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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 2013;6(10):900-907
Original Article
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a
Chinese family
Shengguo Wang, Shu Zhang, Yanmin Wang, Yangxi Chen, Li Zhou
Department of Stomatology, Second Affiliated Hospital, Chongqing Medical University, Chongqing, China; Children’s Hospital,
Chongqing Medical University, Chongqing, China; Department of Orthodontics, West China College of Stomatology, Sichuan University,
Chengdu, China
Received September 24, 2013; Accepted October 22, 2013; Epub October 25, 2013; Published October 30, 2013
Abstract: Cleidocranial dysplasia syndrome (CCD) is a rare autosomal dominant disease with wide range of variability. Dentists are
often the first to encounter the CCD patients, some of whom do not show typical manifestations. Thus, dentists should be fully familiar
with clinical manifestations and gene mutation. A 16-year-old girl was admitted for orthodontic treatment because of space in the dental
arch and teeth irregularity. The introcession on the forehead and occiput suggests that she was a CCD patient. Clinical, radiological
and genetic examinations were carried out in this girl and her family members and results showed delayed closure of the fontanel,
hypoplastic clavicles and tooth anomalies of the girl and her mother. Genetic analysis revealed a 884C deletion in the exon 5 of the
CBFA1/RUNX2 gene, which has never been reported in China. In this reported, the manifestations, diagnostic process and treatment of
CCD were introduced according to the experience on the diagnosis of CCD in this family. (IJCEM1309025).
Keywords: Cleidocranial dysplasia syndrome, genetic analysis, family
Address correspondence to: Shengguo Wang, Department of Stomatology, Second Affiliated Hospital, Chongqing Medical University,
Chongqing, China. Tel: +8615823458851; E-mail: wangshengguo95@163.com
Original Article
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a
Chinese family
Shengguo Wang, Shu Zhang, Yanmin Wang, Yangxi Chen, Li Zhou
Department of Stomatology, Second Affiliated Hospital, Chongqing Medical University, Chongqing, China; Children’s Hospital,
Chongqing Medical University, Chongqing, China; Department of Orthodontics, West China College of Stomatology, Sichuan University,
Chengdu, China
Received September 24, 2013; Accepted October 22, 2013; Epub October 25, 2013; Published October 30, 2013
Abstract: Cleidocranial dysplasia syndrome (CCD) is a rare autosomal dominant disease with wide range of variability. Dentists are
often the first to encounter the CCD patients, some of whom do not show typical manifestations. Thus, dentists should be fully familiar
with clinical manifestations and gene mutation. A 16-year-old girl was admitted for orthodontic treatment because of space in the dental
arch and teeth irregularity. The introcession on the forehead and occiput suggests that she was a CCD patient. Clinical, radiological
and genetic examinations were carried out in this girl and her family members and results showed delayed closure of the fontanel,
hypoplastic clavicles and tooth anomalies of the girl and her mother. Genetic analysis revealed a 884C deletion in the exon 5 of the
CBFA1/RUNX2 gene, which has never been reported in China. In this reported, the manifestations, diagnostic process and treatment of
CCD were introduced according to the experience on the diagnosis of CCD in this family. (IJCEM1309025).
Keywords: Cleidocranial dysplasia syndrome, genetic analysis, family
Address correspondence to: Shengguo Wang, Department of Stomatology, Second Affiliated Hospital, Chongqing Medical University,
Chongqing, China. Tel: +8615823458851; E-mail: wangshengguo95@163.com
