Soares L F, Souza I P R, Cardoso A S, Pomarico L
Department of Oral Diagnosis and Oral Pathology, School of Dentistry, Federal University of Rio De Janeiro, Rio de Janeiro, Brazil.
J Indian Soc Pedod Prev Dent. 2008 Jan;26 Suppl 1:S23-5.
Pyknodysostosis is a rare, genetic, autosomal recessive condition characterized by short stature, generalized bone sclerosis, and oral manifestations such as maxillary atresia and an increase of the mandibular angle. The main purpose of this article was to report a case of pyknodysostosis, describing the characteristic orofacial findings of the disease and discussing the differential diagnosis.
致密性骨发育不全是一种罕见的、遗传性的常染色体隐性疾病,其特征为身材矮小、全身性骨质硬化以及口腔表现,如下颌骨闭锁和下颌角增大。本文的主要目的是报告一例致密性骨发育不全病例,描述该疾病典型的口面部表现并探讨鉴别诊断。