"Examining the link between tooth agenesis and papillary thyroid cancer: is there a risk factor?" Observational study.

BACKGROUND: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease. MATERIALS AND METHODS: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age. RESULTS: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC. CONCLUSION: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.

Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.

Goltz-Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog-Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz-Gorlin syndrome.

Is there an association between molar incisor hypomineralization and developmental dental anomalies? A case-control study.

BACKGROUND: The aim of this study was to determine whether there is any association between molar incisor hypomineralization and developmental dental anomalies. METHODS: Two pediatric dentists evaluated panoramic radiographs of 429 children aged 8-14 years with molar incisor hypomineralization (study group) and 437 children without molar incisor hypomineralization (control group) in terms of developmental dental anomalies. Twelve different developmental dental anomalies were categorized into four types: size (microdontia, macrodontia); position (ectopic eruption of maxillary permanent first molars, infraocclusion of primary molars); shape (fusion, gemination, dilaceration, taurodontism, peg-shaped maxillary lateral incisors); and number (hypodontia, oligodontia, hyperdontia) anomalies. RESULTS: No significant difference was observed in the frequencies of developmental dental anomalies between the study and control groups in total, females, and males (p > 0.05). A statistically significant difference was found between the distribution of developmental size, position, shape, and number anomalies between the study and control groups (p = 0.024). The most common anomaly in both groups was hypodontia (6.3% and 5.9%, respectively). There was a significant difference between the study and control groups in terms of subtypes of shape anomaly in all children and females (p = 0.045 and p = 0.05, respectively). CONCLUSIONS: While a significant difference was observed between the distributions of types of developmental dental anomalies between individuals with and without molar incisor hypomineralization, there was no difference in terms of the frequency of developmental dental anomalies.

Mandibular second premolar distoangulation: a longitudinal follow-up from the mixed to the permanent dentition.

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.

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.

Association between maxillary canine impaction and other dental anomalies: radiological study of a mixed dentition children's cohort from an orthodontic clinic.

PURPOSE: To investigate the significance of association between maxillary impacted canines and various dental anomalies. METHODS: Files of 874 orthodontic patients were evaluated for the presence of maxillary impacted canines. From this sample, a group of 97 patients (39 males and 58 females) with at least 1 impacted maxillary canine consisted the study group. This group was compared to a control group of 97 patients (42 males and 55 females) that was created by random selection from the initial sample without maxillary canine impaction. The impaction diagnosis was made from the panoramic radiographs. Chi-square test was used to perform the analysis for significant associations. Stepwise discriminant analysis, binary logistic regression and classification tree were used to identify best combinations. RESULTS: Statistically significant difference was found for peg-shaped maxillary lateral incisors and infraoccluded deciduous molars. The presence of peg-shaped upper lateral incisors arises the probability of impacted canine to 83.3%, a distal displaced unerupted second premolar to 63.16% and the impaction of any other teeth to 80% as showed by the classification tree. CONCLUSIONS: The presence of peg-shaped maxillary lateral incisors and infraocclusion of deciduous molars can be considered major valuable early risk indicators for maxillary canine impaction, because they manifest before the maxillary canine eruption. Special consideration should be given on distal displaced unerupted second premolar and the impaction of any other teeth. Patients with these dental anomalies are candidates for future interceptive treatment for canine eruption.

Analysis of congenital deciduous teeth absence and its permanent teeth phenotype.

OBJECTIVES: This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs. METHODS: A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis. RESULTS: The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529). CONCLUSIONS: Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.

Microcephaly as a risk factor for dental alterations: A case-control study.

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.

Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses / 中华儿科杂志

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.

Analysis of congenital deciduous teeth absence and its permanent teeth phenotype / 华西口腔医学杂志

OBJECTIVES@#This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs.@*METHODS@#A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis.@*RESULTS@#The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529).@*CONCLUSIONS@#Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.

Non-syndromic hypodontia of maxillary lateral incisors and its association with other dental anomalies.

