Jeune syndrome associated with cystinuria: report of two sisters.
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.
Rinaldi
S
S
Division of Nephrology and Dialysis, Bambino Gesú Children's Hospital, Rome, Italy.
Dionisi-Vici
C
C
Goffredo
B
B
Dallapiccola
B
B
Rizzoni
G
G
D001238:Asphyxia Neonatorum / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003555:Cystinuria / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000235:genetics*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*