Multivariate GWAS of Structural Dental Anomalies and Dental Caries in a Multi-Ethnic Cohort

Odontogenesis is a complex process, where disruption can result in dental anomalies and/or increase the risk of developing dental caries. Based on previous studies, certain dental anomalies tend to co-occur in patients, suggesting that these traits may share common genetic and etiological components. The main goal of this study was to implement a multivariate genome wide association study approach to identify genetic variants shared between correlated structural dental anomalies and dental caries. Our cohort (N = 3,579) was derived from the Pittsburgh Orofacial Clefts Study, where multiple dental traits were assessed in both the unaffected relatives of orofacial cleft (OFC) cases (n = 2,187) and unaffected controls (n = 1,392). We identified four multivariate patterns of correlated traits in this data: tooth agenesis, impaction, and rotation (AIR); enamel hypoplasia, displacement, and rotation (HDR); displacement, rotation, and mamelon (DRM); and dental caries, tooth agenesis and enamel hypoplasia (CAH). We analyzed each of these four models using genome-wide multivariate tests of association. No genome-wide statistically significant results were found, but we identified multiple suggestive association signals (P ≤ 10−5) near genes with known biological roles during tooth development, including ADAMTS9 and PRICKLE2 associated with AIR; GLIS3, WDR72, and ROR2 associated with HDR and DRM; ROBO2 associated with DRM; BMP7 associated with HDR; and ROBO1, SMAD2, and MSX2 associated with CAH. This is the first study to investigative genetic associations for multivariate patterns of correlated dental anomalies and dental caries. Further studies are needed to replicate these results in independent cohorts.

The Bronze Age People of Ban Kao: A Preliminary Analysis of the Human Remains from Ban Ta Po Archaeological Site, Western Thailand | คนสมัยส􀄬ำริดที่บ้ำนเก่ำ : รำยงำนขั้นต้นผลกำรวิเครำะห์โครงกระดูกมนุษย์จำกแหล่ง โบรำณคดีบ้ำนท่ำโป๊ะ ในภำคตะวันตกของประเทศไทย

Ban Ta Po is located in the Ban Kao Subdistrict within an area that the Thai-Danish Expedition uncovered the famous Neolithic Ban Kao Culture in 1960. The two-season excavation in 2018 and 2020 discovered 17 burials dated to the Bronze age. The analysis of these individuals that were buried there were mostly infants and children. Two children appeared with some disease lesions on bones like porous on the cranium, a carious tooth related to the localized enamel hypoplasia, and the femoral bowing. All possibly indicate metabolic bone disease caused by a nutrition deficiency.

Late dental effects of chemotherapy and radiotherapy in childhood cancer survivor: case report

Chemotherapy drugs and radiotherapy in the head and neck region are considered possible to interfere with odontogenesis. Patients may present alterations such as tooth agenesis, shortening or root malformation, enamel hypoplasia and microdontia. Such effects do not occur in adults, as they already have the dental structures formed. The objective of this study is to describe, through a case report, the dental alterations and implications for the clinical practice of a patient who received chemotherapy and radiotherapy in childhood. A 12- year-old female patient was diagnosed with embryonal rhabdomyosarcoma in the right parotid gland region at 5 years of age. Antineoplastic treatment consisted of IRS IV chemotherapy protocol: ifosfamide (IFO) - doxorubicin (DOXO) - etoposide (VP16) followed by vincristine - dactinomycin - cyclophosphamide (VAC) / vincristine - ifosfamide - etoposide (VIE) alternated, in addition to conventional radiotherapy, with a total dose of 45 Gy. The patient developed important dental alterations, such as root malformation in most teeth, microdontia and enamel hypoplasia, being essential the role of the dentist. Currently, after 6 years of anticancer treatment, she has regular dental follow-up.

Turner’s Tooth: A Rare Case with Review of Literature

Turner’s tooth is a form of enamel hypoplasia. Periapical pathology of the primary tooth is the main culprit behind the enamel deficiency in the permanent tooth. The altered tooth is called a Turner’s tooth. Color of the affected tooth varies from focal areas of white, yellow, or brown discoloration to extensive hypoplasia which can involve the entire crown. The crown of the permanent teeth develops mainly from six months and extends upto fifteen years. The part of the crown which gets damaged is directly related to the location of the ameloblastic activity at the time of damage. Therefore, we are here discussing the case of a seven year old boy which was reported to be the case of turner’s tooth hypoplasia.

Ellis-van Creveld Syndrome

Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a complex genetic disorder caused by the mutation of particular genes, characterized by dwarfism, polydactyly, abnormal nail structure, and dental malformations. Dental manifestations include enamel hypoplasia and hypodontia. Patients with Ellis-van Creveld syndrome may also have heart defects that would require specific diagnostic tools. The exact prevalence of this disorder remains poorly investigated because most risk groups are the Amish population, who refuse to share personal information voluntarily. We hereby present a case report of an eighteen-year-old young woman who presented with the chief complaint of poor appearance of teeth. The medical history includes ventricular hypertrophy and epilepsy. The patient had mandibular natal teeth that were removed. The first line of treatment was offered when the girl was seven, and standard check-ups and orthodontic manipulations were made within the last ten years. Overall, this case proves the importance of radiographic and physical examination, along with the multidisciplinary cooperation of dentists, surgeons, orthodontists, anesthetists, and cardiologists. Keywords: Dental enamel hypoplasia; Dwarfism; Ellis-van Creveld syndrome; Epilepsy; Malformed nails; Natal teeth