Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal.

In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a short stature, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular. RUNX2 is the only gene in which mutation is known to cause CCD, but mutations are detected in only 65% of all patients with a clinical diagnosis of CCD. Panoramic radiography is a valuable adjunct in confirming the diagnosis of CCD.Our experience allowed us to conclude that orthodontically aided eruption should always be attempted. However, to stabilize the occlusion and to improve facial esthetics, we recommend associated orthognathic surgery. When orthodontic treatment is partially efficient, prosthetic treatment options bring satisfactory results, in terms of occlusion. Nevertheless, when orthodontic treatment fails, we recommend to preserve as many native teeth as possible, and to combine orthognathic preprosthetic surgery and implant-supported prosthesis.In any case, an individualized treatment protocol, depending on the needs and demand of the patient, the age at diagnosis and social and economic circumstances, should be put forward.

Condylar hyperplasia: correlation between clinical, radiological, scintigraphic, and histologic features.

PURPOSE: The objectives of this study were to compare demographic, clinical, radiographic, scintigraphic, and histologic differences between the 2 main types of condylar hyperplasia (CH) and to suggest a new therapeutic management based on such findings. METHODS: This was a retrospective study based on 28 patients who presented either vertical (group 1) or horizontal (group 2) forms of CH and underwent surgical treatment. Every patient had a complete preoperative clinical and radiological examination as well as a single-photon emission computed tomography scan. A histologic analysis of each resected condyle was performed. These various parameters were then compared in the 2 patient groups. RESULTS: The mean age at time of the diagnosis was 25.8 years (range, 12-50 years), and there were 22 females and 6 males. Nineteen patients had the vertical form of CH, and 9 had the horizontal form. Scintigraphic analysis showed moderate to extensive radionucleotide uptake in cases with rapid growth. Four cases had negative single-photon emission computed tomography scan uptake, and all were vertical forms, but there was no statistically significant difference between the 2 groups. The histologic analysis showed both a global thickening of the cartilage cap and of the prechondroblastic cells layer with no statistically significant difference between the 2 groups. CONCLUSIONS: Condylar hyperplasia is a pathologic condition affecting mainly young females and whose origin remains unknown. Single-photon emission computed tomography scans as an indicator of the rapidity of the disease progress are essential in assessing the condylar hyperplasia and to guide the therapeutic approach.

[A classification of cranio-facial syndromes]. / Proposition de classification des syndromes malformatifs cranio-maxillo-faciaux.

How to manage craniofacial malformative cases? It seems to be very difficult, especially in orthodontics because of the lack of consensus. The authors' aim is to propose a physiopathologic classification of these craniofacial syndromes in order to simplify the medical practice when we meet these patients. More than fifty cases are actually treated and followed in our hospital; we have described all of these cases before to choose the most representative in each category. These syndromes are classified in four categories, organ abnormalities of one or many functional matrix, localized abnormalities of the anatomical structures, general abnormalities of the connective tissue, mixed syndromes.