[Osteogenesis imperfecta associated with dentinogenesis imperfecta and partial anodontia].
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Adolescent↗
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Results for “Dentinogenesis Imperfecta”
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Dentinogenesis imperfecta: endodontic implications. Case report.
Dentinogenesis imperfecta is a hereditary disorder resulting in defective dentin in both the primary and secondary dentitions. The complications of dentinogenesis imperfecta are difficult to manage and provide a challenge to the dentist. This case report concerns treating an African American patient with dentinogenesis imperfecta who appeared for treatment with endodontic pathosis. It illustrates the need for appropriate and timely restorative treatment to prevent pulpal pathosis. Also demonstrated is the difficulty of endodontically treating dentinogenesis imperfecta teeth because of pulpal obliteration and abnormal dentin mineralization. Early and correct diagnosis of dentinogenesis imperfecta is imperative to enable appropriate preventive interventions and optimal dental treatment. Although pulpal pathosis is rarely reported with dentinogenesis imperfecta, endodontic treatment is occasionally necessary and has a guarded prognosis if initiated after pulp canal obliteration has occurred.
Adult↗
Dentinogenesis imperfecta: a case report.
Dentinogenesis imperfecta is a localized form of mesodermal dysplasia of the dentin affecting both the primary and permanent dentitions. Most previous reports on dentinogenesis imperfecta describe treatment with overdentures, which have several disadvantages. The present report describes a case of dentinogenesis imperfecta in an 11-year-old girl. A combination of restorative, prosthetic, and surgical treatment was used to resolve the condition.
Cephalometry↗
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.
Dentinogenesis imperfecta (DGI) type II (OMIM # 125490) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II. DSPP encodes two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Here, we describe a mutational analysis of DSPP in seven Finnish families with DGI type II. We report two mutations and five single nucleotide polymorphisms. In one family we found a mutation that has been described earlier in families with different ethnicity, while in six families we found a novel g.1194C>A (IVS2-3) transversion. Bioinformatic analysis of known DSPP mutations suggests that DGI type II is usually caused by aberration of normal splicing.
Child↗
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.
Dentinogenesis imperfecta (DI) type II, an inherited disorder affecting dentin, has been linked to mutations in the dentin sialophosphoprotein ( DSPP) gene on chromosome 4q21. The gene product is cleaved into two dentin-specific matrix proteins, dentin sialoprotein (DSP) and dentin phosphoprotein. The aim of this investigation was to study genotypes and phenotypes in two affected families with special reference to clinical, radiographic, and histopathologic manifestations. Seven affected members of Family A and five of Family B were documented clinically and radiographically; 14 and 10 teeth, respectively, were available for histopathologic investigation and prepared for ground sections, which were assessed semiquantitatively for dysplastic manifestations in the dentin according to the scoring system, dysplastic dentin score (DDS). Venous blood samples were collected from six affected and ten unaffected members of Family A, and from eight affected and six unaffected members of Family B. Genomic DNA was extracted and used for sequence analyses. The two families presented with different missense mutations. An Arg68Trp missense mutation in the DSP part of the gene was revealed in all six analyzed affected individuals in Family A. This mutation was not present in any of the ten healthy members. In Family B, an Ala15Val missense mutation involving the last residue of the signal peptide was found in all eight affected but in none of the six healthy members. The clinical and radiographic disturbances and DDS were more severe in Family B. The data indicate the presence of a genotype-phenotype correlation in DI type II.
Base Sequence↗
[A case of disorder of the osseous system in a child 5 years and 8 months of age with symptoms of 3 diseases; osteogenesis imperfecta, osteopsathyrosis idiopathica and dentinogenesis imperfecta].
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Bone and Bones↗
Uninherited dentinogenesis imperfecta.
The rare hereditary disease, dentinogenesis imperfecta, is a disturbance of dentin formation in both the deciduous and permanent dentitions. It may be associated with osteogenesis imperfecta, though it is probably that the two diseases are carried by different genes. This association was recognized in a 19-year-old man. Dentinogenesis imperfecta had been diagnosed at the age of 6 and had been regarded as a mutation; 11 years later, an atypical form of osteogenesis imperfecta developed. The case is atypical because of the apparent absence of dentinogenesis imperfecta in the patient's family. The dental manifestations may have heralded the bone disease.
Adult↗
[Oral rehabilitation in dentinogenesis imperfecta. Report of a case].
