Weleber R G, Beals R K
J Pediatr. 1976 Feb;88(2):243-9. doi: 10.1016/s0022-3476(76)80989-4.
The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.
哈伊杜－切尼综合征包括身材矮小、特征性面容以及一种影响颅骨、脊柱和长骨的缓慢进展性骨骼发育异常。本文报告了两名患有该综合征的患者。在第一名患者中，最显著的骨骼特征——肢端骨质溶解，在6岁时未出现，但在11岁时出现。在第二名患者中，由于存在其他典型表现，尽管没有肢端骨质溶解，仍作出了诊断。该综合征会出现影响视力、听力和牙列的异常情况，这些异常连同该综合征的其他特征性体格和影像学表现，应能在肢端骨质溶解出现之前作出诊断。
