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Journal articles on the topic 'Cleidocranial dysplasia review'

Author: Grafiati

Published: 4 September 2021

Last updated: 29 July 2025

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1

Puvabanditsin, Surasak, Melissa February, Julia Mayne, Jennifer McConnell, and Rajeev Mehta. "Cleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion." Cleft Palate-Craniofacial Journal 55, no. 6 (2018): 891–94. http://dx.doi.org/10.1597/15-306.

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Objective: The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion. Design: A PubMed search using “cleidocranial dysplasia syndrome (CCD)” or “6p microdeletion” was performed. Articles with information relevant to our case were obtained for review. A new case of cleidocranial dysplasia syndrome is presented to describe and discuss clinical manifestations, pathogenesis, clinical progression of cleidocranial dysplasia syndrome, and management. Results: There were 22 articles with reports of cleidocrani

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2

Teslenco, Vítor Bruno, Maylson Alves Nogueira Barros, Everton Floriano Pancini, Herbert de Abreu Cavalcanti, and Guilherme Nucci dos Reis. "Hiperdontia em paciente portadora de displasia cleidocraniana, acompanhamento de 14 anos: relato de caso." ARCHIVES OF HEALTH INVESTIGATION 9, no. 6 (2020): 553–56. http://dx.doi.org/10.21270/archi.v9i6.4774.

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Introdução: Anomalias de forma, tamanho, formato, número, estrutura, e erupção dentária são comumente vistas dentro da odontologia. Dentre elas temos a hiperdontia ou dentes suprenumerários. A etiologia desta patologia não foi realmente esclarecida, porém estas anormalidades são gerenciadas por um complexo sistema de interação genética e ambiental. Objetivo: relatar à comunidade científica um caso diagnosticado como displasia cleidocraniana, onde foram removidos 34 dentes supranumerários de uma paciente. Relato de caso: Paciente do gênero feminino, 12 anos de idade, diagnosticada com displasia

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3

Alfadil, Lina, Paras Jiteshkumar Haria, Priya Haria, et al. "A review of the dental management of cleidocranial dysplasia." Orthodontic Update 18, no. 1 (2025): 33–44. https://doi.org/10.12968/ortu.2025.18.1.33.

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Cleidocranial dysplasia, linked to a mutation in the RUNX2 gene, is characterized by defective endochondral and intra-membranous bone formation. General features include a combination of aplasia or hypoplasia of one or both clavicles, a short skull, delayed ossification of the fontanelles and short stature. Dental anomalies include delayed exfoliation of primary teeth, multiple supernumerary teeth and multiple impacted teeth. The dental management of such cases is complicated. This review summarizes the multiple treatment strategies for the dental management of cleidocranial dysplasia. Combine

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4

Mabrouk, Yosra, Sinda Ammar, Amel Labidi, Lamia Mansour, and Sonia Ghoul. "Dental Prosthetic Treatments in Cleidocranial Dysplasia: Case Report and Literature Review." Case Reports in Dentistry 2020 (December 19, 2020): 1–8. http://dx.doi.org/10.1155/2020/8910798.

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Cleidocranial dysplasia (CCD) is a rare inherited skeletal syndrome. There is no consensus regarding the dental treatment strategy. Objectives. To report a rare case of cleidocranial dysplasia and to summarize the current clinical and dental features and prosthetic treatment of similar CCD patients reported in the literature. Results. A 17-year-old girl was diagnosed with CCD. She had a short stature with the ability to bring the shoulders under the chest. All remaining teeth were deciduous except the four first molars were permanent. The maxilla was hypoplastic with a relative prognathism of

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5

Avendaño, Andrea, Francisco Cammarata-Scalisi, Mochamad Fahlevi Rizal, et al. "Cleidocranial dysplasia. A molecular and clinical review." International Dental Research 8, no. 1 (2018): 35–38. http://dx.doi.org/10.5577/intdentres.2018.vol8.no1.6.

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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 th

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6

Jayachandran, S., and Virender Gombra. "Cleidocranial dysplasia: Report of 4 cases and review." Journal of Indian Academy of Oral Medicine and Radiology 20, no. 1 (2008): 23. http://dx.doi.org/10.4103/0972-1363.44357.

