Van den Houten B R, Ten Kate L P, Gerding J C
Int J Oral Surg. 1985 Apr;14(2):113-25. doi: 10.1016/s0300-9785(85)80082-x.
The Hajdu-Cheney syndrome or acro-osteolysis syndrome is a rare disease. Only 18 well-documented cases are described in the literature. Presentation of cases in the oral surgical literature is rare. The syndrome is characterized by dissolution of terminal phalanges of the hands and feet, dolichocephaly, open cranial sutures, multiple wormian bones, absence of frontal sinuses, wide open sella turcica, progressive basilar invagination, early loss of teeth, short stature and characteristic facies. Inheritance is most likely autosomal dominant. 3 patients are presented, 2 of them are mother and son, the latter (case 2) being the youngest patient reported to date. The parents of the 3rd patient were consanguineous, raising the possibility of genetic heterogeneity. Dental, surgical and genetic aspects are discussed.
哈伊杜－切尼综合征或肢端骨质溶解综合征是一种罕见疾病。文献中仅描述了18例有充分记录的病例。口腔外科文献中病例的呈现很少见。该综合征的特征为手足末端指骨溶解、长头畸形、颅缝开放、多发缝间骨、额窦缺如、蝶鞍宽大开敞、进行性基底凹陷、牙齿早失、身材矮小和特征性面容。遗传方式很可能为常染色体显性遗传。本文报告了3例患者，其中2例为母子，后者（病例2）是迄今为止报告的最年轻患者。第3例患者的父母是近亲，增加了遗传异质性的可能性。文中讨论了牙科、外科和遗传学方面的问题。
