Literature DB >> 50299

Neuroichthyosis with hypogonadism (Rud's syndrome).

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.

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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


  3 in total

1.  Familial spastic paraplegia with Kallmann's syndrome.

Authors:  R R Tuck; B P O'Neill; H Gharib; D W Mulder
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-07       Impact factor: 10.154

2.  Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Authors:  M Münke; K Kruse; M Goos; H H Ropers; M Tolksdorf
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

3.  Rud's syndrome.

Authors:  K Pavani; B S N Reddy; B Amar Singh
Journal:  Indian Dermatol Online J       Date:  2014-04
  3 in total

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