Literature DB >> 26581700

Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient.

Parul Singhal1, Anita Singhal2, Cheranjeevi Jayam1, Anila Bandlapalli3.   

Abstract

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, presents with a wide range of variability. Dentists are often the first to encounter patients with CCD, some of whom do not show typical manifestations. Since it has similar features to other pathologies, CCD is misdiagnosed as other conditions. A 10-year-old boy suffering from CCD was misdiagnosed as having rickets and was referred for non-eruption of a few permanent teeth along with an unaesthetic facial appearance. Clinically and radiologically, a diagnosis of CCD was made. Currently, management of this patient's orofacial manifestations is underway. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 26581700      PMCID: PMC4654131          DOI: 10.1136/bcr-2015-210514

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  21 in total

1.  Cleidocranial dysplasia: oral features and genetic analysis of 11 patients.

Authors:  A Bufalino; L M R Paranaíba; A F Gouvêa; L A Gueiros; H Martelli-Júnior; J J Junior; M A Lopes; E Graner; O P De Almeida; P A Vargas; R D Coletta
Journal:  Oral Dis       Date:  2011-10-24       Impact factor: 3.511

2.  Cleidocranial dysplasia: a report of two cases.

Authors:  D N Mehta; R V Vachhani; M B Patel
Journal:  J Indian Soc Pedod Prev Dent       Date:  2011 Jul-Sep

3.  RUNX2 mutations in cleidocranial dysplasia patients.

Authors:  H-M Ryoo; H-Y Kang; S-K Lee; K-E Lee; J-W Kim
Journal:  Oral Dis       Date:  2009-09-08       Impact factor: 3.511

4.  Cranioplasty for midline metopic suture defects in adults with cleidocranial dysplasia.

Authors:  Taylor P McGuire; Petrus P Gomes; David K Lam; George K B Sándor
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod       Date:  2006-08-10

Review 5.  Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review.

Authors:  I Golan; U Baumert; B P Hrala; D Müssig
Journal:  Dentomaxillofac Radiol       Date:  2003-11       Impact factor: 2.419

6.  Development of the dentition in cleidocranial dysplasia.

Authors:  B L Jensen; S Kreiborg
Journal:  J Oral Pathol Med       Date:  1990-02       Impact factor: 4.253

Review 7.  Delayed tooth eruption: pathogenesis, diagnosis, and treatment. A literature review.

Authors:  Lokesh Suri; Eleni Gagari; Heleni Vastardis
Journal:  Am J Orthod Dentofacial Orthop       Date:  2004-10       Impact factor: 2.650

8.  Delayed diagnosis of cleidocranial dysplasia in an adult: a case report.

Authors:  Cengiz Gömleksiz; Erhan Arslan; Selçuk Arslan; Serhat Pusat; Elif Acar Arslan
Journal:  Acta Med Acad       Date:  2014

9.  Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family.

Authors:  Shengguo Wang; Shu Zhang; Yanmin Wang; Yangxi Chen; Li Zhou
Journal:  Int J Clin Exp Med       Date:  2013-10-25

10.  Early craniofacial signs of cleidocranial dysplasia.

Authors:  I Golan; U Baumert; B P Hrala; D Müssig
Journal:  Int J Paediatr Dent       Date:  2004-01       Impact factor: 3.455

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  3 in total

1.  Dental Prosthetic Treatments in Cleidocranial Dysplasia: Case Report and Literature Review.

Authors:  Yosra Mabrouk; Sinda Ammar; Amel Labidi; Lamia Mansour; Sonia Ghoul
Journal:  Case Rep Dent       Date:  2020-12-19

2.  Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.

Authors:  Liyuan Yang; Genqi Lu; Wenjing Shen; Wenjing Chen; Haiyan Lu; Guozhong Zhang; Shuo Yuan; Shushen Zheng; Jiabao Ren
Journal:  Medicine (Baltimore)       Date:  2021-11-12       Impact factor: 1.817

3.  Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

Authors:  Sermporn Thaweesapphithak; Jirawat Saengsin; Wuttichart Kamolvisit; Thanakorn Theerapanon; Thantrira Porntaveetus; Vorasuk Shotelersuk
Journal:  J Appl Oral Sci       Date:  2022-06-06       Impact factor: 3.144

  3 in total

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