Heterozygous mutations in RUNX2 gene, which encodes a transcription factor essential for osteoblast differentiation, were identified as the etiological cause of CCD.

OBJECTIVE AND METHODS: Herein, we performed physical and radiographic examination and screening for RUNX2 mutations in 11 patients from five families with CCD.

RESULTS: All patients demonstrated the classical phenotypes related to CCD. Families whose affected members MEK inhibitor drugs had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2. On the other hand, CCD patients from families with

low frequency of dental abnormalities showed no mutation in RUNX2 or mutation outside of the runt domain (Q292fs –> X299).

CONCLUSION: The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and

genetic studies are needed to clarify the relationship between phenotypes and genotypes in CCD and to identify other factors that might influence the clinical features of this uncommon disease. Oral Diseases (2012) 18, 184-190″
“Oncocytic neoplasms are tumors composed of oncocytes (ie, epithelial cells with a large cytoplasm that is rich in mitochondria). Most cases are benign and originate from the salivary glands. Although there have been a few Autophagy phosphorylation reported cases of oncocytomas being found in the sinonasal tract, most if not all cases seem not to involve SBI-0206965 chemical structure the anterior skull base. We report a rare case

of oncocytoma involving the anterior skull base occurring in a 44-year-old male patient. Preoperative carotid angiography and selective embolization was performed. The patient underwent an expanded endoscopic endonasal anterior craniofacial resection, which allowed complete resection of the tumor, with a low morbidity. The pathological diagnosis was oncocytoma. At 36 months after the initial treatment, the patient is free of disease. Based on our literature search, this may be the first such reported case. A brief review of the available literature examining the known body of knowledge regarding these neoplasms is presented.”
“OBJECTIVE: To obtain a deeper insight into the difficulties individuals with cri-du-chat syndrome experience by means of the analysis of the most common features and oral pathology observed in the subjects enrolled in the study.

SUBJECTS AND METHODS: Intra-oral and extra-oral features of a total of 33 patients with cri-du-chat syndrome (the larger sample so far analyzed) through their clinical and photographic examination. Models, orthopantomographies, and teleradiographies have been collected to establish a pattern as accurate as possible of the oral pathology associated with these patients.