1/147. family with low-grade neuroendocrine carcinoma of salivary glands, severe sensorineural hearing loss, and enamel hypoplasia. Four sibs in a family on the Isle of Man, two brothers and two sisters ranging in age from 33 to 45 years, presented with low-grade malignant tumors of the submandibular gland in three cases and of the nasal cavities and maxillary sinuses in one. The neoplasms were all of the same histological type, apparently hitherto undescribed, showing well-differentiated neoplastic ducts, surrounded by neoplastic myoepithelial cells, together with sheets of epithelial cells expressing neuroendocrine markers by immunohistochemistry. Cervical neck node metastases have developed in all four cases. In the sib with a primary sinonasal neoplasm, widespread bloodstream metastases also became manifest and a single such metastasis in his brother. All four sibs have severe enamel hypoplasia and the same lesion is present in 5 of their 11 children. In the two male patients, severe sensorineural hearing loss has developed in adult life, unilateral in the left ear in one brother, bilateral in the other. In the brother with bilateral sensorineural hearing loss, magnetic resonance imaging revealed a vestibular schwannoma on the left side, which is currently under treatment. The inherited hearing loss is thought to be unilateral in this case also. ( info) |
| Radiographic analysis of 24 cases of hypophosphatasia (H) from 9 Paediatric Centres was performed. 3 cases were of neonatal (lethal), 18 cases of infantile (severe) and 3 cases of late (benign) type. Some of the patients were in reality borderline cases between these groups. In the authors' material all the patients showed radiographic signs of the disease. These were divided into diagnostic, characteristic and suggestive features. All of the patients had in common generalised (usually irregular) osteoporosis, generalised (usually irregular) metaphyseal changes, craniostenosis (13 of 18 infantile cases) or widened cranial sutures and ofter bowing of the long bones. Besides the well know radiographic features of hypophosphatasia some less well known, rare or 'new' ones such as, 1. spurs of the long bones (Bowdler sign), 2. distal femoral central metaphyseal defects and epiphyseal defects, 3. S-like deformities of the tibiae, 4. abnormal shape of the distal phalanges of the fingers, 5. multiple rib fractures and slender bones, 6. wedging of the lower thoracic and upper lumbar vertebrae, 7. partial premature fusion of the epiphyses, 8. nephrocalcinosis, 9. loss of lamina dura around the teeth, 10. variation in radiographic appearances of a pair of siblings with lethal form, and, 11. rapid changes in roentgen appearances. are discussed. In two of our patients (siblings) phosphoethanolamine was undetectable in the urine. The authors doubt if a normal skeletal survey may be present at any stage in any of the three major types of hypophosphatasia. ( info) |
3/147. Enamel staining and hypoplasia due to multiple causes in a Nigerian adolescent: report of a case. The aim of this report is to discuss the effects of childhood drug ingestion and metabolic disturbances of ill health in childhood on the coloration, structure and therefore the aesthetics of permanent dentition. To illustrate this, the report presents a case of a 15 year old Nigerian girl with combined tetracycline staining and chronological enamel hypoplastic defects on her teeth. The relationship between the clinical appearance of her teeth and her childhood medical and drug history are analysed. The various treatment modalities available for the management of the dental anomalies are discussed along with the rationale for the treatment given. Strategies for the prevention of these conditions are emphasised. ( info) |
4/147. Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth. A ten-year-old boy, who had the typical dental findings of dysosteosclerosis such as yellowish, hypoplastic teeth, retarded eruption, which upon eruption, decayed rapidly, is presented. To date this is the first known case reported with a congenital absence of the first permanent molars. Furthermore, SEM evaluation of the enamel and dentin was performed on a tooth from a patient with dysosteosclerosis for the first time. These studies showed weak ultrastructural compositions due to irregular calcification. ( info) |
5/147. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases. The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS. ( info) |
6/147. Oral findings in digeorge syndrome: clinical features and histologic study of primary teeth. OBJECTIVE: For the purpose of supplementing the shortage of dental information about digeorge syndrome, we report two cases of the syndrome seen in Japanese boys. STUDY DESIGN: Two cases were compared with respect to orofacial and dental findings; one was a case of complete digeorge syndrome and the other a case of partial digeorge syndrome. Extracted deciduous teeth from the two boys underwent histologic study. RESULTS: Each patient showed systemic developmental delay, hypocalcemia, and slight mental retardation. In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed. A dental examination showed delayed formation and eruption of permanent teeth, aplasia of the nasopharynx, and enamel hypoplasia along with enamel hypocalcification. Structural streaks with increased calcification were histologically detected in the deciduous tooth from the patient with complete digeorge syndrome. CONCLUSIONS: Common characteristic orofacial and dental findings were noted in the two digeorge syndrome cases. Furthermore, histologic study of the deciduous tooth from the boy with complete digeorge syndrome suggests that there was some relationship between transient relative hypercalcemia and dentinal hypermineralized streaking of the tooth. ( info) |
7/147. Adhesive solutions: report of a case using multiple adhesive techniques in the management of enamel hypoplasia. Enamel hypoplasia is a common condition that may present a severe aesthetic problem. Although the teeth affected may not be particularly susceptible to caries, patients may request cosmetic improvement. Adhesive techniques may be useful in such situations. This paper discusses the management of a patient with enamel hypoplasia using a combination of adhesive systems including enamel- and dentine-bonded veneers, dentine-bonded crowns, a cantilever resin-retained bridge, bonded amalgam restorations and chairside tin plating. Where adhesion was contraindicated, conventionally retained crowns were used. ( info) |
8/147. Abrasion, erosion, and abfraction combined with linear enamel hypoplasia: a case report. Linear enamel hypoplasia is a developmental disturbance of enamel resulting in clinically visible horizontal defects in enamel that are present on eruption of the tooth. Nondevelopmental lesions of the hard tissues of the tooth, including carious, abrasion, erosion, attrition, and abfraction lesions, require varying amounts of time after tooth eruption to develop. Because linear enamel hypoplasia lesions are present on eruption and are exposed to the factors responsible for abrasion, erosion, and abfraction, nondevelopmental lesions could occur within them in any combination. This report describes a patient with multiple teeth with linear enamel hypoplasia lesions containing nondevelopmental defects as well as nondevelopmental defects that occurred separately. Severe pain and a unique lesion morphology were associated with the linear enamel hypoplasia defects. Affected teeth were extracted because of advanced periodontitis and were sectioned to determine the nature of the enamel and dentin lesions. ( info) |
9/147. Malformation in the primary and permanent dentitions following trauma prior to tooth eruption: a case report. Dento-facial injuries that occur prior to the eruption of teeth in the primary dentition are rare, but can result in damage to the primary dentition. We report a rare case where an injury to the anterior maxilla and mandible of an infant prior to primary tooth eruption resulted in hypoplasia, displacement and impaction of the primary dentition and damage to a developing permanent tooth. ( info) |
10/147. Unusual indelible enamel staining following fixed appliance treatment. Two cases are described of indelible enamel staining following fixed appliance therapy. The acquired pigmentation occurred in patients with an identifiable enamel defect prior to treatment. The interaction of factors to cause the staining is discussed and it's prevention in future cases highlighted. Subsequent restoration of the affected teeth is shown. ( info) |