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1.
Eur J Orthod ; 45(6): 731-738, 2023 11 30.
Article in English | MEDLINE | ID: mdl-37452680

ABSTRACT

OBJECTIVE: The aim of this study was to assess the frequency of mandibular second premolar (MnP2) distoangulation among orthodontic patients and the angular changes after a longitudinal follow-up. METHODS: The sample was collected from the orthodontic records of 865 patients. The distoangulation group was composed of 42 patients (mean age 9.29 ±â€…1.24 years, 16 male, 26 female) with distoangulation of MnP2. The control group was composed of 32 patients (mean age 9.38 ±â€…1.10 years, 15 male, and 17 female) without distoangulation of MnP2. Panoramic radiographs taken in the mixed (T1) and the early permanent dentition (T2) were analyzed in both groups. Longitudinal angular changes (distal angle θ and premolar-molar angle γ), degree of root formation, second premolar depth, and prevalence of associated dental anomalies were analyzed. Intergroup comparison was performed with Mann-Whitney, t-tests, and chi-square tests (P < 0.05). RESULTS: The prevalence of MnP2 distoangulation in the mixed dentition was 4.85%. The distoangulation group showed a smaller initial distal angle (59.34o ±â€…8.41) when compared to control group (79.88o ±â€…7.60). The spontaneous eruption of the MnP2 with distoangulation was observed in 76.57% of the sample. MnP2 distoangulation was significantly associated with agenesis of its antimere, small maxillary lateral incisors, and deciduous molar infraocclusion. LIMITATIONS: Severe cases of MnP2 distoangulation were absent in this study. CONCLUSIONS: The frequency of MnP2 distoangulation among orthodontic patients was 4.85%. Mild to moderate distoangulated Mnp2 spontaneously uprighted from the mixed to the permanent dentition. Small lateral incisors, second premolar agenesis, and infraocclusion of deciduous molar were frequently found in cases with MnP2 distoangulation.


Subject(s)
Tooth Abnormalities , Tooth Eruption, Ectopic , Humans , Male , Female , Child , Dentition, Permanent , Bicuspid/diagnostic imaging , Follow-Up Studies , Tooth Abnormalities/complications , Tooth Abnormalities/epidemiology , Dentition, Mixed
2.
Oral Dis ; 29(5): 2265-2271, 2023 Jul.
Article in English | MEDLINE | ID: mdl-35332642

ABSTRACT

OBJECTIVE: This study aimed to assess whether microcephaly is a risk factor for alterations in the chronology and sequence of tooth eruption and for developmental defects of enamel. MATHERIALS AND METHODS: In this case-control study, 81 children aged 30-36 months, including 40 normoreactive children and 41 with microcephaly, were submitted to oral clinical examination to determine the frequency of alterations in the chronology and sequence of tooth eruption and developmental enamel defects. The sample was matched for sex and age (1:1) and allocated to the case (presence of dental alterations) and control (absence of dental alterations) groups. Gestational age, birthweight and socioeconomic characteristics were also analyzed. Chi-square test and Fisher's exact test were applied (α = 0.05). RESULTS: Microcephaly was significantly associated with delayed tooth eruption, alterations in the sequence of tooth eruption, and defects in dental enamel (p < 0.001). Low birthweight also showed a significant association with this alterations (p < 0.005) and prematurity was associated with defects in enamel development (p < 0.005). CONCLUSION: Microcephaly is a risk factor for alterations in the tooth eruption process and enamel formation in primary teeth.


Subject(s)
Dental Enamel Hypoplasia , Microcephaly , Tooth Abnormalities , Child , Humans , Dental Enamel Hypoplasia/epidemiology , Birth Weight , Microcephaly/epidemiology , Microcephaly/complications , Case-Control Studies , Tooth Abnormalities/complications , Risk Factors , Tooth, Deciduous
3.
Clin Oral Investig ; 26(8): 5089-5103, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35729285

