Tanaka Jefferson L O, Ono Evelise, Filho Edmundo Médici, Castilho Julio C M, Moraes Luiz C, Moraes Mari E L
Department of Oral Diagnosis and Oral Surgery, Dentistry School of Sao Jose dos Campos, Sao Paulo State University, Brazil.
J Oral Sci. 2006 Sep;48(3):161-6. doi: 10.2334/josnusd.48.161.
Cleidocranial dysplasia (CCD) is a rare syndrome usually caused by an autosomal dominant gene, although 40% of cases of CCD appear spontaneously with no apparent genetic cause. This condition is characterized by several cranial malformations and underdevelopment, absence of the clavicles, and multiple supernumerary and impacted permanent teeth. The diagnosis of this condition is usually based on the presence of the main features (supernumerary teeth, partial or total absence of one or both the clavicles, and bony malformations) and on clinical and familial evidence. The bony and dental features of CCD may be visualized on radiographic images of the face and skull. Here, we present a familial case of CCD and discuss the importance of dental radiographs in diagnosis of the condition.
锁骨颅骨发育不全(CCD)是一种罕见的综合征,通常由常染色体显性基因引起,尽管40%的CCD病例是自发出现的,没有明显的遗传原因。这种病症的特征是多种颅骨畸形和发育不全、锁骨缺失以及多颗额外牙和阻生恒牙。这种病症的诊断通常基于主要特征(额外牙、一侧或双侧锁骨部分或完全缺失以及骨骼畸形)的存在以及临床和家族证据。CCD的骨骼和牙齿特征可以在面部和颅骨的X光影像上显现出来。在此,我们呈现一例CCD家族病例,并讨论牙科X光片在该病症诊断中的重要性。