A computerized photographic assessment of the relationship between skeletal discrepancy and mandibular outline asymmetry.
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The aim of this study was to investigate the relationship between mandibular outline asymmetry and skeletal discrepancy in a sample of orthodontic patients (33 females, 33 males) aged from 8 to 19 years. Skeletal discrepancy was assessed in both the anteroposterior and vertical planes, using standard cephalometric analyses. All were photographed under standardized conditions and the photographs were then digitized for analysis using a computerized system to assess differences in four variables (area, perimeter, compactness and moment-ratio) between the right and left sides of the mandibular outline. The results showed good repeatability of the photographic, cephalometric and digitization methods. A statistically significant relationship was found between mandibular outline asymmetry and both anteroposterior and vertical skeletal discrepancy in this sample, when compared with patients with an average skeletal pattern. There appeared to be a statistically significant relationship between a reduced ANB angle (< 3 degrees) and mandibular outline asymmetry (P = 0.051), as well as between an increase in lower face height and mandibular asymmetry (P = 0.023). (+info)
Oromaxillofacial osseous abnormality in Sturge-Weber syndrome: case report and review of the literature.
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We report a case of a 17-month-old child affected by Sturge-Weber syndrome who had unusually rapid overgrowth of the left frontal, temporal, orbital, and maxillary regions. CT angiography illustrated osteohypertrophy with periostitis and associated soft tissue hypertrophy directly corresponding to the distribution of the cutaneous port-wine stain. Extended maxillectomy was performed because of rapid growth and clinical debilitation, with surgical pathology revealing juvenile ossifying fibroma. (+info)
Long term results of mandibular distraction.
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Mandibular distraction osteogenesis has become a popular surgical modality due to its many advantages over conventional orthognathic surgical procedures. However, in spite of the technique having been used for over 15 years, no concrete long term results are available regarding the stability of results. We discuss the various studies which have reported either in favour or against the stablility of results after distraction. We report a series of 6 cases (3 unilateral and 3 bilateral distraction) where distraction was carried out before puberty and followed them up to seven years after removal of distractors. This case series shows that results achieved by distraction osteogenesis are unstable or best unpredictable with respect to producing a permanent size increase in the mandible. The role of the distraction osteogenesis in overcoming the pterygomassetric sling is questionable. We suggest a multicenter study with adequate patient numbers treated with a similar protocol and documented after growth cessation to have meaningful conclusions on the debate of distraction osteogenesis versus orthognathic surgery. (+info)
The Gold Medal of the Conjoint M. Orth. Examination of the Royal College of Surgeons of Edinburgh and the College of Dental Surgeons of Hong Kong, surgical orthodontic cases.
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The Conjoint Gold Medal was awarded to the candidate who scored the highest overall mark in Part II of the Membership of Orthodontics examination held by the Royal college of Surgeons of Edinburgh and the College of Dental Surgeons of Hong Kong. It is the intermediate examination for the orthodontic specialty training pathway in Hong Kong. Part of this examination involved the presentation of a fully documented fixed appliance case and a multidisciplinary case, and three other cases with condensed case histories. This article described two surgical orthodontic cases presented during the 1999 and 2002 examinations by the award winners. (+info)
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
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Costello syndrome (CS; MIM 218040) is characterized by short stature, facial dysmorphism, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias. CS is caused by germline mutations in the HRAS gene on chromosome 11p15.5, a region showing allelic imbalances in sporadic ERMS and CS/ERMS. The critical gene for ERMS development in this region is unknown. The association of CS and ERMS as well as previous reports illustrating that somatic HRAS mutations are found in a proportion of these tumors prompted us to clarify the significance and a possible correlation of HRAS mutations and genomic rearrangements at 11p15.5 in sporadic ERMS. We screened for somatic HRAS mutations and 11p15.5 imbalances in six sporadic ERMS samples. This analysis uncovered five ERMS samples with uniparental disomy (UPD) at the HRAS locus, two of which harbored HRAS mutations. By analyzing informative genetic variations in or at the HRAS gene locus, we show that one HRAS allele is entirely lost in specimens with UPD at 11p15.5. Notably, in both cases with UPD and HRAS mutations these mutations were heterozygous. Therefore, they must have succeeded the emergence of UPD. In contrast, HRAS germline mutations are the first step in CS/ERMS. Subsequent development of UPD at 11p15.5 may explain previous observations that CS/ERMS express mutant HRAS only. These data implicate that in sporadic ERMS, UPD at 11p15.5 is not driven by HRAS mutations and that imbalances at 11p15.5 and HRAS mutations represent independent but cooperating events during ERMS development. (+info)
Distraction osteogenesis in a severe mandibular deficiency.
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OBJECTIVE: Distraction osteogenesis is an alternative treatment method for the correction of mandibular hypoplasia. In this case report, distraction with a multidirectional extraoral device was performed to gradually lengthen the corpus and ramus of a patient who had a severe hypoplastic mandible. MATERIALS AND METHODS: The patient underwent bilateral extraoral ramus and corpus distraction osteogenesis. After seven days of latency period, distraction was performed 0.5 mm twice a day. Subsequent consolidation period was 12 weeks. RESULTS: The patient's mandible was elongated successfully. Cephalometric analysis revealed that ANB angle decreased from 13 degrees to 6 degrees , overjet of 15 mm decreased to 4 mm, corpus length increased from 49 mm to 67 mm, and ramus length increased from 41 mm to 43 mm. Posterior airway space (PAS) also increased due to advancement of the mandible. In stereolithographic model evaluation it was determined that the distances from condylion to gonion and from gonion to pogonion increased. CONCLUSION: Satisfactory results from both aesthetic and functional standpoints were obtained by distraction osteogenesis of the ramus and corpus. (+info)
Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
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Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio's syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73-76, 2002]. We report two siblings and their mother, with congenital, persistent torticollis, plagiocephaly, facial asymmetry, grooved tongues, and asymptomatic "dolicho-odontoid process". All are of normal intelligence. No associated Neurological dysfunction, paresis, apnoea, or failures to thrive were encountered. Radiographs of the cervical spine were non-contributory, but 3D CT scanning of this area allowed further visualisation of the cervico-cranial malformation complex in this family and might possibly explain the sudden early juvenile mortality. Agenesis of the posterior arch of the atlas and bifidity/clefting of anterior arch of the atlas associated with asymptomatic "dolicho-odontoid process" were the hallmark in the proband and his female sibling. Some of the features were present in the mother. All the family subjects were investigated. To the best of our knowledge the constellation of malformation complex in this family has not been previously reported. (+info)
Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature.
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The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these structures result in variable maxillary, mandibular, and ear abnormalities. These anomalies can be isolated or part of some known and unknown conditions, among them, the oculoauriculovertebral spectrum (OAVS). Malformations of the external ear or microtia are mandatory features of the OAVS and occur as an isolated malformation (population frequency of 0.03%), or in association with other anomalies such as mandible hypoplasia, epibulbar dermoids, and spinal vertebral defects. Extreme variability of phenotypic manifestations is the main feature of the OAVS and, developmental anomalies are not restricted to facial structures. Cardiac, pulmonary, renal, skeletal, and central nervous system involvements have been observed in patients presented with this condition. Radial defects, although rare, have been reported. In this study, we report on the clinical aspects of 14 Brazilian patients with first and second branchial arches abnormalities associated with radial defects and we compared these data with those of 26 cases in the literature. We postulate that radial defects associated with OAVS might represent a subset within this spectrum. (+info)