ABSTRACT

OBJECTIVE: To evaluate the association between orofacial clefts (OFC) and tooth abnormalities (TA). METHODS: We searched PubMed, Scopus, Web of Science, Cochrane Library, LILACS, and BBO, and in the gray literature and selected observational studies that evaluated the association between TA and OFC. The risk of bias was analyzed using the Newcastle-Ottawa Scale. A random-effects meta-analysis was performed comparing the presence and absence of OFC, cleft type-cleft palate (CP) and cleft lip with or without palate (CL/P)-and cleft laterality-unilateral and bilateral. The certainty of evidence was evaluated using the GRADE approach. RESULTS: A total of 99 studies were included in the qualitative analysis, and 37 were included in the meta-analysis. Only four studies were classified as low risk of bias. Significant associations were observed between the presence of OFC and tooth agenesis (OR = 19.46; 95%CI = 4.99-75.96), supernumerary teeth (OR = 4.04; 95%CI = 1.26-12.99), developmental defects of enamel (OR = 3.15; 95%CI = 1.28-7.80), microdontia (OR = 15.57; 95%CI = 1.06-228.51), and taurodontism (OR = 1.74; 95%CI = 1.74-2.86). Individuals with CP had a lower frequency of supernumerary teeth (OR = 0.22; 95%CI = 0.08-0.64), peg-shaped tooth (OR = 0.31; 95%CI = 0.12-0.80), and morphological TA (OR = 0.13; 95%CI = 0.04-0.45) than individuals with CL/P. No TA was significantly associated with cleft laterality (p > 0.05). The quality of the evidence was very low in all analyses. CONCLUSION: Individuals with OFC had a higher frequency of TA than those without OFC. Individuals with CP had a lower frequency of TA than individuals with CL/P. No TA was associated to cleft laterality. CLINICAL RELEVANCE: Help to identify the treatment needs of individuals affected by OFC, improving the services provided to this population.


Subject(s)
Cleft Lip , Cleft Palate , Tooth Abnormalities , Tooth, Supernumerary , Cleft Lip/complications , Cleft Lip/epidemiology , Cleft Palate/complications , Cleft Palate/epidemiology , Humans , Tooth Abnormalities/complications , Tooth Abnormalities/epidemiology , Tooth, Supernumerary/complications
4.
Oral Dis ; 28(4): 1022-1028, 2022 May.
Article in English | MEDLINE | ID: mdl-33590546

ABSTRACT

OBJECTIVE: To analyze published scientific evidence about the most common orofacial disorders in children with microcephaly associated with ZIKV infection. METHODS: Through a scoping review, we respond to the search question was formulated: "What are the orofacial alterations in children with microcephaly associated with ZIKV?" It was performed a search in PubMed, EMBASE, Scopus, and Health Virtual Library. It was selected papers wrote in English, Portuguese, or Spanish. An evidence quality analysis was performed using the Agency for Healthcare Research and Quality classification. RESULTS: It was included 11 studies performed in the Brazilian Northeast region. The studies were carried out between 2018 and 2020. The main related alterations were delay in the tooth-eruption and deformation in the oral structures. CONCLUSION: The results observed in our work show moderate scientific evidence regarding the association of ZIKV with orofacial alterations in children with microcephaly due to the classifications of the quality of evidence of each one of the included studies. The main changes reported were in the chronology of tooth eruption, alteration in teeth, and oral structures.


Subject(s)
Microcephaly , Pregnancy Complications, Infectious , Tooth Abnormalities , Zika Virus Infection , Zika Virus , Brazil/epidemiology , Child , Female , Humans , Microcephaly/complications , Pregnancy , Tooth Abnormalities/complications , Tooth Eruption , Zika Virus Infection/complications
5.
J. oral res. (Impresa) ; 8(6): 517-521, dic. 28, 2019. ilus
Article in English | LILACS | ID: biblio-1224617

ABSTRACT

Ameloblastic fibro-odontoma (AFO) is a mixed odontogenic tumor, which has an epithelial and mesenchymal component. It can be observed in imaging tests as a radiomixed lesion, with some authors claiming it represents only the predecessor of an odontoma. Epidemiologically, it appears between the second and third decade of life, predominantly in males and with a predilection for the posterior area of the mandible. This lesion presents a good prognosis and it responds well to enucleation by curettage with a low rate of recurrence. In the present article, two cases of ameloblastic fibro-odontoma in an unusual region of the maxilla are presented.


