scholarly journals Oral findings in patients with Apert Syndrome

2006 ◽  
Vol 14 (6) ◽  
pp. 465-469 ◽  
Author(s):  
Gisele da Silva Dalben ◽  
Lucimara Teixeira das Neves ◽  
Marcia Ribeiro Gomide
Keyword(s):  
Apert Syndrome ◽  
Radiographic Examination ◽  
Class Iii ◽  
Dental Anomalies ◽  
Ectopic Eruption ◽  
Fgfr2 Gene ◽  
High Prevalence ◽  
Ocular Hypertelorism ◽  
Tissue Alterations ◽  
Etiologic Relationship

INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

scholarly journals RADIOGRAPHIC INVESTIGATION OF DENTAL ANOMALIES IN LIBYAN ORTHODONTIC PATIENTS

2015 ◽  
Vol 5 ◽  
Author(s):  
Iman Abdelgader ◽  
Tyisir Gnaiber ◽  
Kadija Emnina ◽  
Sulieman Orofi
Keyword(s):  
Class Ii ◽  
Incidence Rates ◽  
Division I ◽  
Class I ◽  
Class Iii ◽  
Dental Anomalies ◽  
Dental Anomaly ◽  
Ectopic Eruption ◽  
Orthodontic Patients ◽  
Male Subjects

Aim: The purpose of this study was to evaluate the prevalence of dental anomalies in different Libyan orthodontic malocclusions.Materials and Methods: Pretreatment orthodontic records of 252 Subjects (57 Males and 195 Females) were classified as Class I (159), Class II Division I (66), Class II Division II (8) and Class III (19). The incidence rates of specific dental anomalies were investigated and analyzed to study the differences of rates of each anomaly according to sex and malocclusion using descriptive analysisResult: It was found that (53.5%) of the patients had at least one dental anomaly in this study. ectopic eruption was the most prevalent dental anomaly (34.9%) followed by thin pipette-shaped roots and short blunt root (30.1%, 24.2%) respectively.Conclusions: Male subjects showed more ectopic eruption and short blunt root then female, Class I malocclusion had the most prevalent dental anomalies compared to the other malocclusion groups.

scholarly journals Apert syndrome: a case report

2015 ◽  
Vol 04 (03) ◽  
pp. 145-148
Author(s):  
Barman A. ◽  
Dutta BC ◽  
Sarkar JK
Keyword(s):  
Rare Condition ◽  
Open Bite ◽  
Apert Syndrome ◽  
Anterior Open Bite ◽  
Maxillary Hypoplasia ◽  
X Ray ◽  
Fgfr2 Gene ◽  
History Of ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births. A three year old boy was brought with a history of facial, hand and feet deformities to the Pediatrics out patient department. On examination, he had symmetric syndactyly of the hands and feet. He also had craniosynostosis with deformed skull. This patient also exhibited midface hypoplasia, exophthahnia, ocular hypertelorism and high arch palate. Crowding of the teeth, malocclusion with anterior open bite is also found. The X-ray of the hand and feet showed skeletal fusion of phalanges (complex syndactyly). The case represents a rare condition where there is a mutation in the FGFR2 gene causing Apert syndrome.

scholarly journals Prevalence of Dental Anomalies in Saudi Orthodontic Patients

2013 ◽  
Vol 14 (4) ◽  
pp. 724-730 ◽  
Author(s):  
Aljazi H Al-Jabaa ◽  
Abdullah M Aldrees
Keyword(s):  
General Population ◽  
Random Sample ◽  
Clinical Significance ◽  
Orthodontic Treatment ◽  
Class Iii ◽  
Dental Anomalies ◽  
Significant Relation ◽  
Ectopic Eruption ◽  
Different Types ◽  
Orthodontic Patients

ABSTRACT Aim This study aimed to investigate the prevalence of dental anomalies and study the association of these anomalies with different types of malocclusion in a random sample of Saudi orthodontic patients. Materials and methods Six hundred and two randomly selected pretreatment records including orthopantomographs (OPG), and study models were evaluated. The molar relationship was determined using pretreatment study models, and OPG were examined to investigate the prevalence of dental anomalies among the sample. Results The most common types of the investigated anomalies were: impaction followed by hypodontia, microdontia, macrodontia, ectopic eruption and supernumerary. No statistical significant correlations were observed between sex and dental anomalies. Dental anomalies were more commonly found in class I followed by asymmetric molar relation, then class II and finally class III molar relation. No malocclusion group had a statistically significant relation with any individual dental anomaly Conclusion The prevalence of dental anomalies among Saudi orthodontic patients was higher than the general population. Clinical significance Although, orthodontic patients have been reported to have high rates of dental anomalies, orthodontists often fail to consider this. If not detected, dental anomalies can complicate dental and orthodontic treatment; therefore, their presence should be carefully investigated during orthodontic diagnosis and considered during treatment planning. How to cite this article Al-Jabaa AH, Aldrees AM. Prevalence of Dental Anomalies in Saudi Orthodontic Patients. J Contemp Dent Pract 2013;14(4):724-730.

