Enamel hypoplasia is an exclusive ectodermal disturbance, related to alterations in the organic enamel matrix which can cause white flecks, narrow horizontal bands, lines of pits, grooves, and discoloration of the teeth. It can result in compromised oral health that causes physiological and psychological disturbances. Management of enamel hypoplasia not only includes esthetic and functional rehabilitation of the patient but also requires a positive rapport building with the patient due to psychosocial issues. The present case reports elucidate step-by-step management of 16-year-old female patient who presented with localized enamel hypoplasia with severely decayed anterior teeth, poor dental esthetics, and oligodontia of the lower teeth.

Dental agenesis is one of the most common developmental anomalies in humans and it is frequently associated with several other oral abnormalities. The present case describes non-familial agenesis of permanent teeth in a twenty-one-year-old boy with no apparent systemic abnormalities. The treatment included a personalized and interdisciplinary approach involving endodontics, orthodontics, implant-supported restorations and prosthetic treatments. The treatment plan was thoroughly elaborated using photographic analysis, study models, orthopantomogram, CBCT and cephalograms. Virtual smile design, diagnostic waxing and mock-ups previsualized the treatment objectives. The edentulous spaces were reconstructed by inserting dental implants and monolithic zirconia implant-supported restorations. The final results showed a highly esthetic and functional rehabilitation. Periodic check-ups have shown that the stability of the result is well maintained and that the implant-supported restorations are an optimal solution for patients with multiple anodontia.

The patient presented in this case report is a 10-year-old boy with hyperdivergent skeletal Class II associated with familial genetic agenesis of the second premolars. The treatment plan chosen was to close the spaces of agenesis using a bimaxillary appliance fixed buccally. The advantages and disadvantages of this treatment option were discussed. The result was stable and made it possible to avoid an implant-prosthetic solution, which would undoubtedly have been more restrictive over time.

OBJECTIVE: To investigate the role of Keratinocyte Differentiation Factor 1 (KDF1) in ectodermal dysplasia (ED) and nonsyndromic tooth agenesis (NSTA) and perform a literature review.
METHODS: Genome sequencing was used to identify genetic variants in a Thai, NSTA proband and validated through Sanger sequencing. Pathogenicity was assessed using ACMG guidelines, MetaRNN and AlphaMissense. A comprehensive review of KDF1/NSTA cases informed genotype-phenotype analysis of the proband.
RESULTS: The proband revealed multiple missing teeth, caries and extensive periodontal disease. Deep phenotyping showed no signs of ED beyond tooth agenesis. The identified novel KDF1 variant, p.Ile243Leu, was classified as \'likely pathogenic\' by ACMG and predicted as \'detrimental\' by MetaRNN and AlphaMissense analyses. A total of 14 reviewed KDF1 cases revealed ED-associated variants (3 variants in 8 patients) clustering in the region of amino acids 251-275, within the DUF4656 domain, while NSTA-causing variants (4 variants in 6 patients) were typically found in amino- or carboxy-termini to this region. KDF1/NSTA cases exhibited an average of 15 missing teeth, with a higher prevalence in the mandible.
CONCLUSIONS: This study identifies a novel KDF1 variant-related NSTA in Thai people. The genotype-phenotype correlates suggest a distinctive pattern and tooth agenesis of KDF1-related NSTA.

Background: The risk of palatally displaced canines (PDCs) rises in patients with tooth agenesis. The orthodontic extrusion and alignment of PDCs require adequate anchorage to enable tooth movement and control the side effects. There is no paper presenting treatment in the case of severe oligodontia with simultaneous PDCs and the use of mini-implants (MIs) for their orthodontic extrusion. Case presentation: A 15-year-old patient presented with non-syndromic oligodontia and bilateral PDCs. Cone beam computed tomography revealed that both PDCs were in proximity to the upper incisors\' roots. There was no evident external root resorption of the incisors. The \"canines first\" approach was chosen. MIs were used both as direct and indirect anchorage. First, the extrusive forces of cantilevers were directed both occlusally and distally. Next, the buccal directions of forces were implemented. Finally, fixed appliances were used. PDCs were extruded, aligned, and torqued. Proper alignment and occlusion were achieved to enable further prosthodontic restorations. Conclusions: The use of MIs made it possible to avoid collateral effects, reduce the risk of complications, and treat the patient effectively. MIs provide adequate anchorage in demanding cases. The use of MIs for the extrusion of PDCs made it possible to offer this treatment option to patients with severe oligodontia. The presented protocol was effective and served to circumvent treatment limitations associated with an inadequate amount of dental anchorage and a high risk of root resorption.

The congenital absence of teeth is the most common dental anomaly affecting 2.2% to 10% of the population. It could be present in the form of anodontia, hypodontia, or oligodontia, excluding wisdom teeth. Oligodontia is most commonly associated with several syndromes like ectodermal dysplasia, Down syndrome, and Van der Woude syndrome that involve the mutation of the MSX-1 and PAX-1 genes. Few cases have been reported in the literature on how oligodontia affects primary dentition. In this case report, a total of 17 primary teeth were missing. This case report investigates whether the features of non-syndromic oligodontia are present in the primary dentition in a two-year-old boy.

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

OBJECTIVE: The congenital oligodontia impeding the development of the alveolar process resulting in disproportionate jaw growth has been previously reported. This case report describes the interdisciplinary management of an 11-year-old girl with Axenfeld-Rieger syndrome exhibiting oligodontia and maxillary hypoplasia.
RESULTS: An adjunctive orthodontic therapy was performed by taking advantage of bone-anchored maxillary protraction (BAMP) therapy using miniplates and 24-hour traction by intermaxillary Class III elastics. After 6 months of active treatment, the maxilla advanced by approximately 5 mm and upper lip relation improved by 3 mm without any significant changes in vertical relations. All the changes were maintained at 15th-month follow-up. A temporary removable prosthesis was given for immediate esthetics, and the definitive management is discussed.
CONCLUSIONS: The BAMP therapy can be a befitting alternative in cases exhibiting complex presentation involving skeletal and dentoalveolar components. An appreciable profile improvement without any dentoalveolar side effects can be achieved with BAMP therapy.

Axenfeld-Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present a case of a 10-year-old boy. Its awareness among oral surgeons is essential for timely diagnosis and subsequent prevention of ophthalmic and systemic complications as craniofacial and dental features constitute the early recognizable symptoms of this syndrome. Systematic ophthalmic surgeries aid in relieving vision abnormalities, while symptomatic dental treatment should be provided for masticatory and esthetic rehabilitation.

Ectodermal dysplasia (ED) is a congenital disorder primarily affecting the ectodermal tissue, with infrequent dysfunction of mesodermally derived tissues. Clinically, there are two major forms seen, hypohidrotic/Christ-Siemens-Touraine syndrome and hidrotic/Clouston syndrome, depending on the number and function of sweat glands. A multidisciplinary treatment protocol is usually followed and necessitates collective efforts by medical and dental professionals. Dental intervention should be done as early as possible to ameliorate the patient\'s esthetics and enhance the emotional and psychological quotient in these patients. This case report aims to highlight a rare and interesting report of hypohidrotic ED in a young female patient with a possible autosomal recessive inheritance pattern.