Endodontic treatment of dental formation anomalies

PURPOSE: Dental fusion is defined as the union of two dental germs at some stage of their development. The aim of this article is to report the endodontic treatment of two clinical cases of dental fusion. CASE DESCRIPTION: In the first case, the patient was referred by an orthodontist for endodontic treatment of tooth 12, which was fused to 13. Surgical separation and later replacement of the involved elements in the dental arch was indicated. In the second case, the patient sought dental attendance due to spontaneous pain. In the radiographic exam, gemination in tooth 11 and fusion of 21 with a supernumerary tooth was observed. The fused teeth were endodontically treated, and patients were referred to other dental specialties to reestablish esthetics and function. CONCLUSION: The dentist must be able to diagnose, differentiate and treat these dental anomalies adequately, with the goal of maintaining patients' oral health.

Increased Occurrence of Dental Anomalies Associated with Second-Premolar Agenesis

Objective: To evaluate the prevalence of dental anomalies in patients with agenesis of second premolars and compare the findings with the prevalence of these anomalies in the general population. Materials and Methods: A Brazilian sample of 203 patients aged 8 to 22 years was selected. All patients presented agenesis of at least one second premolar. Panoramic and periapical radiographs and dental casts were used to analyze the presence of other associated dental anomalies, including agenesis of other permanent teeth, ectopia of unerupted permanent teeth, infraocclusion of deciduous molars, microdontia of maxillary lateral incisors, and supernumerary teeth. The occurrence of these anomalies was compared with occurrence data previously reported for the general population. Statistical testing was performed using the chi-square test (P < .05) and the odds ratio. Results: The sample with agenesis of at least one second premolar presented a significantly increased prevalence rate of permanent tooth agenesis (21%), excluding third molars. Among the sample segment aged 14 years or greater (N = 77), occurrence of third-molar agenesis (48%) exceeded twice its normal frequency. Significant increases in occurrence of microdontia of maxillary lateral incisors (20.6%), infraocclusion of deciduous molars (24.6%), and distoangulation of mandibular second premolars (7.8%) were observed. Palatally displaced canine anomaly was also significantly elevated (8.1%). Conclusion: The results provide evidence that agenesis of other permanent teeth, microdontia, deciduous molar infraocclusion, and certain dental ectopias are the products of the same genetic mechanisms that cause second-premolar agenesis. (Angle Orthod. 2009;79:436-441.)

A Statistical Study of the Association of Seven Dental Anomalies in the Brazilian Population

The objective of this study was to show the association patterns among seven types of dental anomalies (second pre-molar agenesis, upper side incisive reduced in size, lower first molar infra-ochlesis, enamel hypoplasia, first molar ectopic eruption, supra numerous teeth and upper canine ectopic eruption) in a population sample without dental treatment ranging in age from 7 to 14. A total of 172 patients were attended and underwent the clinical examination at the Clinica Infantil da Fundacao Educacional de Barretos. Eleven patients from this total were selected according to a first dental anomaly diagnosis and submitted to panoramic radiography. A significant association (p < 0.05) was detected among six pairs of anomalies (second pre-molar agenesis x first pre-molar ectopic eruption; second pre-molar agenesis x lower first molar infra-ochlesis; second pre-molar agenesis x upper side incisive reduced in size; supra numerous teeth x reduced size upper side incisive; first pre-molar ectopic eruption x enamel hypoplasia; lower first molar infra-ochlesis x upper side incisive reduced in size) suggesting a common genetic origin for these conditions. The association was not significant in only one case where there was anomaly sharing by the patients. The existence of an anomaly is clinically relevant for early diagnosis of a possible association and an anomaly can indicate an increased risk of other anomalies.