BACKGROUND: Tooth agenesis (TA) is the developmental absence of one or more teeth and is the most common craniofacial disorder in humans. Maxillary lateral incisor agenesis (MLIA) is a specific subtype of TA and can have esthetic, functional, and psychosocial implications for patients. The aim of this study was to evaluate the prevalence of MLIA amongst patients with non-syndromic tooth agenesis, as well as its association with other dental anomalies. MATERIALS AND METHODS: The dental records of 240 patients with non-syndromic congenitally missing teeth treated at the University of Alabama at Birmingham Department of Orthodontics were reviewed. Dolphin Imaging software was used to identify missing teeth, microdonts, peg laterals, impactions, and transpositions. Data were analyzed using chi-square or Fisher's exact test. All the tests were two-sided at the significance level of 0.05 (SAS 9.4). RESULTS: In the patient cohort, MLIA prevalence was 37.5% (second most common) and no gender or ethnic differences were identified. We also observed the bilaterally missing lateral incisors more frequently than the unilateral presentation (p = 0.0006). Additionally, 62.5% of patients with unilateral MLIA displayed a contralateral tooth that was a peg (p = 0.0001); however, no association was found with other microdonts. Furthermore, of the 90 patients missing at least one maxillary lateral incisor, 42.2% were missing another tooth type and 10% of MLIA patients also had an impacted tooth (mainly maxillary canines). However, these were not statistically significant. Finally, no transposed teeth were found in our patients. CONCLUSIONS: This study found that maxillary lateral incisors were the second most frequently missing teeth. When clinicians diagnose congenital absence of a maxillary lateral incisor, the patient should be evaluated for other missing teeth, peg lateral incisors, or potential impactions, especially maxillary canines.

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.

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.

Orofacial features in children with microcephaly associated with Zika virus: A scoping review.

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.

Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case.

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.

Unilateral agenesis of permanent superior canine in familial peg-shaped lateral incisors: rare case report and literature review.

Agenesis of permanent maxillary and mandibular canines is very rare; one to all four can be missing, isolated or in association with other missing teeth or with dental morphology abnormalities. Such cases can present functional, esthetic, and psychological problems, since the canine's role in functional occlusion and in obtaining an aesthetic smile is crucial. Frequently, the canine's absence from the arch is caused by impaction; its congenital absence is extremely rare in patients with no associated syndrome. The aim of this paper was to present a very rare case of a non-syndromic Romanian adult female patient with a unilateral permanent maxillary missing canine, in association with peg-shaped maxillary lateral permanent incisors, which can have a genetic cause, since the same morphological abnormality was present in her father and her younger sister, who also presented a rare situation of bilateral upper transposition between the canines and lateral incisors. The association of a permanent maxillary canine hypodontia with bilateral "peg laterals" and transposition between the maxillary canine and the peg-shaped lateral incisors is also rare as a family character in healthy patients. Future statistical studies are necessary to establish the incidence of permanent maxillary canine agenesis in Romanian population. Also, the article includes a detailed literature review of reported cases of agenesis of permanent maxillary canines.

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.

Background Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations along the transforming growth factor-beta (TGF-ß) pathway, LDS is presently classified into six subtypes. Methods We present the oro-dental features of a cohort of 40 patients with LDS from five subtypes. Results The most common oro-dental manifestations were the presence of a high-arched and narrow palate, and enamel defects. Other common characteristics included bifid uvula, submucous cleft palate, malocclusion, dental crowding and delayed eruption of permanent teeth. Both deciduous and permanent teeth had enamel defects in some individuals. We established a grading system to measure the severity of enamel defects, and we determined that the severity of the enamel anomalies in LDS is subtype-dependent. In specific, patients with TGF-ß receptor II mutations (LDS2) presented with the most severe enamel defects, followed by patients with TGF-ß receptor I mutations (LDS1). LDS2 patients had higher frequency of oro-dental deformities in general. Across all five subtypes, as well as within each subtype, enamel defects exhibited incomplete penetrance and variable expression, which is not associated with the location of the gene mutations. Conclusion This study describes, in detail, the oro-dental manifestations in a cohort of LDS, and we conclude that LDS2 has the most severely affected phenotype. This extensive characterisation, as well as some identified distinguishing features can significantly aid dental and medical care providers in the diagnosis and clinical management of patients with this rare connective tissue disorder.

Asymmetry-index and orthodontic facial analysis of children with foetal alcohol syndrome using 3D-facial scans.

BACKGROUND: The foetal alcohol spectrum disorder (FASD) is a complex and heterogenic disorder, caused by gestational exposure to alcohol. Patients with foetal alcohol syndrome (FAS-most severe form) show abnormal facial features. Our study aims at finding additional reliable and objective parameters for FAS diagnosis. METHODS: Facial three-dimensional scans of 30 children with FAS and 30 controls were analysed. Orthodontic profile analysis (concerning position of upper and lower jaw) was performed. Vertical facial proportions were taken and facial asymmetry index (right to left side) was calculated. RESULTS: Profile type was significantly different for children with FAS (p = 0.001) with lower jaws more frequently in a retral position. Profile angle was significantly larger in the group with FAS (p = 0.009). Children with FAS had shorter middle thirds and longer lower thirds of the face (p < 0.001). Stomion (point between upper and lower lip) was located significantly more caudally in the FAS group (p < 0.001). Facial asymmetry index was not significantly different. CONCLUSIONS: Children with FAS differ significantly from controls in vertical and sagittal facial measurements. Profile analysis and measurement of vertical proportions are easy to apply standard procedures in everyday orthodontic practice and could be time-saving and objective means for additional verification of FAS.