| Literature DB >> 1149323 |
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.Entities:
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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