| Literature DB >> 2260554 |
S Rinaldi1, C Dionisi-Vici, B Goffredo, B Dallapiccola, G Rizzoni.
Abstract
Jeune syndrome is generally lethal in the first months of life. Surviving patients develop progressive renal failure and hepatic fibrosis. We describe 2 sisters, aged 7 and 2 years, respectively, who had Jeune syndrome associated with cystinuria. To our knowledge, this is the first reported association of these 2 autosomal recessive disorders.Entities:
Mesh:
Year: 1990 PMID: 2260554 DOI: 10.1002/ajmg.1320370302
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299