ISSN:
1432-1076
Keywords:
Rud syndrome
;
Ichthyosis
;
Hypogonadism
;
Mental retardation
;
Epilepsy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases. Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00445661
Permalink