El Fibro-odontoma ameloblástico (FOA), es una lesión tumoral mixta de origen odontogénico, el cual tiene un componente epitelial y mesenquimático. En su imagenología se observa como una lesión radiomixta, debido a que algunos autores afirman que este no es más que el predecesor de un odontoma. Epidemiológicamente, se presenta entre la segunda y tercera década de la vida, preferencia por sexo masculino y predilección por el área posterior de la mandíbula. Es una lesión de buen pronóstico que responde bien a la enucleación por curetaje con baja tasa de recidiva. En el presente artículo, se presentan dos casos de fibro-odontoma ameloblástico en una región inusual de los maxilares.


Subject(s)
Humans , Male , Female , Child , Adolescent , Tooth Abnormalities/complications , Maxillary Neoplasms/complications , Odontoma/complications , Radiography, Panoramic , Mandible/diagnostic imaging
6.
Oral Dis ; 25(6): 1446-1464, 2019 Sep.
Article in English | MEDLINE | ID: mdl-30338628

ABSTRACT

OBJECTIVE: To evaluate studies assessing the prevalence of dental caries and developmental defects of enamel (DDE) in individuals with chronic kidney disease (CKD) in comparison with individuals without CKD. MATERIALS AND METHODS: Electronic searches were performed in PubMed, Web of Science, Scopus, Medline via Ovid, and ProQuest databases from their inception date until February 2018. Two review authors independently selected the studies, extracted data, and assessed the methodological quality. Meta-analysis was performed. RESULTS: Twenty-seven studies were included in this study. For permanent teeth, 14 studies found that individuals without CKD had higher dental caries scores than those with CKD. However, only five studies presented results with a statistically significant difference between groups. Among the studies evaluating primary teeth, five showed that individuals without CKD had higher dental caries scores than those with CKD. Five studies showed that individuals with CKD had a significantly higher prevalence of DDE than individuals without CKD. The meta-analyses showed that individuals without CKD had significantly higher scores of dental caries teeth and surfaces than individuals with CKD. For DDE, no statistical difference between groups was observed. CONCLUSIONS: Individuals with CKD present lower dental caries scores and a higher prevalence of DDE in comparison with individuals without CKD.


Subject(s)
Dental Caries/epidemiology , Dental Enamel/abnormalities , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/epidemiology , Tooth Abnormalities/epidemiology , Case-Control Studies , Dental Caries/etiology , Humans , Prevalence , Tooth Abnormalities/complications , Tooth, Deciduous
7.
J Feline Med Surg ; 21(8): 750-764, 2019 08.
Article in English | MEDLINE | ID: mdl-30345863

ABSTRACT

OBJECTIVES: The aim of this study was to document the incidence of preceding and subsequent fractures to the patellar fractures in cats with patellar fractures and dental anomaly syndrome. METHODS: Records of cats with patellar fracture and dental anomaly syndrome were retrieved from the combined databases at the University of Bristol, UK, and Exclusively Cats Veterinary Hospital, USA. A request was made to complete a questionnaire to obtain long-term follow-up of these cats with respect to their current status and fractures to other bones; radiographs and histories were requested and were reviewed for treatment of ongoing fractures and outcome. RESULTS: Of the 191 cases reported with this syndrome, 92 cats (48.2%) had dental anomalies and 78 (40.8%) had fractures to other bones; 21 cats sustained the fractures preceding the patellar fractures and 57 subsequently. In total, there were 175 fractures: acetabulum (25%), tibia (22%), ischium (15.4%), humeral condyle (13.7%), calcaneus (5.1%), ilium (5.1%), pubis (3.4%) and other bones (10.2%). The majority of these fractures were characteristic of insufficiency (stress) fractures with a very similar configuration in each bone. CONCLUSIONS AND RELEVANCE: A high proportion of cats with patellar fracture and dental anomaly syndrome will have preceding or subsequent fractures to their patellar fractures. In this study, >10% of cats suffered characteristic fractures preceding the patellar fractures. The presence of these fractures should alert the veterinarian to the possibility that the cat is affected by patellar fracture and dental anomaly syndrome.


