Kaplan P, Ramos F, Zackai E H, Bellah R D, Kaplan B S
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania 19104, USA.
Am J Med Genet. 1995 Mar 13;56(1):25-30. doi: 10.1002/ajmg.1320560108.
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.
我们报告了2例无关的患有哈伊杜-切尼骨质溶解综合征的患者，他们患有囊性肾，其超声检查结果与常染色体显性多囊肾病相似。两人均无哈伊杜-切尼综合征或多囊肾的家族史，也无任何其他综合征的表现。基于这2例患者的发现以及对已发表病例的回顾，我们认为囊性肾是哈伊杜-切尼综合征的一个重要组成部分。
