Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome.
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.
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000097:blood; D004392:Dwarfism / Q000097:blood / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007057:Ichthyosis / Q000097:blood / Q000151:congenital* / Q000235:genetics; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics*; D007674:Kidney Diseases / Q000097:blood / Q000235:genetics*; D008297:Male; D009584:Nitrogen / Q000097:blood; D010375:Pedigree; D012867:Skin / Q000473:pathology; D013577:Syndrome
D003404:Creatinine; D009584:Nitrogen