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group of patients, but it is very costly for large-scale use in developing countries. We evaluated the use of a combination of Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase the detection rate of chromosomal abnormalities in MCA/MR patients. We screened 261 MCA/MR patients with two subtelomeric and one microdeletion kits. This would theoretically detect up to 70% of all submicroscopic abnormalities. Additionally we scored the de Vries score for 209 patients in an effort to find a suitable cut-off for MLPA screening. Our results reveal that chromosomal abnormalities were present in 87 (33.3%) patients, but only 57 (21.8%) were considered causative. Karyotyping detected 15 abnormalities (6.9%), while MLPA identified 54 (20.7%). Our combined MLPA screening raised the total detection number of pathogenic imbalances more than three times when compared to conventional karyotyping. We also show that using the de Vries score as a cutoff for this screening would only be suitable under financial restrictions. A decision analytic model was constructed with three possible strategies: karyotype, karyotype + MLPA and karyotype + WGAS. Karyotype + MLPA strategy detected anomalies in 19.8% of cases which account for 76.45% of the expected yield for karyotype + WGAS. Incremental Cost Effectiveness Ratio (ICER) of MLPA is three times lower than that of WGAS, which means that, for the same costs, we have three additional diagnoses with MLPA but only one with WGAS. We list all causative alterations found, including rare findings, such as reciprocal duplications of regions deleted in Sotos and Williams-Beuren syndromes. We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP that confounded the analysis of the 22q13.3 deletion syndrome. (C) 2011 Elsevier Masson SAS. All rights reserved.

Prevalence of Upper Cervical Vertebrae Anomalies in Patients With Cleft Lip and/or Palate and Noncleft Patients

Objectives: To investigate the prevalence of upper cervical vertebrae anomalies in patients with isolated cleft lip, isolated cleft palate, and complete cleft lip and palate, as well as to compare the prevalence of these anomalies between groups, between genders, and with noncleft patients. Design: Retrospective cross-sectional study of randomly selected patients. Setting: Radiology Section, Hospital for Rehabilitation of Craniofacial Anomalies and Department of Orthodontics, Bauru School of Dentistry, University of Sao Paulo, Sao Paulo, Brazil. Participants: The sample comprised 300 lateral cephalograms of cleft patients, aged 12 to 13 years, of both genders, from the files of the Hospital for Rehabilitation of Craniofacial Anomalies-University of Sao Paulo and 300 lateral cephalograms from noncleft patients of the Department of Orthodontics, Bauru School of Dentistry. Cephalograms of patients with syndromes were not included. Method: Radiographs were interpreted on a film viewer by a single examiner; the profiles of vertebrae were traced on acetate paper, and cervical vertebrae anomalies were registered and categorized into posterior arch deficiencies, fusion, and association of both. Main Outcome Measures: Statistical comparison of groups using the chi-square test. Results: In the cleft group, 38.67% of the patients had cervical vertebrae anomalies. Of those in the noncleft sample, 31% showed anomalies of the cervical spine. This difference was statistically significant. There was no statistically significant difference when the types of clefts were compared with each other or when both genders were compared in both samples. Conclusions: This study confirms the association between clefts and cervical anomalies. Additional research on this topic is necessary.

Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. Results: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. Conclusions: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

Agenesis of maxillary lateral incisors and associated dental anomalies

Introduction: The objectives of this study were to evaluate the prevalence of dental anomalies in patients with agenesis of maxillary lateral incisors and to compare the findings with the prevalence of these anomalies in the general population. Methods: A sample of 126 patients, aged 7 to 35 years, with agenesis of at least 1 maxillary lateral incisor was selected. Panoramic and periapical radiographs and dental casts were used to analyze other associated dental anomalies, including agenesis of other permanent teeth, ectopia of unerupted permanent teeth, microdontia of maxillary lateral incisors, and supernumerary teeth. The occurrence of these anomalies was compared with prevalence data previously reported for the general population. Statistical testing was performed with the chi-square test (P<0.05) and the odds ratio. Results: Patients with maxillary lateral incisor agenesis had a significantly increased prevalence rate of permanent tooth agenesis (18.2%), excluding the third molars. The occurrence of third-molar agenesis in a subgroup aged 14 years or older (n = 76) was 35.5%. The frequencies of maxillary second premolar agenesis (10.3%), mandibular second premolar agenesis (7.9%), microdontia of maxillary lateral incisors (38.8%), and distoangulation of mandibular second premolars (3.9%) were significantly increased in our sample compared with the general population. In a subgroup of patients aged 10 years or older (n = 115), the prevalence of palatally displaced canines was elevated (5.2%). The prevalences of mesioangulation of mandibular second molars and supernumerary teeth were not higher in the sample. Conclusions: Permanent tooth agenesis, maxillary lateral incisor microdontia, palatally displaced canines, and distoangulation of mandibular second premolars are frequently associated with maxillary lateral incisor agenesis, providing additional evidence of a genetic interrelationship in the causes of these dental anomalies. (Am J Orthod Dentofacial Orthop 2010;137:732.e1-732.e6)