Subject(s)
Cat Diseases/epidemiology , Fractures, Bone , Patella/injuries , Tooth Abnormalities , Animals , Cats , Fractures, Bone/complications , Fractures, Bone/epidemiology , Fractures, Bone/veterinary , Incidence , Syndrome , Tooth Abnormalities/complications , Tooth Abnormalities/epidemiology , Tooth Abnormalities/veterinary
8.
Int. j. odontostomatol. (Print) ; 12(3): 205-210, Sept. 2018. graf
Article in English | LILACS | ID: biblio-975734

ABSTRACT

ABSTRACT: Williams-Beuren syndrome is a rare disease with manifestations such as cardiovascular changes, distinct facial features, mental retardation, and learning disabilities. Oral manifestations are not commonly described and can often be misdiagnosed. This report describes the case of a male patient diagnosed with Williams-Beuren syndrome presenting classic clinical features that affect the face as a convex profile, with maxillary protrusion and mandibular retrusion, a discreetly acute nasolabial angle, passive labial sealing, and an open mandibular angle characteristic of Class II skeletal pattern. In addition, the patient has oral manifestations such as the absence of some dental elements, a Class II of Angle 1st division, dental cross bite, and atresic arches. The periodontal condition presents with generalized gingivitis. Knowledge about the possible manifestations of Williams-Beuren syndrome is important to improve the ability of orthodontists to better serve these patients.


RESUMEN: El síndrome de Williams-Beuren es una enfermedad rara con manifestaciones tales como cambios cardiovasculares, diversas características faciales, retraso mental y problemas de aprendizaje. Las manifestaciones orales no se describen comúnmente y con frecuencia se pueden diagnosticar erróneamente. Este informe describe el caso de un paciente masculino diagnosticado con síndrome de Williams-Beuren que presentaba características clínicas clásicas que afectaban la cara como un perfil convexo, con protrusión maxilar y retrusión mandibular, un ángulo nasolabial discretamente agudo, sellado labial pasivo y un ángulo mandibular abierto característico del patrón esquelético clase II. Además, el paciente presentaba manifestaciones orales tales como, ausencia de algunos elementos dentales, una clase II de Angle 1ª división, mordida dental cruzada y arcos acrílicos. La condición periodontal se presentaba con gingivitis generalizada. El conocimiento sobre las posibles manifestaciones del síndrome de Williams-Beuren es importante ya que mejora la capacidad de los ortodoncistas para atender mejor a estos pacientes.


Subject(s)
Humans , Male , Adult , Williams Syndrome/diagnosis , Williams Syndrome/genetics , Orthodontics , Tooth Abnormalities/complications , Brazil , Radiography , Radiography, Panoramic , Cephalometry , Dental Care , Disabled Persons , Malocclusion/complications
9.
Clin Oral Investig ; 21(5): 1845-1852, 2017 Jun.
Article in English | MEDLINE | ID: mdl-27766487

ABSTRACT

OBJECTIVES: Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtained by examining case reports; however, an overall characterization of such alterations remains lacking. The objective of this study was to determine the frequency, type and location of dental alterations in IP using a case series. METHODS: Fourteen patients (9 children and 5 adults) with a clinical diagnosis of IP who presented dental anomalies were included in this study. All patients were administered a clinical questionnaire, dental examination and radiological investigation. RESULTS: In the present case series, agenesis of primary dentition was present in 60 % of patients and agenesis of permanent tooth was present in 92.8 % of patients. Most cases were missing at least 6 teeth. Second molar agenesis was present in 13 patients (92.8 %). Anomalies in dental crowns occurred in 71.4 % of cases, and the central incisor was most frequently affected. Two adult patients still had primary teeth. Malocclusion was found in 10 patients (71.4 %). High-arched palate was observed in 7 (50 %) patients. CONCLUSIONS: Patients with IP present alterations in both primary and permanent dentition. Because the agenesis of permanent teeth is more common, primary teeth are not always replaced. In addition, the durability of primary dentition appears to be greater in IP. CLINICAL SIGNIFICANCE: This study shows that patients with IP experience significant loss of teeth, especially in permanent dentition, and have an increased risk of high-arched palate compared to the general population. Prophylactic care of primary teeth in IP is relevant for improving functional and aesthetic outcomes until dental prostheses are implanted.


