Cleidocranial dysplasia. A molecular and clinical review

Andrea Avendaño(1), Francisco Cammarata-Scalisi(2), Mochamad Fahlevi Rizal(3), Sarworini Bagio Budiardjo(4), Margaretha Suharsini(5), Eva Fauziah(6), Nicola Maria Grande(7), Leonzio Fortunato(8), Gianluca Plotino(9), İzzet Yavuz(10), Michele Callea(11)
(1) Unidad de Genética Médica. Departamento de Puericultura y Pediatría. Universidad de Los Andes. Mérida, Venezuela,
(2) Unidad de Genética Médica. Departamento de Puericultura y Pediatría. Universidad de Los Andes. Mérida, Venezuela.,
(3) Department of Pediatric Dentistry, Faculty of Dentistry, Universitas Indonesia,
(4) Department of Pediatric Dentistry, Faculty of Dentistry, Universitas Indonesia,
(5) Department of Pediatric Dentistry, Faculty of Dentistry, Universitas Indonesia,
(6) Universitas Indonesia, Faculty of Dentistry, Department of Pediatric Dentistry, Jakarta, Indonesia,
(7) University of Magna Grecia (UMG), Department of Scienze Mediche e Chirurgiche, Catanzaro, Italy,
(8) University of Magna Grecia (UMG), Department of Scienze Mediche e Chirurgiche, Catanzaro, Italy,
(9) Private Practice, Rome, Italy,
(10) Dicle University, Faculty of Dentistry, Department of Pediatric Dentistry, Diyarbakir, Turkey,
(11) Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases leaving a large number of cases with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.



 


How to cite this article: Avendaño A, Cammarata-Scalisi F, Rizal MF, Budiardjo SB, Suharsini M, Fauziah E, Grande NM, Fortunato L, Plotino G, Yavuz I, Callea M. Cleidocranial dysplasia. A molecular and clinical review. Int Dent Res 2018;8(1):35-38.


 


Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.


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Authors

Andrea Avendaño
andrea.avendano1007@gmail.com (Primary Contact)
Francisco Cammarata-Scalisi
Mochamad Fahlevi Rizal
Sarworini Bagio Budiardjo
Margaretha Suharsini
Eva Fauziah
Nicola Maria Grande
Leonzio Fortunato
Gianluca Plotino
İzzet Yavuz
Michele Callea
Avendaño, A., Cammarata-Scalisi, F., Rizal, M. F., Budiardjo, S. B., Suharsini, M., Fauziah, E., Grande, N. M., Fortunato, L., Plotino, G., Yavuz, İzzet, & Callea, M. (2018). Cleidocranial dysplasia. A molecular and clinical review. International Dental Research, 8(1), 35-38. https://doi.org/10.5577/intdentres.2018.vol8.no1.6

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How to Cite

Avendaño, A., Cammarata-Scalisi, F., Rizal, M. F., Budiardjo, S. B., Suharsini, M., Fauziah, E., Grande, N. M., Fortunato, L., Plotino, G., Yavuz, İzzet, & Callea, M. (2018). Cleidocranial dysplasia. A molecular and clinical review. International Dental Research, 8(1), 35-38. https://doi.org/10.5577/intdentres.2018.vol8.no1.6
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