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7

Perez, Alexandre, Sarah Dib, Andreij Terzic, Delphine Courvoisier, and Paolo Scolozzi. "Survival of dental implants in patients with bone dysplasia: A systematic review." Discussion of Clinical Cases 8, no. 4 (2021): 8. http://dx.doi.org/10.5430/dcc.v8n4p8.

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Objective: This study used published studies to assess the survival rate of dental implants placed in patients with bone dysplasia of the maxillofacial region.Material and methods: An electronic search without a specified date range was performed using the MEDLINE, PubMed, EMBASE, Web of Science, and Cochrane databases. No gender or age restrictions were applied.Results: Eighteen publications were found that met the study’s criteria, reporting data on 18 patients with bone dysplasia including cleidocranial dysplasia (CDD), fibrous dysplasia (FD), florid cemento-osseous dysplasia (FCOD), and od

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8

Prata, Vitória Pigari, Geovanna Maria Ramos Porto De Souza, Luana Ferreira Oliveira, Giselle Juliana De Jesus, Valéria Cristina Lopes de Barros Rolim, and José Antonio Santos Souza. "Displasia cleidocraniana e a odontologia: revisão de literatura / Cleidocranial dysplasia and dentistry: literature review." Brazilian Journal of Health Review 4, no. 6 (2021): 26658–68. http://dx.doi.org/10.34119/bjhrv4n6-242.

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9

Zheng Shen, Chao Chun Zou, Rong Wang Yang, and Zheng Yan Zhao. "Cleidocranial Dysplasia: Report of 3 Cases and Literature Review." Clinical Pediatrics 48, no. 2 (2008): 194–98. http://dx.doi.org/10.1177/0009922808323107.

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10

Jain, Harshika, Akansha Budakoti, Rupali Pandey, Deepankar Misra, and Anish Kumar. "Cleidocranial Dysplasia: A Serendipitous Finding with Clinical Insights." Current Trends in Dentistry 2, no. 1 (2025): 51–54. https://doi.org/10.4103/ctd.ctd_5_25.

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Abstract Cleidocranial dysplasia (CCD) is an uncommon congenital condition that is distinguished by a distinct set of dental and skeletal abnormalities. Together with a clinical evaluation, the imaging results aid in making a conclusive diagnosis. It is crucial to comprehend the wide range of CCD symptoms to manage and treat the condition effectively. With an emphasis on the genetic etiologies, clinical presentation, radiological findings, and a review of recent research, this case report attempts to give a thorough account of a male patient with CCD who is 25 years old. The goal is to raise a

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11

Reddy, Dr Shishira Surapu, Dr Anulekha C.K, Dr M. Mounika Reddy, Dr Avinash Tejasvi M.L, Dr Archana Pokala, and Dr Mohammed Malik Afroz. "A Case of Cleidocranial Dysplasia with Historical and Current Review." Global Academic Journal of Dentistry and Oral Health 4, no. 3 (2022): 13–18. http://dx.doi.org/10.36348/gajdoh.2022.v04i03.001.

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Introduction: This article discusses about our case of cleidocranial dysplasia and a review for dental manifestation and management of these cases. This disorder has a genetic background and general manifestations of CCD are outlined and an overview is presented. History: CCD is one of the best studies and documented disease whose history dates back to the prehistoric times with first case documented by Greig in 1933 in the museum of royal college of surgeons in Edinburgh. In the year of 1871, Scheuthauer published cranial and non – cranial findings of CCD. Case Report: We present a case of a

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12

Bharti, Kusum, and Mridula Goswami. "Cleidocranial dysplasia: A report of two cases with brief review." Intractable & Rare Diseases Research 5, no. 2 (2016): 117–20. http://dx.doi.org/10.5582/irdr.2016.01022.

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13

Golan, I., U. Barmert, BP Hrala, and D. Müßig. "Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review." Dentomaxillofacial Radiology 33, no. 6 (2004): 422. http://dx.doi.org/10.1259/dmfr/13039909.