Subject(s)
Incontinentia Pigmenti/complications , Tooth Abnormalities/complications , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Incontinentia Pigmenti/diagnostic imaging , Male , Radiography, Panoramic , Surveys and Questionnaires , Tooth Abnormalities/diagnostic imaging
10.
J. appl. oral sci ; J. appl. oral sci;24(6): 549-554, Nov.-Dec. 2016. tab
Article in English | LILACS, BBO - Dentistry | ID: biblio-841152

ABSTRACT

ABSTRACT The early recognition of risk factors for the occurrence of palatally displaced canines (PDC) can increase the possibility of impaction prevention. Objective To estimate the risk of PDC occurrence in children with dental anomalies identified early during mixed dentition. Material and Methods The sample comprised 730 longitudinal orthodontic records from children (448 females and 282 males) with an initial mean age of 8.3 years (SD=1.36). The dental anomaly group (DA) included 263 records of patients with at least one dental anomaly identified in the initial or middle mixed dentition. The non-dental anomaly group (NDA) was composed of 467 records of patients with no dental anomalies. The occurrence of PDC in both groups was diagnosed using panoramic and periapical radiographs taken in the late mixed dentition or early permanent dentition. The prevalence of PDC in patients with and without early diagnosed dental anomalies was compared using the chi-square test (p<0.01), relative risk assessments (RR), and positive and negative predictive values (PPV and NPV). Results PDC frequency was 16.35% and 6.2% in DA and NDA groups, respectively. A statistically significant difference was observed between groups (p<0.01), with greater risk of PDC development in the DA group (RR=2.63). The PPV and NPV was 16% and 93%, respectively. Small maxillary lateral incisors, deciduous molar infraocclusion, and mandibular second premolar distoangulation were associated with PDC. Conclusion Children with dental anomalies diagnosed during early mixed dentition have an approximately two and a half fold increased risk of developing PDC during late mixed dentition compared with children without dental anomalies.


Subject(s)
Humans , Male , Female , Child , Tooth Abnormalities/complications , Tooth Eruption, Ectopic/etiology , Cuspid/abnormalities , Dentition, Mixed , Tooth Abnormalities/epidemiology , Tooth Abnormalities/diagnostic imaging , Tooth Eruption, Ectopic/epidemiology , Tooth Eruption, Ectopic/diagnostic imaging , Tooth, Impacted/etiology , Brazil/epidemiology , Radiography, Panoramic , Prevalence , Retrospective Studies , Risk Factors , Longitudinal Studies , Sex Distribution , Risk Assessment , Cuspid/diagnostic imaging , Early Diagnosis , Maxilla/abnormalities
11.
Rev. Assoc. Paul. Cir. Dent ; 70(3): 302-305, jul.-set. 2016. ilus
Article in Portuguese | LILACS, BBO - Dentistry | ID: lil-797087

ABSTRACT

diagnosticadas precocemente. Este trabalho teve como finalidade relatar o caso clínico de uma paciente de três anos, gênero feminino, cuja queixa principal era a estética dos dentes anteriores superiores,devido ao tamanho desproporcional de um elemento dentário, que se apresentava também com coloração alterada. Ao exame clínico e radiográfico diagnosticou-se uma anomalia denominada fusão dentária, união de dois dentes adjacentes, na região anteros superior. O tratamento consistiu na secção dos dois dentes e exodontia do supranumerário, seguida do tratamento restaurador do incisivo central direito que apresentava lesão de cárie. Concluiu-se que, por meio de adequado diagnóstico e planejamento, o tratamento proposto foi efetivo na reabilitação da função e da estética,assim como na prevenção de complicações clínicas e ortodônticas que poderiam advir da anomalia dentária descrita, caso não tratada. A autoestima da criança foi restabelecida.


Dental anomalies can cause serious disorders in the development of teeth if not diagnose dearly. This study aimed to report a case of a three-year-old patient, female, who together with her responsible, whose main complaint was the aesthetics of the upper front teeth due to disproportionatesize and altered staining. During the clinical and radiographic examinations, ananomaly called teeth merger, which is the union of two adjacent teeth, was diagnosed in the upper anterior region. The treatment included the sectioning of the two teeth and extraction of the super numerary, followed by restorative treatment of the right central incisor that had caries lesions. It was concluded that, through proper diagnosis and planning, the proposed treatment was effective in the rehabilitation of function and aesthetics, as well as in the prevention of clinical and orthodontic complications that could result from the dental anomaly described, ifuntreated. The child’s self-esteem was re-established.


