Literature DB >> 6580169

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.

M Münke, K Kruse, M Goos, H H Ropers, M Tolksdorf.   

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.

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Year:  1983        PMID： 6580169     DOI： 10.1007/bf00445661

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  31 in total

1.  Lamellar ichthyosis of the newborn. The "collodion baby": a clinical and genetic entity; report of a case and review of the literature with special consideration of pathogenesis and classification.

Authors:  D BLOOM; M S GOODFRIED
Journal:  Arch Dermatol       Date:  1962-09

2.  Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases.

Authors:  H T LYNCH; F OZER; C W MCNUTT; J E JOHNSON; N A JAMPOLSKY
Journal:  Am J Hum Genet       Date:  1960-12       Impact factor: 11.025

3.  The association of oligophrenia and dyskeratoses; a clinical investigation and an injury into its implication.

Authors:  J A EWING
Journal:  Am J Ment Defic       Date:  1956-01

4.  Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome.

Authors:  J H Passwell; R M Goodman; M Ziprkowski; B E Cohen
Journal:  Clin Genet       Date:  1975-07       Impact factor: 4.438

5.  [Rud's syndrome].

Authors:  V Predescu; D Christodorescu; M Alexianu; B Tudorache; R Ionescu; S Curelaru; E Constantinescu
Journal:  Rev Med Interna Neurol Psihiatr Neurochir Dermatovenerol Neurol Psihiatr Neurochir       Date:  1974 Oct-Dec

6.  The Rud syndrome: ichthyosis, hypogonadism, mental retardation.

Authors:  P S Nissley; G H Thomas
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06

7.  [The Rud syndrome. Description of a clinical case].

Authors:  M Luppi Ferrari
Journal:  Rass Neuropsichiatr       Date:  1966 Apr-Jun

8.  Familial ichthyosis, dwarfism, mental retardation, and renal disease.

Authors:  A Rayner; R P Lampert; O M Rennert
Journal:  J Pediatr       Date:  1978-05       Impact factor: 4.406

9.  Regional assignment of the gene locus for steroid sulfatase.

Authors:  C R Müller; A Westerveld; B Migl; W Franke; H H Ropers
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

10.  Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase.

Authors:  H Hameister; G Wolff; C H Lauritzen; W O Lehmann; A Hauser; H H Ropers
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132
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  10 in total

1.  Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder.

Authors:  T L Yang-Feng; G Opdenakker; G Volckaert; U Francke
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025

Review 2.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

Review 4.  The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes.

Authors:  M F Lyon
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

5.  Steroid sulphatase deficiency and hypogonadism.

Authors:  G Andria; A Ballabio; G Parenti; S DiMaio; A Piccirillo
Journal:  Eur J Pediatr       Date:  1984-09       Impact factor: 3.183

6.  Allergic disease as an association of steroid sulphatase deficiency.

Authors:  N Sakura; S Nishimura; T Matsumoto; M Ohsaki; T Ogata
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

7.  Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent.

Authors:  G Lykkesfeldt; J Müller; N E Skakkebaek; E Bruun; A E Lykkesfeldt
Journal:  Eur J Pediatr       Date:  1985-09       Impact factor: 3.183

8.  Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features.

Authors:  M L Arnold; I Anton-Lamprecht; H Albrecht-Nebe
Journal:  Arch Dermatol Res       Date:  1992       Impact factor: 3.017

Review 9.  Male fertility and skin diseases.

Authors:  M Badawy Abdel-Naser; Christos C Zouboulis
Journal:  Rev Endocr Metab Disord       Date:  2016-09       Impact factor: 9.306

10.  Rud's syndrome.

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

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