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Cystic kidney disease in Hajdu‐Cheney syndrome

1995; Wiley; Volume: 56; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320560108

1096-8628

Paige Kaplan, Feliciano J. Ramos, Elaine H. Zackai, Richard D. Bellah, Bernard S. Kaplan,

Microtubule and mitosis dynamics

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.