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14

Golan, I., U. Baumert, BP Hrala, and D. Müßig. "Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review." Dentomaxillofacial Radiology 32, no. 6 (2003): 347–54. http://dx.doi.org/10.1259/dmfr/63490079.

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15

Matthews-Brzozowska, Teresa, Dorota Hojan-Jezierska, Wawrzyniec Loba, Marta Worona, and Artur Matthews-Brzozowski. "Cleidocranial dysplasia-dental disorder treatment and audiology diagnosis." Open Medicine 13, no. 1 (2018): 1–8. http://dx.doi.org/10.1515/med-2018-0001.

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AbstractA review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of CCD symptoms that include hypoplastic or aplastic clavicles, impacted and supernumerary teeth, delayed closure of fontanelles and cranial sutures, impairment of the hearing system resulting in conductive hearing loss also occurs. Our own report is based on the case of a 12-year-old CCD pati

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16

Segal, Nili, and Moshe Puterman. "Cleidocranial dysplasia—Review with an emphasis on otological and audiological manifestations." International Journal of Pediatric Otorhinolaryngology 71, no. 4 (2007): 523–26. http://dx.doi.org/10.1016/j.ijporl.2006.11.021.

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17

Lizończyk, Barbara, Kinga Pielech, Maria Panaś, and Wojciech Stós. "Orthodontic treatment of patients with cleidocranial dysplasia Systematic review of the literature." Orthodontic Forum 16, no. 4 (2020): 307–17. http://dx.doi.org/10.5114/for.2020.102228.

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18

MURAMATSU, Yasunori, Akihide KAMEGAI, Syunsuke KUMASA, Noriyasu MURASE, and Kan-ichi SHIBATA. "A case of cleidocranial dysplasia and a review of the Japanese literature." Japanese Journal of Oral & Maxillofacial Surgery 34, no. 9 (1988): 1930–40. http://dx.doi.org/10.5794/jjoms.34.1930.

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19

Granado-Abasto, Laura A., Jhoana M. Llaguno-Rubio, Gustavo A. Fiori-Chíncaro, and Paola E. Medina-Ocampo. "Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review." Revista Científica Odontológica 9, no. 2 (2021): e063. http://dx.doi.org/10.21142/2523-2754-0902-2021-063.

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Cleidocranial dysplasia (CCD), also known as Marie-Sainton syndrome, is a rare disorder of autosomal dominant type that presents specific characteristics at the skeletal and dental level. The diagnosis of CCD is based on clinical and radiographic findings. Panoramic, cephalometric, and anterior poster radiographs have been used for its diagnosis in dentistry. However, these radiological techniques have limitations, and advances in technology with new imaging studies such as magnetic resonance imaging (MRI) and ultrasound have emerged, contributing to the diagnosis of CCD. Therefore, the aim of

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20

Balioğlu, Mehmet Bülent, Deniz Kargın, Akif Albayrak, and Yunus Atıcı. "The Treatment of Cleidocranial Dysostosis (Scheuthauer-Marie-Sainton Syndrome), a Rare Form of Skeletal Dysplasia, Accompanied by Spinal Deformities: A Review of the Literature and Two Case Reports." Case Reports in Orthopedics 2018 (July 9, 2018): 1–10. http://dx.doi.org/10.1155/2018/4635761.

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Cleidocranial dysostosis is a skeletal dysplasia inherited in an autosomal dominant manner and may lead to complications such as scoliosis and kyphosis, concurrent with various orthopedic involvements. Since concurrent spinal deformities are of progressive nature, surgical treatment may be necessary. In addition to other orthopedic problems, possible accompanying complications such as atlanto-axial subluxation, myelopathy, syringomyelia, congenital spine deformities, spondylosis, and spondylolisthesis should be kept in mind while planning for the treatment of scoliosis and kyphosis. Lengthenin

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21

Jonason, J. H., G. Xiao, M. Zhang, L. Xing, and D. Chen. "Post-translational Regulation of Runx2 in Bone and Cartilage." Journal of Dental Research 88, no. 8 (2009): 693–703. http://dx.doi.org/10.1177/0022034509341629.

