Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants—a clinical report

Schnutenhaus, Sigmar; Götz, Werner; Luthardt, Ralph G.

doi:10.1186/s40729-020-00287-7

Cited by 8 publications

(5 citation statements)

References 29 publications

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“…There is no standard and approved therapy for the clinical treatment of CCD, mainly because of the sparse number of cases and the comparatively low disease rate. The general consensus on dental treatment for patients with CCD is early intervention by combined therapy, that is, surgery and orthodontic treatment [32,33]. This presents the best chance for patients to maintain healthy, fully erupted teeth in proper occlusion.…”

Section: Discussionmentioning

confidence: 99%

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Pan

Meng

et al. 2023

European J Oral Sciences

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Cleidocranial dysplasia (CCD) is a rare, autosomal dominant hereditary disorder characterized by skeletal malformations and dental abnormalities. The purpose of this study was to explore the functional role of a novel mutation in the pathogenesis of CCD. Genomic DNA was extracted from peripheral blood mononuclear cells collected from family members of a Chinese patient with CCD. An analysis of their RUNX Family Transcription Factor 2 (RUNX2) gene sequences was performed by PCR amplification and Sanger sequencing. The function of the mutant RUNX2 was studied by bioinformatics, real‐time PCR, western blotting, and subcellular localization analysis. Sanger sequencing identified a novel single‐base deletion (NM_001024630.4:c.132delG;NP_001019801.3: Val45Trpfs*99) in the RUNX2 gene present in the Chinese patient with CCD. In vitro, functional studies showed altered protein localization and increased expression of mutant RUNX2 mRNA and mutant Runt‐related transcription factor 2 (RUNX2). Luciferase reporter assay demonstrated that the novel RUNX2 mutations significantly increased the transactivation activity of RUNX2 on the osteocalcin gene promoter. In conclusion, we identified a patient with sporadic CCD carrying a novel deletion/frameshift mutation of the RUNX2 gene and performed screening and functional analyses to determine the cause of the CCD phenotype. This study provides new insights into the pathogenesis of CCD.3

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Section: Discussionmentioning

confidence: 99%

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Pan

Meng

et al. 2023

European J Oral Sciences

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“…In addition to the exposure and extraction of supernumerary teeth in the orthodontic phase, CCD surgical treatment may also include restoration of the masticatory apparatus with dental implants (18,19). Genetically, it affects not only the dentition but also the jaw bones.…”

Section: Discussionmentioning

confidence: 99%

“…Genetically, it affects not only the dentition but also the jaw bones. The biological properties of bone tissue and particularly its ability for osseointegration in CCD cases are still being investigated (20).…”

Section: Discussionmentioning

confidence: 99%

Dental treatment of patients with cleidocranial dysplasia: two case reports

Dzhongova,

Gonkov

2023

Scripta Scientifica Medicinae Dentalis

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INTRODUCTION: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder, also referred to ascleidocranial dysostosis. The diagnosis is made on the basis of clinical and radiological findings and is confirmed through a genetic analysis. Cleidocranial dysplasia manifestations in the skeletal system include aplasia or hypoplasia of the clavicles, leading to shoulder joint hypermobility, a cone-shaped chest with short ribs, a wide skull with prominent frontal bone, etc. The dental status of CCD patients is commonly marked by a persistent primary dentition, delayed eruption of permanent teeth, supernumerary teeth, an incorrect proportion between the two jaws, impaired masticatory function and aesthetics. AIM:The aim of the present study is to show the clinical and radiologic findings of two CCD patients and describe the multidisciplinary approach necessary for their treatment. Early diagnosis and awareness of the condition help to determine the optimal treatment and duration as well as to improve patients' quality of life. CASE REPORT:The subject of this clinical study are two closely related patients who sought professional dental help due to persistent primary teeth, delayed eruption of permanent dentition beyond the mean eruption age and resultant occlusal and aesthetics problems. RESULTS: Correction of the dental status in CCD patients is a long process. Timely combination of orthodontic and surgical treatments is crucial for optimal and long-lasting results.CONCLUSION: Dental treatment of CCD patients is a complex endeavor. The type of approach in the orthodontic, surgical and prosthetic treatment is largely determined by the patients' age, their general health as well as their intraoral status (present deciduous teeth, existing permanent teeth and occlusal contacts).

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“…underdevelopment of the maxilla 45,[47][48][49] . Panoramic X-rays and tomography show multiple impacted permanent teeth 47,49 .…”

Section: Crouzon Syndromementioning

confidence: 99%

“…A tailored combination of surgical and clinical treatments is helpful, to avoid complications 47 . Orthodontic therapy at an early age is very useful for these patients 45 , to avoid speech and language problems 46 . Early extraction of deciduous teeth and osteotomy to enable permanent tooth eruption is a viable alternative [48][49][50] .…”

Section: Crouzon Syndromementioning

confidence: 99%

Peculiar Features and Surgical Approach in Syndromes With Maxillofacial Implications: A Case Series and Updated Review

Grillo¹,

Madruga²,

Júnior³

et al. 2023

JBSMFS

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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 incidence of the reported syndromes. Surgical planning and treatment have been discussed in cases of Eagle´s syndrome, Jacob´s disease, Crouzon syndrome, Cleidocranial dysplasia, and Goldenhar syndrome. A brief report of the features of the syndrome and surgical procedures involved were evaluated. Conclusions: Styloidectomy and coronoidectomy are considered the best treatments for Eagle´s syndrome and Jacob´s disease, respectively. For some syndromes, tailored surgical treatment is essential. Some data must be considered in surgical planning and treatment. Depending on one characteristic or another, the surgical procedure can be chosen.

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Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants—a clinical report

Cited by 8 publications

References 29 publications

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Dental treatment of patients with cleidocranial dysplasia: two case reports

Peculiar Features and Surgical Approach in Syndromes With Maxillofacial Implications: A Case Series and Updated Review

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