldonado, L Tamayo, A Carnevale.
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.Entities:
Mesh:
Year: 1975 PMID: 50299 DOI: 10.1111/j.1365-4362.1975.tb00124.x
Source DB: PubMed Journal: Int J Dermatol ISSN: 0011-9059 Impact factor: 2.736