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.
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.
D002648:Child; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007057:Ichthyosis / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000032:analysis; D013577:Syndrome
D013429:Sulfatases; D043266:Steryl-Sulfatase