GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems have been reported over the years & contribute to the expanding spectrum of this evolving phenotype. We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.

Nephrotic syndrome is a chronic disorder characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Idiopathic minimal-change disease is the most common form encountered in children. Corticosteroids are the cornerstone for the treatment of idiopathic nephrotic syndrome (INS), with different regimens depending on the response to therapy and frequency of relapses. This case report presents complications after implant treatment in patient with INS.
20 years old female patient presented for implant consultation. Medical history includes INS since early childhood, and she is on different medications to control her condition, including long-term steroid use. Dental history revealed that implant treatment was unsuccessful after multiple attempts. She presented with an implant on the area of lower left first mandibular molar, that shows increased mobility and radiolucency on radiographic examination. A diagnosis of implant failure was made, the implant was removed, and the area was cleaned and sutured. The patient decided to replace her missing teeth with fixed partial denture and was referred for prosthodontist. The potential adverse effect of steroid use and the possible underlying mechanism that could affect bone metabolism and implants osseointegration are reviewed.
Clinical practice guidelines are needed for the management of dental implants in chronic steroid users.

The purposes of this case report are to describe the course of treatment for a 29-year-old woman with a chief complaint of spaces in her dentition and to review relevant clinical topics in the literature. The primary etiology of the spacing in this case was a congenitally missing maxillary right lateral incisor and a peg-shaped maxillary left lateral incisor. The clinical diagnosis included skeletal and dental discrepancies in all 3 planes of space; a skeletal and dental open bite; a high and asymmetric smile line with a skeletal occlusal cant; a Class II dental occlusion; a Class III skeletal tendency; and insufficient space for standard-size restoration of the maxillary lateral incisors. A history of poor oral hygiene, multiple restorations, and tooth wear were added challenges. The patient initially requested minimal esthetic procedures. However, during the course of treatment, she changed her treatment goals to achieve optimal esthetics. The case required a multidisciplinary planning approach. This report highlights treatment options, outcomes, and avoidable mistakes for this type of complex case involving high esthetic demands. Additionally, key factors are identified to achieve successful treatment and patient satisfaction.

Progressive familial intrahepatic cholestasis is a heterogeneous group of disorders, leading to intrahepatic cholestasis, with the possibility of chronic liver failure and biliary cirrhosis. Oligodontia is either the manifestation of a specific syndrome or is non-syndromic. To the best of our knowledge, this is the first case report of type 3 progressive familial intrahepatic cholestasis and concurrent oligodontia, craniosynostosis, dens in dente, taurodontism, and delayed permanent dentition in the medical and dental literature.
We present the dental and medical histories and comprehensive dental management of a girl with type 3 progressive familial intrahepatic cholestasis and several dental anomalies, who was referred to a dental clinic due to severe dental caries and pain.
Our findings suggest that PFIC with manifestations as oligodontia, craniosynostosis, dens in dente, taurodontism, and delayed permanent dentition, might indicate an unknown syndrome; otherwise, the craniofacial anomalies are the manifestations of an independent disease coinciding with PFIC. Moreover, our case is a good example of the importance of timely medical and dental care in confining further health-related complications. The patient was able to ingest without any pain or discomfort after receiving proper dental management.

The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
The systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis statement. We systematically searched PubMed, Web of Science, Scopus, Scielo, LILACS, EBSCOhost and Embase databases up to 6 January 2022. We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthopedic treatment to facilitate functional and aesthetic oral rehabilitation. The search was not restricted by language or year of publication. The quality of the studies was assessed using the Joanna Briggs Institute Quality Assessment Scale of the University of Adelaide for case series and case reports. The review was registered at the University of York Centre for reviews (CRD42021288030).
Of the initial 403 studies found, 29 met the inclusion criteria. After applying the quality scale, 23 were left for review-21 case reports and 2 case series. The initial age of patients ranged from 34 months to 24 years. Thirteen studies were on hypohidrotic and/or anhidrotic ectodermal dysplasia, of which two were X-chromosome linked. In one study, the patient had Wiktop syndrome, and in nine the type of ectodermal dysplasia was not specified. The duration of treatment was 7 weeks to 10 years. The treatments described were: fixed orthodontic appliances or simple acrylic plates designed for tooth movement, including leveling and aligning, closing of diastemata, retraction of impacted teeth in the dental arch; clear aligners; fixed and/or removable appliances for the correction of skeletal and/or dentoalveolar relationships; palatal expanders in combination with face masks for orthopedic traction of the maxilla; and orthognathic surgery. Only three studies provided cephalometric data.
The level of evidence of the articles reviewed was low and most orthopedic and dentofacial orthodontic treatments described were focused on correcting dental malpositioning and jaw asymmetries and not on stimulating growth from an early age. Studies with greater scientific evidence are needed to determine the best treatment for these patients.

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.

Dentists may encounter patients with numerical dental anomalies in clinical practice and understanding of these conditions would allow early detection as well as intervention. The absence of one or more teeth congenitally is referred as hypodontia. This dental anomaly is rarely reported in primary dentition and the most commonly affected teeth in the primary dentition are mandibular lateral incisors and primary canines are remarkably very rare and this entity has not been often reported. This case study was aimed to report a 3-year-old Indian girl with the absence of three canines primary dentition and also evaluate the overall dental development pattern of developing permanent teeth. Furthermore, a new finding for pediatric dentists that the development of permanent canines in case of missing primary canines.

OBJECTIVE: To systematically review the literature on the survival rate of deciduous molars in cases of agenesis of premolar successors.
METHODS: Four electronic databases and partial grey literature were searched up to November 2020. The PECOS eligibility criteria included (P) second deciduous molar (E) exposed to agenesis of a premolar successor (O) evaluated by the survival rate in the oral cavity, infraocclusion, and root resorption through (S) observational studies. Risk of bias (RoB) was assessed using the checklists from the Joanna Briggs Institute and the level of evidence was assessed using the GRADE (Grading of Recommendations, Assessment, Development and Evaluations) tool.
RESULTS: Three studies were included: one with low, one with moderate, and one with high RoB. Synthesis methods included the frequency of persistent deciduous second molars during the follow-up. Approximately 82% to 89% remained in the oral cavity after 5 to 13 years. The incidence of root resorption was 11%, and the infraocclusion was 1 mm. The level of evidence was considered low for each outcome. There was considerable RoB regarding the observational studies and a need for clinical and radiographic monitoring of the deciduous molars.
CONCLUSIONS: Maintaining a deciduous molar in the oral cavity in patients with agenesis of the premolar successor is a viable clinical choice since 82% to 89% of the retained molars evaluated were in good condition over a follow-up ranging from 5 to 13 years. Infraocclusion and root resorption did not seem to increase considerably. The level of evidence was considered low for each outcome.

Different genes and loci that are associated with non-syndromic developmental tooth agenesis (TA) have the same causation pathway in the development of tumours including breast cancer (BC), epithelial ovarian cancer (EOC), colorectal cancer (CRC) and lung cancer (LC).
To assess the link between TA and the development of cancer.
This registered review included a comprehensive search of electronic databases (Cochrane Central Register of Controlled Trials [CENTRAL], LILACS, Scopus, Web of Science and Medline via Ovid) until 1 April 2020, supplemented by manual, grey literature and reference lists search. There was no restriction in term of date of publication, gender, race or type of hypodontia.
The primary outcome was the relationship between TA and cancer. The secondary outcome was to identify the genetic correlation between TA and cancer.
Study selection, data extraction and risk of bias assessment were performed independently and induplicate by two reviewers, with disputes resolved by a third reviewer.
Eight studies with a moderate-high risk of bias were included in the final review, with a total of 5821 participants. Due to the heterogeneity among the included studies, the data were presented narratively. Limited studies reported a high prevalence of EOC (19.2%-20%) and CRC (82%-100%) in individuals with TA (depending on the study) compared to those without TA (3% for EOC and 0% for CRC). While others reported a weak correlation between EOC and CRC and TA (P > 0.05). Weak evidence suggested a strong correlation between breast, cervical uterine and prostate cancers and TA (P < 0.05).
Though low-quality evidence suggests a link between TA and cancer, it was not possible to verify that TA can hold a predictive value as a marker for cancers. Further research is needed to confirm the association.
PROSPERO (CRD42020139751).

Congenital absence of the teeth, affecting both physiognomy and mastication, can have a great impact on patients\' quality of life. It may appear unilateral or bilateral; frequently, it associates with certain general conditions. Familial hypodontia in clinically healthy patients is rare. Genetic transmission, as a determinant factor in missing teeth, can be autosomal dominant, recessive, or related to the sex chromosomes. In case of congenitally missing permanent teeth, the corresponding deciduous teeth can be still found on the arch at adult age. The aim of this article is to present rare cases of familial non-syndromic unilateral and bilateral hypodontia in Romanian adult siblings, highlighting also a cross gene transmission between aunt and niece and evaluating the treatment options in accordance with patient\'s age and oral status. It shows that early diagnosis of hypodontia is crucial for the patient\'s future oral health. The decision to keep the temporary teeth or to extract them is influenced by the presence and status of the deciduous teeth, patient\'s access to treatment and parent\'s agreement. Asymptomatic adult patients, in which hypodontia was diagnosed during a routine control, do not usually solicit therapeutic intervention until the deciduous teeth are also lost; still, in situations where complications arise through their loss, the treatment of hypodontia is complex, involving a close collaboration between a team of specialists. The article also includes a detailed review of literature referring to the prevalence of hypodontia among different populations.