We present a case of Amelogenesis imperfecta associated with Dentinogenesis imperfecta, affecting the primary dentition which is rehabilitated under general anesthesia. Dentinogenesis imperfecta is a tooth abnormality which presents clinical, radiological and histological characteristics, they should be recognized by the dentist who will determine the treatment depending on age and grade of affection. In the primary dentition we recommend the use of stainless steel crowns do to it's resistance and easy adaptation which will remain in the mouth until it's normal exfoliation.
Child, Preschool↗
The inorganic phase in dentinogenesis imperfecta.
The inorganic phase in dentin with dentinogenesis imperfecta was investigated, using the correlated techniques of high resolution TEM, X-ray diffraction analyses, infrared absorption spectroscopy, thermogravimetry, and chemical and electron microprobe analyses. It was shown that crystallites in dentin with dentinogenesis imperfecta are of normal size (from 3 to 6 lattice planes thick), but less numerous than in normal dentin. Electron microprobe analyses indicated significant differences in the mineral content of dentin with dentinogenesis imperfecta compared to normal dentin. A higher Ca/P ratio, a loss in Ca and P, and a severe significant loss in Mg, corroborated by chemical analyses, were recorded. The main component of the inorganic phase in dentin with dentinogenesis imperfecta was found to be poorly crystallized carbonated apatite. It is suggested that the water content, greatly increased in dentin with dentinogenesis imperfecta, is at least partly related to lattice water tightly bound to the inorganic phase.
Adolescent↗
Thirteen-year-old boy with dentinogenesis imperfecta - pedodontic and orthodontic treatment.
Dentinogenesis imperfecta is a hereditary condition characterized by disturbance in tooth formation. The colour of the teeth vary from opalescent greyish-blue to an amber-like colour on the teeth with splitting of the enamel. On the roentgenogram the marked obliteration of the pulp chambers is a characteristic feature. This case report describe a 13-year-old boy with dentinogenesis imperfecta. High caries activity resulted in extensive caries on the first permanent molars. The boy had to be treated orthodontically to create acceptable occlusion. The treatment was carried out with fixed appliance and started after extraction of the four first permanent molars. No observable injury was recorded during the treatment.
Adolescent↗
Dentinogenesis imperfecta: a case report.
Dentinogenesis imperfecta is a rare structural anomaly that is not frequently encountered in an orthodontic office. This case report of the treatment of a patient with this condition is presented in the hope that it will add to the knowledge of this hereditary condition.
Child↗
Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report.
Dentinogenesis imperfecta (DI) is the result of a dominant genetic defect and affects both the deciduous and permanent dentitions. It is characterized by opalescent teeth composed of irregularly formed and undemineralized dentin which obliterates pulp chamber and root canal. DI can appear as a separate disorder or with osteogenesis imperfecta (OI). The teeth with DI show a grayish-blue to brown hue with dislodged enamel, dysplastic dentine with irregular dentinal tubules and interglobular dentine, short roots and pulpal obliteration, which all may lead to rapid and extensive attrition which require adequate crown reconstruction. The aim of this study was to show a reconstruction of frontal teeth in upper jaw with direct composite veneers in young adult patient with DI.
Adult↗
Genetic mapping of the dentinogenesis imperfecta type II locus.
Dentinogenesis imperfecta type II (DGI-II) is an autosomal dominant disorder of dentin formation, which has previously been mapped to chromosome 4q12-21. In the current study, six novel short tandem-repeat polymorphisms (STRPs) have been isolated, five of which show significant evidence of linkage to DGI-II. To determine the order of the STRPs and define the genetic distance between them, nine loci (including polymorphisms for two known genes) were mapped through the CEPH reference pedigrees. The resulting genetic map encompasses 16.3 cM on the sex-averaged map. To combine this map with a physical map of the region, all of the STRPs were mapped through a somatic cell hybrid panel. The most likely location for the DGI-II locus within the fixed marker map is in the D4S2691-D4S2692 interval of 6.6 cM. The presence of a marker that shows no recombination with the DGI-II phenotype between the flanking markers provides an important anchor point for the creation of physical continuity across the DGI-II candidate region.
Base Sequence↗
Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta.
Sixty-eight patients with osteogenesis imperfecta (OI) classified according to Sillence were evaluated for dentinogenesis imperfecta (DI). Orthopantomograms of 51 of the 68 were examined. Type I DI was recognized in 22 patients from 16 families. DI was observed in 4/45 patients with type I OI, in one of two patients with type III, and in 13/16 patients with type IV OI. Four of the five patients with an unidentified type of OI had DI. The expression of type I DI was variable. Discoloration and pulpal obliteration were the major manifestations. Teeth from 14 patients from 12 families were studied histologically. Eight of the 14 patients were from six families who had clinical and/or radiographic evidence of DI. Irregularity of the dentin matrix and tubular pattern in the circumpulpal dentin and normal mantle dentin were observed. Interfamilial variability was greater than intrafamilial variability. The expression of DI was mild in one family with type I OI. There was no further relation between the type of OI and the severity of DI.
