Cases reported "Jaw Abnormalities"

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1/37. Congenital unilateral fusion of the maxilla and mandible.

    We present an uncommon severe first branchial arch congenital malformation, in which complete unilateral bony fusion between the maxillary and mandibular processes was found in a newborn exposed to carbamazepine medication all through pregnancy. This condition interferes with oral feeding, intubation, growth and development. In a review of previously reported cases it was found that this anomaly was commonly associated with other abnormalities. The etiology of this malformation was uncertain in our case, as carbamazepine was not proven to be the definite cause.
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2/37. Autosomal dominant osteosclerosis: report of a kindred.

    Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bone disorder, is a generalized hyperostosis that manifests itself as increased cortical thickening of the skull, mandible, metacarpals, metatarsals, long bones, vertebral bodies, ribs, and clavicles. jaw abnormalities, which clinically resemble the widening and deepening of the mandible seen in cherubism, begin in childhood and have been reported to stabilize after puberty. Teeth and alveolar bone are normal. ADO must be distinguished from Van Buchem's disease, which is characterized by elevated serum alkaline phosphatase, neurologic complications, exopthalmos, periosteal excrescences, and an autosomal recessive pattern of inheritance, as well as from other craniotubular bone disorders such as osteopetrosis. We present clinical and radiographic documentation of members of a kindred representing 4 generations affected with ADO. At initial examination of the proband, a differential diagnosis included cherubism, fibrous dysplasia, osteopetrosis, and Paget's disease. Radiographic examination revealed extensive radiopacity of the inferior border and basal bone of the mandible. The proband's clavicles and humerus were also affected. All family members examined were similarly affected and had mandibular and palatal tori. Authors of a previously published report on the dental and dentoalveolar management of patients with craniotubular bone disorders have recommended prophylactic antibiotics to minimize risk of osteomyelitis in all such cases. The members of our kindred received extensive dental treatment before diagnosis, including extractions of severely carious teeth, preprosthetic dentoalveolar surgery, and endodontic therapy; there was no incidence of osteomyelitis or postsurgical complications. Therefore, the use of prophylactic antibiotics may not be warranted in patients with ADO who have otherwise normal medical histories.
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keywords = mandible
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3/37. Accuracy of integration of dental casts in three-dimensional models.

    PURPOSE: This study investigated errors occurring in three-dimensional (3D) models when plaster dental casts are integrated into them. MATERIALS AND methods: Three-dimensional milling models of three patients with a jaw deformity were fabricated using the Endoplan system (SPARC International Inc, Santa Clara, CA). After this, plaster dental casts were integrated into the 3D models using a face-bow transfer system. Two cephalograms were then compared, one obtained from the patient and the other obtained from the 3D model painted with contrast medium. RESULTS: In two cases, the reproducibility of the dental position as determined by angle analysis was within 2 degrees, and that determined by distance analysis was within 2 mm. However, errors over 4 degrees and 4.2 mm, respectively, were observed in one case. CONCLUSION: It is clinically important to confirm the accuracy of the 3D model by cephalometric analysis, and it may be necessary to reposition the dental model based on the results.
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4/37. The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

    We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.
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5/37. Cystic lymphangioma: its orofacial manifestations.

    A patient age five years, nine months with cystic lymphangioma was studied to determine the causes of malocclusion and the optimum time for its treatment. The main findings were unilateral anterior and posterior crossbite and displacement of the mandibular midline due to maxillary deformity and mandibular rotation. The force of the cystic lymphangioma mass caused deformity of the maxilla and rotation of the mandible. The patient had no functional impairment of speech or mastication. A decision was made to defer treatment of malocclusion until complete surgical excision of the cystic lymphangioma can be undertaken, thereby minimizing the chance of malocclusion re-occurrence.
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ranking = 0.25
keywords = mandible
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6/37. Treatment of an open-bite malocclusion complicated by clefts of the maxilla and mandible.

    This is a case presentation of a young girl with a severe Class II, Division I open-bite malocclusion. Her orthodontic problems were further complicated by clefts in both her maxilla and mandible. A cleft palate team evaluation brought several systemic and local problems to light which necessitated their correction prior to the commencement of any orthodontic therapy. Her diagnosis and treatment have been discussed here with special emphasis on the problems peculiar to children with oral clefts.
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keywords = mandible
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7/37. Severe acro-renal-uterine-mandibular syndrome.

    Although limb and renal defects occur together in a variety of patterns of multiple malformations, familial cases of acro-renal disorders are rare. In 1980, Halal et al. inverted question markAm J Med Genet 5:277-284 described two sisters with unusual limb deficiencies, renal anomalies, and mandibular hypoplasia and termed this condition acro-renal-mandibular syndrome. A girl reported earlier by Fitch and Lachance inverted question mark1972; Can Med Assoc J 107:653-656 had similarly limb and renal findings, but an apparently normal jaw. We document three sibs with unusual limb deficiencies, renal agenesis, uterine anomalies in the two females, and orofacial defects, who clearly have a similar but more severe type of acrorenal disorder, apparently inherited as an autosomal recessive condition. The sibs with limb deficiencies and renal agenesis reported by Hennekam et al. inverted question mark1994; Am J Med Genet 53:102-107 appear to be additional cases of this very rare disorder, the pathogenesis of which may be related to abnormal epithelial-mesenchymal interactions.
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keywords = jaw
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8/37. Transmission of the dysgnathia complex from mother to daughter.

    We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.
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keywords = jaw
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9/37. prenatal diagnosis of agnathia-holoprosencephaly: three-dimensional imaging by helical computed tomography.

    We report a case of agnathia-holoprosencephaly which was prenatally diagnosed based on helical computed tomography (CT) images obtained at 23 weeks of gestation. Ultrasound examination first showed the presence of alobar holoprosencephaly, but the facial structures were not clearly detailed. However, three-dimensional imaging by helical CT precisely demonstrated the most striking feature of agnathia: absence of the mandible. This technique provided us valuable information that contributed to the in utero diagnosis. In utero helical CT is a useful examination tool for the diagnosis of osteogenic abnormalities.
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ranking = 0.25
keywords = mandible
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10/37. A new arthrogryposis syndrome with facial and limb anomalies.

    A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.
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keywords = jaw
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