Cleidocranial dysplasia (CCD) is a rare, congenital disorder characterized by a unique constellation of skeletal and dental abnormalities. The imaging findings, combined with clinical examination, help establish a definitive diagnosis. Understanding the broad spectrum of manifestations in CCD is essential for effective management and treatment. This case report aims to provide a comprehensive overview of a 25-year-old male patient with CCD, highlighting the genetic etiologies, clinical presentation, radiological findings, and a review of current literature to enhance understanding and awareness of this rare condition.

The transposition of teeth is an infrequent dental abnormality characterized by the exchange of position between two adjacent teeth. This report presents a unique case of transposition involving the maxillary right canine and lateral incisor in a 20-year-old female patient. Clinical assessment and radiographic evaluation revealed the unconventional positioning of the affected teeth. Treatment planning necessitated collaborative efforts between orthodontic specialists to achieve optimal esthetic and functional outcomes. The patient underwent a comprehensive treatment regimen, including orthodontic alignment by distal drifting of the canine and mesial shifting of the lateral incisor. Subsequent long-term follow-ups confirmed stable occlusion and satisfactory esthetics in a time period of 18 months. This case underscores the significance of precise diagnosis and a multidisciplinary approach in managing intricate dental anomalies such as tooth transposition.

Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword \"Floating-Harbor syndrome\". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.

Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and molecular studies were performed. Patients were found to have congenital insensitivity to pain, self-mutilation, acro-osteolysis, cornea scars, reduced temperature sensation, tooth agenesis, root maldevelopment, and underdeveloped maxilla and mandible. The skin biopsies revealed fewer axons, decreased vimentin expression, and absent neurofilament expression, indicating lack of dermal nerves. Whole exome and Sanger sequencing identified a rare homozygous variant c.4039C>T; p.Arg1347Cys in the plakin domain of Plec, a cytolinker protein. This p.Arg1347Cys variant is in the spectrin repeat 9 region of the plakin domain, a region not previously found to harbor pathogenic missense variants in other plectinopathies. The substitution with a cysteine is expected to decrease the stability of the spectrin repeat 9 unit of the plakin domain. Whole mount in situ hybridization and an immunohistochemical study suggested that Plec is important for the development of maxilla and mandible, cornea, and distal phalanges. Additionally, the presence of dental anomalies in these patients further supports the potential involvement of Plec in tooth development. This is the first report showing the association between the Plec variant and congenital insensitivity to pain in humans.

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Aim This study aims to evaluate the non-morphological traits of the South Indian population. Introduction Dental morphological traits, also known as non-metric dental traits, exhibit variation in appearance both within and between groups. The study analyzed the non-metric traits among the South Indian population, as few variants can be grouped within the population.  Materials and methods A total of 500 extracted tooth samples were collected. The dental non-metric traits that were evaluated are the cusp of Carabelli (CC), Talon\'s cusp (TC), shoveled incisor (SI), peg-shaped lateral incisor (PL), protostylid (PR), Dryopithecus pattern groove (DP), hypoconulid (HY), parastyle (PA), multiple parastyle (MPA), paracone (PC), Bushman\'s canine (BC), interruption groove (IG), tuberculum dentale (TD), tuberculum intermedium (TI), radix entomolaris (RE), fusion (F), radiculous premolar (RP), dilaceration (D), dens evaginatus (DE), and enamel pearl (EP).  Results Out of 20 dental non-metric traits that were evaluated in the study, 14 traits were identified to be common within the population. The prevalence were as follows: cusp of Carabelli (52%), shoveled incisor (8.2%), peg-shaped lateral incisor (7.4%), parastyle (0.8%), multiple parastyle (0.2%), Bushman\'s canine (0.4%), interruption groove (2.2%), tuberculum intermedium (0.6%), radix entomolaris (39.6%), fusion (2.8%), radiculous premolar (0.2%), dilaceration (58.2%), dens evaginatus (1.2%), and enamel pearl (0.8%) among the South Indian population.  Conclusion The current study was discovered to have more Carabelli traits, shoveled incisors, radix entomolaris, and dilaceration than other non-metric features. This shows that these characteristics are more prevalent in the South Indian population, which could be one of the strategies used to validate human identification in a forensic context.

