Cleidocranial dysplasia: Spectrum of clinical and radiological findings in seven cases

• Main Authors: Shikha Gupta (Author), Sunita Gupta (Author), Khushboo Singh (Author), Prajat Arora (Author), Sinny Goel (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2321-385X; 10.4103/2321-3841.157525
• Keywords: Cleidocranial; dysostosis; dysplasia; Marie-Sainton; Dentistry; RK1-715; Medical physics. Medical radiology. Nuclear medicine; R895-920
• Source: Journal of Oral and Maxillofacial Radiology, Vol 3, Iss 2, Pp 58-62 (2015)

Introduction: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder primarily affecting bones, which undergo membranous ossification. It commonly presents with significant dental and facial problems, including the hypoplastic maxilla, retained primary teeth, unerupted permanent teeth and supernumerary teeth. It is usually diagnosed based on clinical and radiographic findings, which are pathognomic. Here, we report clinical and radiographic findings of 7 patients with CCD who reported to our Institute during 2013-2014. Results: Age of patient ranged from 13 to 55 years, out of which 5 were males and 2 were females. Characteristic clinical findings, which were present in all cases include frontal and parietal bossing, brachycephalic skull, hypertelorism, broad nasal bridge and shoulder hypermobility. Radiographic findings seen were hypoplasia/aplasia of the clavicle, open skull suture, wide, open fontanel, and the presence of impacted permanent and supernumerary teeth. In one case, there was follicular cyst associated with impacted mandibular canine. Conclusion: Successful treatment involves a multidisciplinary approach and involves timely diagnosis at an early stage of development