Balaji M S Anandi, Sundaram R Kanmani Shanmuga, Karthik Poornima, Asokan Kannan
Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, Chennai, India.
Indian J Dent. 2014 Oct;5(4):218-21. doi: 10.4103/0975-962X.144738.
Pycnodysostosis, a sclerosing bone dysplasia, is a rare autosomal recessive disorder with an estimated prevalence rate of one in one million. Patients with pycnodyostosis usually have normal intelligence, sexual development and life span. This condition is characterized by increased bone density and fragility along with oral manifestations like malposition teeth, hypoplastic maxilla, receded chin and delayed eruption of permanent teeth with discharging sinuses in the jaws because of poor blood supply. This is one such rare case report of a 47-year-old patient presenting with a complaint of fractured jaw and reviewing the clinical and radiographic characteristics of pycnodysostosis.
致密性骨发育不全症是一种硬化性骨发育异常，是一种罕见的常染色体隐性疾病，估计患病率为百万分之一。致密性骨发育不全症患者通常智力、性发育和寿命正常。这种疾病的特征是骨密度增加和骨质脆弱，同时伴有口腔表现，如牙齿错位、上颌骨发育不全、下巴后缩以及恒牙萌出延迟，由于血液供应不良，颌骨出现排脓窦。这是一例47岁患者因下颌骨骨折就诊的罕见病例报告，并回顾了致密性骨发育不全症的临床和影像学特征。