OBJECTIVE: To investigate the prevalence of tooth agenesis and associated dental anomalies in Latvian adolescent dental patients and compare it to other European countries.
METHODS: Cross-sectional study of 2692 11-to-14-year-old patients (39.9% males and 60.1% females) attending Riga Stradins University Institute of Stomatology with panoramic radiographs taken between August 2020 and September 2021. Patients with any genetic syndromes were excluded. Data on tooth agenesis (excluding third molars) and other dental anomalies were recorded.
RESULTS: The prevalence of tooth agenesis in Latvian adolescent dental patients was 9.3% with no statistically significant difference between genders (χ2 test, p = 0.472). The most commonly missing teeth were mandibular second premolars, followed by upper lateral incisors and upper second premolars. There was a statistically significant association with the presence of other dental anomalies in tooth agenesis patients (p < 0.001).
CONCLUSIONS: This study found that the prevalence of non-syndromic tooth agenesis in Latvian adolescent dental patients was 9.3% with no statistically significant differences between the genders. Patients with tooth agenesis have a statistically significant possibility of the presence of other dental anomalies (p < 0.001).

BACKGROUND: A lateral cephalogram is an essential diagnostic record for an orthodontist. It is used for diagnosis and treatment planning. This can be a prediction tool as well for developing anomalies of the skeletal, dental, and soft tissues of the head and neck. The sella turcica (ST), being a central landmark for cephalometric assessment, has great importance in itself as a diagnostic parameter to predict certain dental problems related to its bridging.
OBJECTIVE: 1. To assess and compare the shape, size, and bridging of ST in subjects of Taif with different skeletal classifications. 2. To find whether there is any association between dental anomalies and sella turcica bridging (STB).
METHODS: The study obtained ethical approval from the research ethics committee of Taif University with application no. 44-354 and with no. HAO-02-T-1 dated June 4, 2023. The study involved 87 study samples, divided as follows: a. Group 1: 49 control records. b. Group 2: 38 case records with STB.
RESULTS: The results of our study were promising in relation to STB and the occurrence of dental anomalies in both the case and the control with the frequencies of occurrence being 46.94% and 36.84%, respectively. It was found that the percentage of distribution was more among class I malocclusions and least in class III. It is imperative that impaction (13.8%) is the most associated anomaly, followed by ectopic eruption (11.5%). Supernumerary teeth and gemination were the least associated with STB, and only 1% of the cases showed an association. Statistically significant associations were found for all types of dental anomalies as a result of distribution among cases and controls.
CONCLUSIONS: Orthodontists commonly employ lateral cephalograms as a regular practice to aid in diagnosis and treatment planning. Furthermore, these cephalograms can serve as predictive tools for dental anomalies. Detecting skeletal abnormalities at an early stage can provide insight into the likelihood of future dental anomalies, enabling clinicians to implement preventive measures accordingly.

BACKGROUND: Craniofacial microsomia (CFM) and camel-hump condylo-mandibular dysplasia (CMD) are developmental disorders affecting the mandible that share common clinical features. This study aimed to investigate and compare the dental anomalies (DA) between the two entities for differential diagnosis and to propose appropriate treatment.
METHODS: This retrospective cross-sectional study was based on panoramic radiographs of patients diagnosed with CFM or CMD. DA were evaluated using the classification reported by Bilge. Delayed tooth eruption on the affected side was noted based on a comparison with the contralateral side. Nolla\'s stages of tooth calcification were used to assess dental development.
RESULTS: A total of 103 patients were included, 80 subjects (77.7 %) in CFM group and 23 patients (22.3 %) in CMD group. The prevalence of DA among CFM and CMD-affected patients were 80.0 % and 95.7 %, respectively. Tooth ectopia, tooth impaction, dental development delay, and delayed tooth eruption on the affected side exhibited a significant association with the two craniofacial malformations. The overall affected teeth (molars, premolars, canines) differed between the two craniofacial malformations. Dental abnormalities such as oligodontia, hyperdontia, dentin dysplasia, and anomalies of shape were seen only in subjects affected by CFM.
CONCLUSIONS: DA were widely observed in patients with CFM and CMD. The global distribution of affected teeth differed between the two conditions and some DA were detected only in CFM patients. When clinical diagnosis remains uncertain, some specific radiological characteristics of DA can be used to differentiate CFM from CMD.

OBJECTIVE: X-linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in matched controls undergoing similar orthodontic procedures.
METHODS: For this retrospective case-control study, we included all individuals less than 16 years old diagnosed with XLH, orthodontically treated in our centre from 2016 to 2022 and pair-matched them to patients with no chronic or genetic conditions. Clinical and radiological parameters concerning their malocclusion, craniofacial discrepancy and the characteristics and iatrogenic effects of their orthodontic treatment were analysed.
RESULTS: Fifteen XLH patients (mean age: 11.3 ± 2.1), pair-matched to 15 control patients were included. Orthodontic treatment was successfully conducted in XLH patients with slightly shorter duration and similar iatrogenic effects as in the control group, except for the occurrence of dental abscess during and after orthodontic tooth movement. XLH patients did not show more relapse than the controls.
CONCLUSIONS: Despite the presence of oral manifestations of XLH such as spontaneous abscesses, XLH patients can undergo orthodontic treatment with no obvious additional iatrogenic effects.