Subject(s)
Humans , Male , Female , Child , Tooth Abnormalities/complications , Tooth Abnormalities/diagnosis , Tooth Abnormalities/genetics , Tooth Abnormalities/prevention & control , Fused Teeth/classification , Fused Teeth/complications , Fused Teeth/diagnosis , Fused Teeth/prevention & control , Rehabilitation/methods , Rehabilitation/organization & administration
12.
J Appl Oral Sci ; 24(6): 549-554, 2016.
Article in English | MEDLINE | ID: mdl-28076458

ABSTRACT

OBJECTIVE: To estimate the risk of PDC occurrence in children with dental anomalies identified early during mixed dentition. MATERIAL AND METHODS: The sample comprised 730 longitudinal orthodontic records from children (448 females and 282 males) with an initial mean age of 8.3 years (SD=1.36). The dental anomaly group (DA) included 263 records of patients with at least one dental anomaly identified in the initial or middle mixed dentition. The non-dental anomaly group (NDA) was composed of 467 records of patients with no dental anomalies. The occurrence of PDC in both groups was diagnosed using panoramic and periapical radiographs taken in the late mixed dentition or early permanent dentition. The prevalence of PDC in patients with and without early diagnosed dental anomalies was compared using the chi-square test (p<0.01), relative risk assessments (RR), and positive and negative predictive values (PPV and NPV). RESULTS: PDC frequency was 16.35% and 6.2% in DA and NDA groups, respectively. A statistically significant difference was observed between groups (p<0.01), with greater risk of PDC development in the DA group (RR=2.63). The PPV and NPV was 16% and 93%, respectively. Small maxillary lateral incisors, deciduous molar infraocclusion, and mandibular second premolar distoangulation were associated with PDC. CONCLUSION: Children with dental anomalies diagnosed during early mixed dentition have an approximately two and a half fold increased risk of developing PDC during late mixed dentition compared with children without dental anomalies.


Subject(s)
Cuspid/abnormalities , Dentition, Mixed , Tooth Abnormalities/complications , Tooth Eruption, Ectopic/etiology , Brazil/epidemiology , Child , Cuspid/diagnostic imaging , Early Diagnosis , Female , Humans , Longitudinal Studies , Male , Maxilla/abnormalities , Prevalence , Radiography, Panoramic , Retrospective Studies , Risk Assessment , Risk Factors , Sex Distribution , Tooth Abnormalities/diagnostic imaging , Tooth Abnormalities/epidemiology , Tooth Eruption, Ectopic/diagnostic imaging , Tooth Eruption, Ectopic/epidemiology , Tooth, Impacted/etiology
13.
Am J Med Genet A ; 167A(11): 2830-3, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26250054

ABSTRACT

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations.


Subject(s)
Esophageal Atresia/complications , Microphthalmos/complications , Nervous System Malformations/complications , Tooth Abnormalities/complications , Child, Preschool , Esophageal Atresia/genetics , Humans , Incisor/diagnostic imaging , Infant, Newborn , Male , Microphthalmos/genetics , Mutation , Nervous System Malformations/genetics , Radiography , SOXB1 Transcription Factors/genetics , Tooth Abnormalities/diagnostic imaging , Tooth Abnormalities/genetics
14.
BMC Med Genet ; 16: 8, 2015 Feb 21.
Article in English | MEDLINE | ID: mdl-25928877

ABSTRACT

BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular analysis and clinical phenotypes of five individuals from two consanguineous Brazilian families with attenuated Raine Syndrome with previously unreported features. METHODS: The medical and dental clinical records were reviewed. Extracted deciduous and permanent teeth as well as oral soft tissues were analysed. Whole exome sequencing was undertaken and FAM20C cDNA sequenced in family 1. RESULTS: Family 1 included 3 siblings with hypoplastic Amelogenesis Imperfecta (AI) (inherited abnormal dental enamel formation). Mild facial dysmorphism was noted in the absence of other obvious skeletal or growth abnormalities. A mild hypophosphataemia and soft tissue ectopic mineralization were present. A homozygous FAM20C donor splice site mutation (c.784 + 5 g > c) was identified which led to abnormal cDNA sequence. Family 2 included 2 siblings with hypoplastic AI and tooth dentine abnormalities as part of a more obvious syndrome with facial dysmorphism. There was hypophosphataemia, soft tissue ectopic mineralization, but no osteosclerosis. A homozygous missense mutation in FAM20C (c.1487C > T; p.P496L) was identified. CONCLUSIONS: The clinical phenotype of non-lethal Raine Syndrome is more variable, including between affected siblings, than previously described and an adverse impact on bone growth and health may not be a prominent feature. By contrast, a profound failure of dental enamel formation leading to a distinctive hypoplastic AI in all teeth should alert clinicians to the possibility of FAM20C mutations.