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The Runx2 gene product is essential for mammalian bone development. In humans, Runx2 haploinsufficiency results in cleidocranial dysplasia, a skeletal disorder characterized by bone and dental abnormalities. At the molecular level, Runx2 acts as a transcription factor for genes expressed in hypertrophic chondrocytes and osteoblasts. Runx2 gene expression and protein function are regulated on multiple levels, including transcription, translation, and post-translational modification. Furthermore, Runx2 is involved in numerous protein-protein interactions, most of which either activate or repress

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22

Sekerci, Ahmet Ercan, Burhan Balta, Oğuzhan Bahadir, et al. "Cleidocranial dysplasia with a rare mutation: Study of a family with review of literature." Open Journal of Stomatology 03, no. 08 (2013): 402–10. http://dx.doi.org/10.4236/ojst.2013.38068.

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23

Yoshida, K., T. Yokoi, S. Mori, M. Achiwa, Y. Kuroiwa, and K. Kurita. "Abnormal ossification of the hyoid bone in cleidocranial dysplasia rare case and literature review." International Journal of Oral and Maxillofacial Surgery 46 (March 2017): 375–76. http://dx.doi.org/10.1016/j.ijom.2017.02.1263.

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24

Yadav, Anuradha, Chitrang Dixit, Kajal Malhotra, and C. A. Smriti. "Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature." Journal of Primary Care Dentistry and Oral Health 4, no. 3 (2023): 108–11. http://dx.doi.org/10.4103/jpcdoh.jpcdoh_26_23.

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Abstract Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decreased bone turnover. Some of the unique radiographic and clinical features distinguish it from other bone disorders, such as osteogenesis imperfect, osteopetrosis, and cleidocranial dysplasia. Recognition of these signs is important to make a diagnosis and prevent further complications. We

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25

Kumar, S. Manoj, Chandra Mouli, P. Mahesh Kumar, S. Kailasam, and S. Kailasam. "Cleidocranial Dysplasia in Son and Father: Report of Two Rare Cases with Review of Literature." Journal of Indian Academy of Oral Medicine and Radiology 24 (April 2012): 158–61. http://dx.doi.org/10.5005/jp-journals-10011-1285.

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26

Oyer, Calvin E., Nina G. Tatevosyants, Selina C. Cortez, Abby Hornstein, and Michael Wallach. "Cleidocranial Dysplasia with Neonatal Death Due to Central Nervous System Injury in Utero: Case Report and Literature Review." Pediatric and Developmental Pathology 1, no. 4 (1998): 314–18. http://dx.doi.org/10.1007/s100249900045.

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Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle

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27

Cano-Pérez, Eder, Claudio Gómez-Alegría, Fredy Pomares Herrera, Doris Gómez-Camargo, and Dacia Malambo-García. "Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America." Annals of Medicine and Surgery 77 (May 2022): 103611. http://dx.doi.org/10.1016/j.amsu.2022.103611.

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28

Kim, Woo-Jin, Hye-Lim Shin, Bong-Soo Kim, Hyun-Jung Kim, and Hyun-Mo Ryoo. "RUNX2-modifying enzymes: therapeutic targets for bone diseases." Experimental & Molecular Medicine 52, no. 8 (2020): 1178–84. http://dx.doi.org/10.1038/s12276-020-0471-4.

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Abstract RUNX2 is a master transcription factor of osteoblast differentiation. RUNX2 expression in the bone and osteogenic front of a suture is crucial for cranial suture closure and membranous bone morphogenesis. In this manner, the regulation of RUNX2 is precisely controlled by multiple posttranslational modifications (PTMs) mediated by the stepwise recruitment of multiple enzymes. Genetic defects in RUNX2 itself or in its PTM regulatory pathways result in craniofacial malformations. Haploinsufficiency in RUNX2 causes cleidocranial dysplasia (CCD), which is characterized by open fontanelle a

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29

Singh, Ankur, Mridula Goswami, Gaurav Pradhan, Min-Su Han, Je-Yong Choi, and Seema Kapoor. "Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases." Molecular Syndromology 6, no. 2 (2015): 83–86. http://dx.doi.org/10.1159/000375354.