Dentin↗
[Chromosome localization of the dentinogenesis imperfecta type II locus].
OBJECTIVE: To scrutinize the linkage between dentinogenesis imperfecta type II and chromosome 4q21 in a Tianjin-Tanggu family. METHODS: Blood samples were collected from 13 members of the family. DNA was analyzed with 4 short tandem repeat polymorphisms markers UGATA62A11, DSP(P), SPP1 and D4S1563 Y using fluorescence-based PCR. The linkage between four markers on chromosome 4q21 and dentinogenesis imperfecta type II was tested by Lod score analysis. RESULTS: GATA62A11 and DSP(P) suggested linkage and yielded a Lod score of 1.63 at theta =0, and 1.68 at theta =0 by means of the MLINK software, respectively. Genotype and haplotype were acquired. CONCLUSION: The disease gene of the dentinogenesis imperfecta type II family is located on chromosome 4q. The result will be helpful for the further identification of the dentinogenesis imperfecta type II gene.
Chromosome Mapping↗
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q.
Dentinogenesis imperfecta type III (DGI-III) is an autosomal-dominant disorder of dentin formation which appears in a tri-racial southern Maryland population known as the "Brandywine isolate". This disease has suggestive evidence of linkage to the long arm of human chromosome 4 (LOD score of 2.0) in a family presenting with both juvenile periodontitis and DGI-III. The purpose of this study was to screen a family presenting with only DGI-III to determine if this locus was indeed on chromosome 4q. Furthermore, we wanted to determine if DGI-III co-localized with dentinogenesis imperfecta type II (DGI-II), which has been localized to 4q21-q23. Therefore, a large kindred from the Brandywine isolate was identified, oral examination performed, and blood samples collected from 21 family members. DNA from this family was genotyped with 6 highly polymorphic markers that span the DGI-II critical region of chromosome 4q. Analysis of the data yielded a maximum two-point LOD score of 4.87 with a marker for the dentin matrix protein 1 (DMP1) locus, a gene contained in the critical region for DGI-II. Our results demonstrated that the DGI-III locus is on human chromosome 4q21 within a 6.6 cM region that overlaps the DGI-II critical region. These results are consistent with the hypothesis that DGI-II is either an allelic variant of DGI-III or the result of mutations in two tightly linked genes.
Aggressive Periodontitis↗
[Chromosome localization of the dentinogenesis imperfecta type II locus].
OBJECTIVE: To investigate the linkage between dentinogenesis imperfecta type II and chromosome 4q21 in a Tianjin-Tanggu family of the Hui nationality. METHODS: Blood samples were collected from 13 family members. DNAs were analyzed with 8 STRP markers (D4S2915, D4S2932, GATA62A11, D4S2409, DSP STRP, SPP1 STRP, D4S1563, D4S1544) using fluorescence-based PCR. The linkage between eight markers on chromosome 4q21 and dentinogenesis imperfecta type II locus was tested respectively by lod score analysis. RESULTS: Genotype and haplotype were acquired. Genetic linkage analysis demonstrated the maximum lod score of eight STRPs were all larger than zero, in which five of them were larger than 1. CONCLUSION: The locus of dentinogenesis imperfecta type II in Chinese family is located on human chromosome 4q21, which indicated that the locus of Chinese Hui nationality should be the same as that of other reported European or American family.
Chromosome Mapping↗
Dentinogenesis imperfecta: an early treatment strategy.
Dentinogenesis imperfecta (DI) type 2 is a disease inherited in a simple autosomal dominant mode. As soon as the teeth erupt the parents may notice the problem and look for a pediatric dentist's advice and treatment. Early diagnosis and treatment of DI is recommended, as it may prevent or intercept deterioration of the teeth and occlusion and improve esthetics. The purpose of this article is to present the objectives, treatment options, and problems encountered in the treatment of DI in the early primary dentition. A two-stage treatment of a toddler under general anesthesia is described and discussed. This paper recommends for severe cases of DI two treatment stages performed under general anesthesia. Stage 1 is early (around age 18-20 months) and is directed to covering the incisors with composite restorations and the first primary molars with preformed crowns. Stage 2 (around age 28-30 months) seeks to protect the second primary molars with preformed crowns and cover the canines with composite restorations.
Child, Preschool↗