Subject(s)
Abnormalities, Multiple/genetics , Casein Kinase I/genetics , Cleft Palate/genetics , Exophthalmos/genetics , Extracellular Matrix Proteins/genetics , Microcephaly/genetics , Mouth Abnormalities/complications , Mutation , Osteosclerosis/genetics , Pedigree , Phenotype , Tooth Abnormalities/complications , Adolescent , Base Sequence , Child , Child, Preschool , Cleft Palate/complications , Exophthalmos/complications , Female , Humans , Male , Microcephaly/complications , Osteosclerosis/complications , Young Adult
15.
J Pediatr ; 167(1): 193-5, 2015 Jul.
Article in English | MEDLINE | ID: mdl-25935816

ABSTRACT

Hair abnormalities in ectodermal dysplasia may be difficult to identify. Among 16 patients with ectodermal dysplasia trichoscopy (hair dermoscopy) revealed predominance of pilosebaceous units with 1 hair (69%), abnormalities of hair shaft pigmentation (gray hair with single dark hairs, 56%), pili torti, trichothiodystrophy, trichorrhexis nodosa, and rarely, cicatricial alopecia.


Subject(s)
Ectodermal Dysplasia/complications , Hair/abnormalities , Hair/pathology , Microscopy , Adolescent , Adult , Alopecia/complications , Child , Female , Humans , Male , Tooth Abnormalities/complications , Young Adult
16.
Ophthalmic Plast Reconstr Surg ; 29(3): e67-8, 2013.
Article in English | MEDLINE | ID: mdl-23128532

ABSTRACT

The lacrimo-auriculo-dento-digital syndrome, also known as Levy-Hollister syndrome, is a rare multiple congenital dysplasia characterized by malformation of the lacrimal apparatus and by aural, dental, and digital anomalies. Since the first report in 1973, different clinical findings such as urogenital malformations and facial dysmorphism have been described in the affected patients, showing that the phenotypic spectrum of the syndrome is broad. The authors report for the first time an association among giant dacryocystocele, alacrima, and agenesis of the lacrimal puncta in a patient with lacrimo-auriculo-dento-digital syndrome.


Subject(s)
Eye Diseases, Hereditary/etiology , Hearing Loss/complications , Lacrimal Apparatus Diseases/etiology , Mucocele/etiology , Syndactyly/complications , Tooth Abnormalities/complications , Abnormalities, Multiple/diagnosis , Adolescent , Eye Diseases, Hereditary/diagnosis , Female , Hearing Loss/diagnosis , Humans , Lacrimal Apparatus Diseases/complications , Lacrimal Apparatus Diseases/diagnosis , Magnetic Resonance Imaging , Mucocele/diagnosis , Nasolacrimal Duct/diagnostic imaging , Nasolacrimal Duct/pathology , Syndactyly/diagnosis , Tomography, X-Ray Computed , Tooth Abnormalities/diagnosis
17.
Med Oral Patol Oral Cir Bucal ; 18(1): e45-8, 2013 Jan 01.
Article in English | MEDLINE | ID: mdl-23229240

ABSTRACT

OBJECTIVE: The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingival (NG). STUDY DESIGN: Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens from two unrelated families with hereditary gingival fibromatosis (Families 1 and 2) and from one family with a gingival fibromatosis-associated dental abnormality (Family 3); NG samples were used for comparison. The results were analysed statistically. RESULTS: Immunoreactivity for α2-integrin and Hsp47 was observed in the nucleus of epithelial cells of both the basal and suprabasal layer and a more discreet signal was noted in connective tissue in all study samples. Hsp47 showed higher immunoreactivity in Family 2 compared with the other families (p ≤ 0.05). Despite the markup α2-integrin was higher in Family 3 there was no statistically significant difference between the families studied (p ≥ 0.05). CONCLUSIONS: Our results confirmed the heterogeneity of GF, such that similar patterns of expression of the condition may show differences in the expression of proteins such as Hsp47. Although no difference in α2-integrin expression was observed between GF and NG groups, future studies are necessary to determine the exact role of this protein in the various forms of GF and whether it contributes to GF pathogenesis.