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30

De Pellegrin, Maurizio, Dario Fracassetti, Lorenzo Marcucci, and Nicola Guindani. "Hip sonography: thirty-four years of experience in Italy." Exploration of Musculoskeletal Diseases 2, no. 2 (2024): 116–29. http://dx.doi.org/10.37349/emd.2024.00040.

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This paper provides a review of the years of experience of hip sonography since the first ultrasound (US) course in Italy in 1987. Clinical and US findings were correlated in 1,000 newborns examined consecutively in a study in 1991. Developmental dysplasia of the hip (DDH) was present even in the absence of clinical signs, including the Ortolani sign. The percentage of US diagnosis of DDH in newborns was 2.8%, while instability according to the Ortolani test was present in 0.75%. After recommendations from the American Academy of Pediatrics against universal US screening, early diagnosis decre

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31

Impellizzeri, A., G. Midulla, U. Romeo, C. La Monaca, E. Barbato, and G. Galluccio. "Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family." International Journal of Dentistry 2018 (July 4, 2018): 1–25. http://dx.doi.org/10.1155/2018/6591414.

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Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals, with complete penetrance and widely variable expressivity. Aim. To identify the incidence of these clinical findings in the report of the literature by means of PubMed interface from 2002 to 2015, with the related keywords. The report of local patients presents a clinical example, related to the therapeutic approach. Results and Discussions. The

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32

Roberts, Tina, Lawrence Stephen, and Peter Beighton. "Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 115, no. 1 (2013): 46–55. http://dx.doi.org/10.1016/j.oooo.2012.07.435.

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33

Nebgen, Denise, Robert S. Wood, and Robert D. Shapiro. "Management of a mandibular fracture in a patient with cleidocranial dysplasia: Report of a case and review of the literature." Journal of Oral and Maxillofacial Surgery 49, no. 4 (1991): 405–9. http://dx.doi.org/10.1016/0278-2391(91)90380-5.

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34

Fernandez, BA, J. Siegel-Bartelt, J.-AS Herbrick, I. Teshima, and SW Scherer. "Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature." Clinical Genetics 68, no. 4 (2005): 349–59. http://dx.doi.org/10.1111/j.1399-0004.2005.00498.x.

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35

Labidi, Amel, Sana Bekri, Lamia Mansour, and Sonia Ghoul-Mazgar. "Implants Placement in Contact with Dental Tissue: A Potential Paradigm Shift? Systematic Literature Review." European Journal of Dentistry 13, no. 04 (2019): 642–48. http://dx.doi.org/10.1055/s-0039-1697213.

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AbstractThe aim of this study was to explore the literature for clinical and histological data of an unconventional treatment with implants placement in contact with dental tissue (IPICDT) and to try to clarify its indications and surgical procedure particularities.Relevant publications published until May 2019 on the IPICDT were thoroughly reviewed. Search strategy was developed using a controlled vocabulary combination.Medline’s exploration and manual research identified 397 articles; 15 of these were selected after screening. IPICDT was indicated in three clinical situations: impacted teeth

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Karthik, AKaneesh, RabinK Chacko, SSibu Simon, S. Savitha, and SArun Paul. "A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol." Journal of Pharmacy and Bioallied Sciences 7, no. 6 (2015): 428. http://dx.doi.org/10.4103/0975-7406.163490.

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Modafferi, Clarissa, Elisabetta Tabolacci, Cristina Grippaudo, and Pietro Chiurazzi. "Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview." Genes 16, no. 2 (2025): 147. https://doi.org/10.3390/genes16020147.

