Hajdu-Cheney综合症

B.R. Van Den Houten , L.P. Ten Kate , J.C. Gerding
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引用次数: 28

摘要

Hajdu-Cheney综合征或肢端骨溶解综合征是一种罕见的疾病。文献中只描述了18个有充分记录的病例。在口腔外科文献中,病例的呈现是罕见的。该综合征的特点是手足端指骨溶解,头状畸形,颅缝开放,多根虫状骨,额窦缺失,蝶鞍大开口,颅底进行性内陷,早期牙齿脱落,身材矮小和特征相。遗传最可能是常染色体显性。3例患者,其中2例为母子,后者(病例2)是迄今为止报道的最年轻的患者。第三例患者父母系近亲,可能存在遗传异质性。牙科,外科和遗传方面的讨论。
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The Hajdu-Cheney syndrome

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.

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