Subject(s)
Fibromatosis, Gingival/complications , Fibromatosis, Gingival/metabolism , HSP47 Heat-Shock Proteins/biosynthesis , Integrin alpha2/biosynthesis , Tooth Abnormalities/complications , Tooth Abnormalities/metabolism , Cross-Sectional Studies , Fibromatosis, Gingival/genetics , Fibromatosis, Gingival/immunology , Humans , Tooth Abnormalities/immunology
18.
Cochrane Database Syst Rev ; (5): CD006963, 2012 May 16.
Article in English | MEDLINE | ID: mdl-22592716

ABSTRACT

BACKGROUND: Prominent lower front teeth may be associated with a large or prognathic lower jaw (mandible) or a small or retrusive upper jaw (maxilla). Edward Angle, who may be considered the father of modern orthodontics, classified the malocclusion in this situation as Class III. The individual is described as having a negative or reverse overjet as the lower front teeth are more prominent than the upper front teeth. OBJECTIVES: The purpose of this systematic review was to evaluate different treatments of Angle Class III malocclusion in adults. SEARCH METHODS: The following databases were searched: Cochrane Oral Health Group Trials Register (to 22 March 2012); CENTRAL (The Cochrane Library 2012, Issue 1); MEDLINE via OVID (1950 to 22 March 2012); EMBASE via OVID (1980 to 22 March 2012); LILACs (1982 to 22 March 2012); BBO (1986 to 22 March 2012); and SciELO (1997 to 22 March 2012). SELECTION CRITERIA: All randomized or quasi-randomized controlled trials of treatments for adults with an Angle Class III malocclusion were included. DATA COLLECTION AND ANALYSIS: Three review authors independently assessed the eligibility of the identified reports. Two review authors independently extracted data and assessed the risk of bias in the included studies. The mean differences with 95% confidence intervals were calculated for continuous data. MAIN RESULTS: Two randomized controlled trials were included in this review. There are different types of surgery for this type of malocclusion but only trials of mandible reduction surgery were identified. One trial compared intraoral vertical ramus osteotomy (IVRO) with sagittal split ramus osteotomy (SSRO) and the other trial compared vertical ramus osteotomy (VRO) with and without osteosynthesis. Neither trial found any difference between the two treatments. The trials did not provide adequate data for assessing effectiveness of the techniques described. AUTHORS' CONCLUSIONS: There is insufficient evidence from the two included trials, to conclude that one procedure is better or worse than another. The included trials compared different interventions and were at high risk of bias and therefore no implications for practice can be given. Further high quality randomized controlled trials with long term follow-up are required.


Subject(s)
Malocclusion, Angle Class III/surgery , Mandible/surgery , Osteotomy/methods , Adolescent , Adult , Female , Humans , Male , Osteotomy, Sagittal Split Ramus/methods , Randomized Controlled Trials as Topic , Tooth Abnormalities/complications , Young Adult
20.
BMJ Case Rep ; 20112011 Dec 21.
Article in English | MEDLINE | ID: mdl-22670010

ABSTRACT

Congenital syphilis is an infectious disease caused by Treponema pallidum transmitted by infected mother to her baby during pregnancy. Late congenital syphilis is recognised with 2 or more years after birth. One of the main aspects is observed with the triad of Hutchinson, characterised by the presence of interstitial keratitis, eighth nerve deafness and Hutchinson's teeth. This manuscript reports a case of late congenital syphilis presenting with Hutchinson's triad at an age of 7 years. These clinical features are related to syphilis present during pregnancy and at birth, however they commonly become apparent after 5-years of age.


Subject(s)
Syphilis, Congenital/diagnosis , Child , Deafness/complications , Deafness/congenital , Female , Humans , Keratitis/complications , Keratitis/congenital , Syphilis, Congenital/complications , Tooth Abnormalities/complications
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