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Primary failure of tooth eruption (PFE) is a rare genetic disorder characterized by the failure of teeth to erupt in the absence of obvious physical obstructions, often resulting in a progressive open bite that is resistant to orthodontic treatment. While PFE can be caused by genetic or systemic factors (such as cysts, tumors, and endocrine imbalances), the non-syndromic causes are primarily genetic, with an autosomal dominant inheritance pattern with variable expressivity. Several genes have been closely associated with the non-syndromic PFE form. The PTH1R (parathyroid hormone 1 receptor) is

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Haba, Danisia, Yllka Decolli, Emilia Marciuc, and Ana Elena Sîrghe. "Teeth Impaction and Structural Teeth Anomalies." Seminars in Musculoskeletal Radiology 24, no. 05 (2020): 523–34. http://dx.doi.org/10.1055/s-0040-1709210.

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AbstractDentists and oral and maxillofacial radiologists have used periapical, occlusal, panoramic, and cephalometric radiographs for many years for diagnosing dental anomalies, especially before orthodontic or surgical treatment. Cone beam computed tomography was developed in recent years especially for the dental and maxillofacial region. Thus it has become the imaging modality of choice for many clinical situations, such as the assessment of dental impaction and structural teeth anomalies or other associated diseases and disorders (e.g., Gardner's syndrome, cleidocranial dysplasia). This ar

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Tekwani, Revati, Hemangini Thakkar, and Aadesh Singh Parmar. "Unveiling Cleidocranial Dysplasia: An Antenatal Journey Through Ultrasound and Delivering the Importance of Taking Phenotype History; “Echoes of the Past”." Journal of Clinical Ultrasound, May 15, 2025. https://doi.org/10.1002/jcu.24082.

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ABSTRACTCleidocranial dysplasia (CCD) is an inherited condition predominantly affecting the clavicles and cranial structures. Advancements in prenatal imaging offer the potential for early detection. A 30‐year‐old pregnant woman came in for a review of 2nd trimester anomaly scan. The ultrasound suggested a diagnosis of non‐lethal skeletal dysplasia. Both parents were called in for counseling. The father was observed to have facial dysmorphism. An X‐ray examination clinched the final diagnosis of cleidocranial dysplasia, which was confirmed through whole exome sequencing. This case report highl

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40

Xue, Ru, Guoqing Zhang, Xiafang Chen, and Xiuxia Ye. "Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review." Frontiers in Genetics 12 (September 24, 2021). http://dx.doi.org/10.3389/fgene.2021.696685.

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Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, adm

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41

Vanguru, Raviteja, Swetha P, Ravikanth Manyam, Ramesh Tatapudi, and Sravani Pampana. "Non-syndromic bilateral dentigerous cyst in 9-year-old boy – case report and a literature review." Cumhuriyet Dental Journal, December 15, 2024. https://doi.org/10.7126/cumudj.1442498.

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Dentigerous cyst is a developmental odontogenic cyst that often develops in the second and third decades of life. This is one of the most common odontogenic cyst types that involve developing, or impacted teeth, partially erupted, accounting 20% of all jaw cysts. Dentigerous cysts are usually unilateral, bilateral presentations have been associated with syndromes such as cleidocranial dysplasia and Maroteaux–Lamy syndrome. However, they can occur without any syndrome association, but are extremely rare. This article reports the case of bilateral dentigerous cysts that is non-syndromic in a 9-y

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Thaweesapphithak, Sermporn, Kittipat Termteerapornpimol, Siriwong Wongsirisuwan, Soranun Chantarangsu, and Thantrira Porntaveetus. "The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review." Journal of Translational Medicine 22, no. 1 (2024). https://doi.org/10.1186/s12967-024-05904-2.

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Ch, Bhagya Sri, Harshavardhini R, Syam Kumar V, Ramakrishna K, Venkata Shiva A, and Sowjanya Kadari. "A review on yunis-varon syndrome." World Journal of Current Medical and Pharmaceutical Research, February 7, 2023, 16–19. http://dx.doi.org/10.37022/wjcmpr.v5i1.251.