Frontonasal Dysgenesis, First Branchial Arch Anomalies, and Pericallosal Lipoma: A New Subtype of Frontonasal Dysgenesis

We report on two unrelated Brazilian boys with craniofacial anomalies that involve the frontonasal process and the first branchial arch associated with pericallosal lipoma. To our knowledge this condition seems to have been reported only once previously, but may represent a new condition within the group of the frontonasal dysgenesis. Clinical and imaging data, phenotypic evolution, and differential diagnosis are discussed. (C) 2010 Wiley-Liss, Inc.

Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. (C) 2009 Wiley-Liss, Inc.

22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

Dental anomalies of number in the permanent dentition of patients with bilateral cleft lip: Radiographic study

Objective: To radiographically evaluate the prevalence of dental anomalies in patients with complete and incomplete bilateral cleft lip, comparing the prevalence of anomalies between genders and cleft types. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo (HRAC/USP), Bauru, Sao Paulo, Brazil. Participants: 150 randomly selected panoramic radiographs of individuals with complete or incomplete bilateral cleft lip; patient age 12 to 25 years (mean age 13.8 years). Results: Data were statistically analyzed to compare the possible association between presence of hypodontia and supernumerary teeth, according to gender and cleft type. Among the 150 patients evaluated, 80 (53.3%) were male and 70 (46.6%) were female. Since no statistically significant difference was found in hypodontia between genders, data were grouped for analysis, revealing prevalence of 31.6% for complete clefts and 26.8% for incomplete clefts. Concerning supernumerary teeth, the prevalence for the male patients was 28.2% for complete cleft lip and 29.2% for incomplete cleft lip. For female patients, the prevalence was significantly (p = .006) lower for complete cleft lip (17.5%) than for incomplete cleft lip (46.6%). Conclusions: The present results suggest that the prevalence of hypodontia was higher in patients with complete cleft lip, and the prevalence of supernumerary teeth was higher in patients with incomplete cleft lip, in agreement with previous studies.

Programs to compute magnetization to density ratio and the magnetization inclination from 3-D gravity and magnetic anomalies

Vector field formulation based on the Poisson theorem allows an automatic determination of rock physical properties (magnetization to density ratio-MDR-and the magnetization inclination-MI) from combined processing of gravity and magnetic geophysical data. The basic assumptions (i.e., Poisson conditions) are: that gravity and magnetic fields share common sources, and that these sources have a uniform magnetization direction and MDR. In addition, the previously existing formulation was restricted to profile data, and assumed sufficiently elongated (2-D) sources. For sources that violate Poisson conditions or have a 3-D geometry, the apparent values of MDR and MI that are generated in this way have an unclear relationship to the actual properties in the subsurface. We present Fortran programs that estimate MDR and MI values for 3-D sources through processing of gridded gravity and magnetic data. Tests with simple geophysical models indicate that magnetization polarity can be successfully recovered by MDR-MI processing, even in cases where juxtaposed bodies cannot be clearly distinguished on the basis of anomaly data. These results may be useful in crustal studies, especially in mapping magnetization polarity from marine-based gravity and magnetic data. (c) 2007 Elsevier Ltd. All rights reserved.

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

Mandibulofacial Syndrome With Growth and Mental Retardation, Microcephaly, Ear Anomalies With Skin Tags, and Cleft Palate in a Mother and Her Son: Autosomal Dominant or X-Linked Syndrome?

We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance. (C) 2009 Wiley-Liss, Inc.