Literature DB >> 1149323

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

J H Passwell, R M Goodman, M Ziprkowski, B E Cohen.   

Abstract

A new congenital ichthyotic syndrome inherited as an autosomal recessive is described in three propositi of an Iranian family. The main clinical features are non-bullous congenital ichthyosis, mental retardation, dwarfism, and renal impairment. The nephropathy which previously has not been associated with congenital ichthyosis was manifested by raised blood urea nitrogen and creatinine levels, and a reduced creatinine clearance. The clinical and genetic features of this syndrome are discussed in relationship to the other congenital ichthyotic syndromes.

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Year:  1975        PMID: 1149323     DOI: 10.1111/j.1399-0004.1975.tb01955.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome.

Authors:  J E Deal; T M Barratt; M J Dillon
Journal:  Pediatr Nephrol       Date:  1990-07       Impact factor: 3.714

2.  Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

Authors:  P S Harper; R Marks; P J Dykes; I D Young
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

3.  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

4.  A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters.

Authors:  Burcu Karaca
Journal:  Ann Saudi Med       Date:  2012 Sep-Oct       Impact factor: 1.526

  4 in total

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