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Yunis Varon Syndrome was first discovered by Emilio Yunis and Humberto Varon in the year 1980. It affects both genders in equal number. Most of the infants are with Cleidocranial dysplasia, ectodermal anomalities, distal aphalangia. By the characteristic features which including deformity of the pelvis, dislocation of hips , bone fracture, urinary tract abnormalities, central nervous system abnormalities by this they have reported the condition as Yunis Varon Syndrome. This is an autosomal recessive inherited multisystem disorder due to FIG4 gene mutations, consanguineous marriages, Lyso

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Bhardwaj, Nandini, Abhiney Puri, Vijay Wadhwan, and Monika Gupta. "Cleidocranial dysplasia associated with dentigerous cyst—review of literature and case report of two siblings." Indian Journal of Pathology and Microbiology, March 25, 2024. http://dx.doi.org/10.4103/ijpm.ijpm_532_23.

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ABSTRACT Cleidocranial dysplasia (CCD) is a developmental anomaly of the skeleton and teeth which may be inherited, be transmitted as dominant characteristics in either male or female or even appear spontaneously. A case was reported in the department of oral medicine and radiology of two sisters age 17 and 19 years old with a chief complaint of milk teeth not falling since childhood. They presented specific physical and oral findings in common which suggested the idea of an undiagnosed syndrome. The sisters showed CCD characteristics including short stature (4 feet) and frontal bone resorptio

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Cerutti, Matteo, Ana Beleza-Meireles, Rhoda Akilapa, ozturk ayse pinar, Rui Santos, and Alessandra Cocca. "Bone health in cleidocranial dysplasia: a large single-centre UK case series and literature review." Endocrine Abstracts, May 9, 2025. https://doi.org/10.1530/endoabs.110.p205.

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Zhu, Yanfei, Yin Zou, Qian Yu, et al. "Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature." Orphanet Journal of Rare Diseases 13, no. 1 (2018). http://dx.doi.org/10.1186/s13023-018-0959-3.

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Blionas, Alexandros, Gerhard M. Friehs, and Vasileios A. Zerris. "Hypophosphatasia and cleidocranial dysplasia—a case report and review of the literature: the role of the neurosurgeon." Child's Nervous System, June 15, 2021. http://dx.doi.org/10.1007/s00381-021-05261-1.

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Grillo, Ricardo, Luciano Pereira Madruga, Jeová Clementino de Almeida Júnior, Agnelo Lucamba, Claudio Roberto Pacheco Jodas, and Rubens Gonçalves Teixeira. "PECULIAR FEATURES AND SURGICAL APPROACH IN SYNDROMES WITH MAXILLOFACIAL IMPLICATIONS: A CASE SERIES AND UPDATED REVIEW." BULLETIN OF STOMATOLOGY AND MAXILLOFACIAL SURGERY, January 2023, 116–25. http://dx.doi.org/10.58240/1829006x-2023.19.1-116.

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Objectives: This paper aims to discuss some important aspects of surgical planning and treatment of some syndromes with maxillofacial implications. Methods: A case series of five different syndromes with maxillofacial implications was reported. We searched MEDLINE for a surgical approach to these maxillofacial syndromes. PROCESS guidelines have been adopted for the current case series. A Pearson correlation test was performed and considered significant only with a 95% confidence interval. Discussion: The number of publications on the subject of maxillofacial surgery is not related to the incid

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Pagnamenta, Alistair T., Mona Hashim, Joanna Kennedy, et al. "A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia." Clinical Genetics, February 2, 2025. https://doi.org/10.1111/cge.14709.

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ABSTRACTCBFB encodes the core‐binding factor β subunit, a small protein which heterodimerises with RUNX1‐3 and activates transcription of genes important in bone development. Recently, five families with cleidocranial dysplasia (CCD) were identified harbouring presumed loss of function variants in CBFB. Prompted by a multidisciplinary team review of an affected mother and daughter from the 100 000 Genomes Project with genetically unsolved CCD, we inspected read alignments and identified a deletion–inversion–deletion that removes the first two exons of CBFB. This cryptic variant comprised inter

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Faria-Teixeira, Maria Cristina, Cristina Tordera, Francisco Salvado e Silva, António Vaz-Carneiro, and Alejandro Iglesias-Linares. "Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis." Pediatric Research, February 12, 2024. http://dx.doi.org/10.1038/s41390-023-02907-5.

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Abstract Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions indexed in [Step#1] were explored in Medline, Pub

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