1/4. The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis.This study had the goal to perform an electromyography evaluation of the orbicularis oris, orbicularis oculi, masseter, and temporal muscles of two siblings with Schwartz-Jampel syndrome (SJS), in different clinical activities, comparing them to healthy controls (C). The Schwartz-Jampel syndrome is a rare genetic disorder (71 cases reported in worldwide literature), in which myotonia may be observed in the facial muscles, determining a standard facie that shows an appearance of someone who is sad and weeping For the electromyography (EMG), a Myotronics--K61 electromyographer, was used, with superficial and disposable silver chloride electrodes. By means of the analysis of the obtained results, we observed significant statistical differences for the masseter muscle and for orbicularis oculi muscles (p < 0.01) among the studied groups, in which the individuals with SJS presented greater muscular activity than the normal ones, used as healthy controls. The statistical difference between the two groups was not significant for the temporal muscle, as well as for the orbicularis oris muscle, although the EMG averages were much greater in patients who were bringers of the syndrome. This high muscular activity may be related to the facial osseous alterations, evidenced in both patients with SJS, such as the mandibular migrognathia, with an atrophy of the mandibular cortex and a consequent approximation between the inferior dental root apices and the mandible base, as well as the presence of hypoplastic condyles in terms of size and height.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |
2/4. Van Buchem disease: surgical treatment of the mandible.First described in 1955, Van Buchem disease is an infrequently occurring hereditary sclerosing bone dysplasia. It is more properly called hyperostosis corticalis generalisata. The most striking feature is an unusual enlargement of the mandible with a normal dental occlusion. skull base, spine, and pelvic bone involvement is also seen. The defect appears to be an increase in cortical bone thickness or sclerosis. The condition first appears around puberty in the autosomal recessive type and in early childhood with the autosomal dominant type. Reported here is a family with Van Buchem disease, in which surgical recontouring of the mandible was performed for one of the members. The surgery was performed by a combined intraoral/extraoral technique with good aesthetic results and minimal morbidity. A differential diagnosis and workup is also presented.- - - - - - - - - - ranking = 6keywords = mandible (Clic here for more details about this article) |
3/4. Autosomal dominant type of endosteal hyperostosis with unusual manifestations of sclerosis of the jaw bones.We report three cases of autosomal dominant type endosteal hyperostosis which occurred in one Japanese family. A new pattern of sclerotic changes in the jaw bones is evident. In all members of the family there was a symmetrical thickening of the diaphyseal cortices of the long bones. The affected bones were only minimally widened and the epiphyses and metaphyses were spared. Endosteal sclerosis of the neurocranium was present with loss of the diploe. The sclerotic changes included enlargement and mottled sclerosis of both the maxilla and mandible, with multiple embedded teeth and odontomas. The ramus of the mandible was spared. Severe sclerosis of the jaw bones was present only in a 28-year-old woman. The 2-year-son showed only focal sclerosis in the mandible, and his grandmother had minimal changes in the skeleton.- - - - - - - - - - ranking = 3keywords = mandible (Clic here for more details about this article) |
4/4. Melnick-needles syndrome in a mother and her son.The Melnick-needles syndrome is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and short stature. The syndrome is considered to be lethal in males. Nevertheless, five surviving males are considered to represent new mutations. We are presenting an affected surviving male with the Melnick-needles syndrome born to an affected mother.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |