Browse > Article
http://dx.doi.org/10.5624/isd.2018.48.4.283

Craniometaphyseal dysplasia: Report of 2 cases with an emphasis on panoramic imaging features  

Yeom, Han-Gyeol (Department of Oral and Maxillofacial Radiology and Dental Research Institute, School of Dentistry, Seoul National University)
Publication Information
Imaging Science in Dentistry / v.48, no.4, 2018 , pp. 283-287 More about this Journal
Abstract
Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterized by hyperostosis of the craniofacial bones and flared metaphyses of the long bones. Although some reports have described the dentomaxillofacial characteristics of CMD, including increased density of the jaw, malocclusion, and delayed eruption of the permanent teeth, only a few studies have reported the distinct imaging features of CMD on panoramic radiography. This report presents 2 cases of confirmed CMD patients with an emphasis on panoramic imaging features. The patients' images revealed hyperostosis and sclerosis of the maxilla and mandibular alveolar bone, but there was no change in the mandibular basal bone. In both cases, the mandibular condyle heads exhibited a short clubbed shape with hyperplasia of the coronoid process. For patients without clear otorhinolaryngological symptoms, common radiologic features of CMD could be visualized by routinely-taken panoramic radiographs, and further medical examinations and treatment can be recommended.
Keywords
Craniometaphyseal Dysplasia, Autosomal Dominant; Radiography, Panoramic;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Mintz S, Velez I. Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome. Dentomaxillofac Radiol 2004; 33: 262-6.   DOI
2 Hayashibara T, Komura T, Sobue S, Ooshima T. Tooth eruption in a patient with craniometaphyseal dysplasia: case report. J Oral Pathol Med 2000; 29: 460-2.   DOI
3 Lamazza L, Messina A, D'ambrosio F, Spink M, De Biase A. Craniometaphyseal dysplasia: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009; 107: e23-7.   DOI
4 Jackson WP, Albright F, Drewry G, Hanelin J, Rubin MI. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. AMA Arch Intern Med 1954; 94: 871-85.   DOI
5 Beighton P. Craniometaphyseal dysplasia (CMD), autosomal dominant form. J Med Genet 1995; 32: 370-4.   DOI
6 Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001; 68: 1321-6.   DOI
7 Richards A, Brain C, Dillon MJ, Bailey CM. Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol 1996; 110: 328-38.   DOI
8 Key LL Jr, Volberg F, Baron R, Anast CS. Treatment of craniometaphyseal dysplasia with calcitriol. J Pediatr 1988; 112: 583-7.   DOI
9 Day RA, Park TS, Ojemann JG, Kaufman BA. Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. Neurosurgery 1997; 41: 960-4.   DOI
10 Vanhoenacker F, De Beuckeleer L, Van Hul W, Balemans W, Tan G, Hill S, et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 2000; 10: 1423-33.   DOI
11 Sena Esteves S, Silva AP, Coutinho MB, Abrunhosa J, Almeida e Sousa C. Craniometaphyseal dysplasia and otolaryngology findings. Int J Pediatr Otorhinolaryngol Extra 2015; 10: 11-3.   DOI
12 Dutra EH, Chen IP, Reichenberger EJ. Dental abnormalities in a mouse model for craniometaphyseal dysplasia. J Dent Res 2013; 92: 173-9.   DOI
13 Thankappan S, Nair S. Craniometaphyseal dysplasia: a rare case in radiologic perspective. J Indian Acad Oral Med Radiol 2014; 26: 428-31.   DOI
14 Kim YH, Roh DH, Choi BY, Oh SH. Craniometaphyseal dysplasia. Acta Otolaryngol 2005; 125: 797-800.   DOI
15 Twigg V, Carr S, Peres C, Mirza S. Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: a case report and review of the literature. Int J Pediatr Otorhinolaryngol 2015; 79: 935-7.   DOI