Cystic kidney disease in Hajdu-Cheney syndrome.
We report on 2 unrelated patients with Hajdu-Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasonographic changes similar to those of autosomal dominant polycystic kidney disease. Neither had a family history of Hajdu-Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu-Cheney syndrome.
Kaplan
P
P
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania 19104, USA.
Ramos
F
F
Zackai
E H
EH
Bellah
R D
RD
Kaplan
B S
BS
D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010015:Osteolysis, Essential / Q000150:complications / Q000235:genetics*; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics*