Alves Pereira Daniela, Berini Aytés Leonardo, Gay Escoda Cosme
School of Dentistry, University of Barcelona, Spain.
Med Oral Patol Oral Cir Bucal. 2008 Oct 1;13(10):E633-5.
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, the nose beaked, the mandibular angle obtuse, and both maxilla and mandible hypoplastic. Dental abnormalities and impaction are observed, as well as alterations in eruption and frequent dental crowding. The differential diagnosis is established with osteopetrosis, cleidocranial dysplasia and idiopathic acro-osteolysis. This article reviews the clinical and radiographic characteristics of pycnodysostosis based on three clinical cases of patients with this disease.
致密性骨发育不全是一种罕见的临床病症，1962年由马罗泰克斯和拉米首次描述。它是一种遗传性疾病，通常在幼年时被诊断出来。然而，由于骨密度增加导致严重的骨质脆弱，有时会因骨折而延迟诊断。这种疾病的口腔颌面表现非常明显。头部通常较大，鼻子呈鹰嘴状，下颌角钝圆，上颌和下颌均发育不全。观察到牙齿异常和阻生，以及萌出改变和频繁的牙列拥挤。需与骨硬化症、锁骨颅骨发育不全和特发性肢端骨质溶解症进行鉴别诊断。本文基于三例致密性骨发育不全患者的临床病例，回顾了致密性骨发育不全的临床和影像学特征。
