Literature DB >> 2260554

Jeune syndrome associated with cystinuria: report of two sisters.

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.

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Year:  1990        PMID: 2260554     DOI: 10.1002/ajmg.1320370302

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound.

Authors:  Kewal A Mistry; Pokhraj P Suthar; Siddharth R Bhesania; Ankitkumar Patel
Journal:  Pol J Radiol       Date:  2015-06-07
  1 in total

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