Genetic Syndromes Associated with Cleft Lip and Palate – A Review

Several syndromes are associated with cleft lip and cleft palate. Apart from the several syndromes reported in cleft lip and palate, syndromes require special attention, which are certain Velocardiofacial syndrome, Van der Woude syndrome (VWS), Stickler syndrome. Van der Woude, Foetal alcohol syndrome, Holzgreve syndrome, Marfan syndrome, Myotonic dystrophy, Klippel–Feil syndrome, Patau syndrome, Potter sequence and Pierre Robin sequence are also some of the syndromes which have been associated with cleft lip and palate. Certain measures such as multidisciplinary approach and family counselling may prove to be beneficial to treat cleft lip and palate.

Comparative study of clinicofunctional staging of oral submucous fibrosis with qualitative analysis of collagen fibers under polarizing microscopy.

Objective : The aim of the study was to assess the severity of the disease in oral submucous fibrosis (OSF), correlate the clinical, functional staging with histopathological staging, and analyze collagen distribution in different stages of OSF using the picrosirius red stain under polarizing microscopy. Materials and Methods : The study included randomly incorporated 50 subjects, of whom 40 were patients with OSF, and 10 were in the control group. Clinical, functional staging in OSF cases was done depending upon definite criteria. A histopathological study was conducted using the hematoxylin and eosin stain and picrosirius red stain. Collagen fibers were analyzed for thickness and polarizing colors. Furthermore, clinical, functional, and histopathological stages were compared. Statistical Analysis : Descriptive data which included mean, SD, and percentages were calculated for each group. Categorical data were analyzed by the chi-square test. Multiple group comparisons were made by one-way ANOVA followed by Student's t-test for pairwise comparisons. For all tests, a P-value of 0.05 or less was considered for statistical significance. Results : As the severity of the disease increased, clinically, there was definite progression in subjective and objective symptoms. Polarized microscopic, examination revealed, there was a gradual decrease in the green-greenish yellow color of the fibers and a shift to orange red-red color with increase in severity of the disease. Thereby, it appeared that the tight packing of collagen fibers in OSF progressively increased as the disease progressed from early to advanced stages. We observed that the comparison of functional staging with histopathological staging was a more reliable indicator of the severity of the disease. Conclusion : In the present study, we observed that mouth opening was restricted with advancing stages of OSF. The investigation also points to the importance of assessing the cases of OSF, especially with regard to functional and histological staging in planning the treatment.

Ewing's sarcoma of the maxilla.

Ewing's sarcoma is an uncommon malignancy that occurs usually in childhood. In most reported cases, the occurrence of this tumor is more in the mandible than the maxilla. A case of Ewing's sarcoma of the maxilla together with its associated structures is presented and discussed with complete clinical, radiographic, and histological evaluation. Although the prognosis remains poor, an increased rate of survival is now associated with early diagnosis and combined therapy.

Metastatic malignant melanoma of maxillary gingiva. A case report.

Malignant melanoma of the oral cavity can be primary or secondary due to metastasis from distant site. Incidence of oral cavity by metastasis of melanoma is 1.85%. Most common oral sites involved are tongue, buccal mucosa and parotid gland. Oral lesions occur as a part of disseminated disease during the advanced stages and has poor prognosis. An unusual case of metastatic malignant melanoma of the maxillary gingiva is reported.