Secondary Dentition Characteristics in Children With Nonsyndromic Unilateral Cleft Lip and Palate

2018 ◽  
Vol 55 (4) ◽  
pp. 582-589 ◽  
Author(s):  
Elaine Li Yen Tan ◽  
Meaw Charm Kuek ◽  
Hung Chew Wong ◽  
Serene Ai Kiang Ong ◽  
Mimi Yow
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Permanent Teeth ◽  
Tooth Size ◽  
Dental Anomalies ◽  
Supernumerary Teeth ◽  
High Prevalence ◽  
Dental Records ◽  
Congenitally Missing ◽  
Maxillary Region

Objective: Children with cleft lip and palate are reported to be commonly associated with higher prevalence of dental anomalies such as hypodontia, supernumeraries, and abnormalities in tooth size, shape, and position. This study investigated the prevalence of dental anomalies in a longitudinal cohort of children with unilateral cleft lip and palate (UCLP). Design: The study was a retrospective analysis of radiographs, study models, and treatment notes. Patients: Sixty patients with repaired UCLP aged 13 years old with complete dental records dating from 5 years of age were included. Methods: Study casts, dental panoramic, anterior maxillary occlusal, and periapical radiographs of the patients were examined for cleft-sidedness, congenitally missing permanent teeth, supernumerary teeth, microdontic, and macrodontic teeth in the anterior maxillary region, presence of malformed permanent cleft-sided lateral incisor and its morphology (peg-shaped, conical shaped, canine-formed), positions of the permanent lateral incisors relative to the cleft side and presence of rotated cleft-sided central incisors. Results: Of the 60 patients studied, 63.3% had hypodontia, 21.7% had supernumerary teeth, 69.6% had microdontia, and 12.5% had macrodontia. All of the cleft-sided permanent lateral incisors had associated anomalies, with a large proportion (43.1%) missing; and when present in 31 subjects, the majority (90.3%) was positioned distal to the cleft. Most of the cleft-sided permanent central incisors were rotated if present, and prevalent at 86.7%. Conclusion: A high prevalence of dental anomalies was observed in this sample of children with UCLP.

The prevalence and management of patients with hypodontia: A cross -sectional study

2021 ◽  
pp. 146531252110654
Author(s):  
Nusaybah Elsherif ◽  
Jose Rodriguez ◽  
Farooq Ahmed
Keyword(s):  
Orthodontic Treatment ◽  
Negative Impact ◽  
Cross Sectional Study ◽  
Class I ◽  
Class Iii ◽  
Dental Anomalies ◽  
Missing Teeth ◽  
Cross Sectional ◽  
Related Quality ◽  
Pre Treatment

Background: Hypodontia is one of the most common anomalies in dentistry. Hypodontia has a negative impact on oral health-related quality of life with patients best seen in a multidisciplinary clinic to improve treatment outcomes. Aim: To investigate the prevalence of hypodontia and its association with other dental anomalies, as well as malocclusion, and to investigate the treatment planned for patients attending the clinic and whether the type of missing teeth affected the proposed treatment. Materials and Methods: Analysis of consecutive patients attending the hypodontia clinic at a dental hospital between February and November 2020. A total of 100 patients who met the inclusion criteria were identified. Data collected included the following: age/sex; number and type of missing teeth; pre-treatment occlusion; presence of other dental anomalies; and planned treatment. Results: A total of 100 patients (55% female; age range = 7–41 years; mean age = 18 years) were included. Of the cohort, 47% had a class I skeletal relationship and participants were significantly less likely to have a class III skeletal or incisor relationship; 45% had another dental anomaly with the most common being microdontia. Space opening was the preferred treatment option for those managed by orthodontic treatment with resin-bonded bridges most likely to be used for restoration of spaces, 86%. Conclusion: Lower second premolars were the most commonly missing teeth. Participants were significantly less likely to have a class III incisor or skeletal relationship than class I or II. Space opening was the favoured approach for orthodontic treatment, particularly for maxillary lateral incisors.

scholarly journals Correction of severe facial asymmetry: A case with fractured condyle

2019 ◽  
Vol 9 ◽  
pp. 59-64
Author(s):  
Ramesh Agrawal ◽  
Dolly P. Patel ◽  
Bhagyashree B. Desai
Keyword(s):  
Facial Asymmetry ◽  
Post Treatment ◽  
Radiographic Examination ◽  
Rigid Fixation ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
History Of ◽  
Condylar Head ◽  
The Stability ◽  
The Right

The current paper depicts the challenges faced during the treatment of a complicated case of mandibular condylar head fracture, facial asymmetry, and centric relation-centric occlusion (CR-CO) discrepancy along with Class III malocclusion. A 20-year-old female reported with the chief complaint of difficulty in chewing and concern with her appearance due to deviated jaw and had a history of trauma over chin region. The clinical and radiographic examination revealed significant facial asymmetry with long face, right-sided deviation of the mandible, fractured condyle, CR-CO discrepancy, cross- bite with Class III malocclusion, and a missing mandibular single incisor along with non-vital 21 and 22. She was treated with 0.022 MBT appliance along with guiding plane for CR-CO correction followed by asymmetric bilateral sagittal split osteotomy and differential set back on the right and left sides and finally rigid fixation. A good facial profile and functional occlusion were achieved and non-vital 21 and 22 were esthetically rehabilitated with PFM crowns. The stability of surgical as well as orthodontic corrections was excellent and appreciable in the records obtained 2-year post-treatment. When faced with mutilated malocclusion, with multiple problems, sequential correction of functional malocclusion with dental decompensation followed by skeletal correction with surgical approach has yielded a appreciable facial correction with good stability showing 2-year post-treatment follow-up.

scholarly journals Acne Syndromes and Mosaicism

Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1735
Author(s):  
Sumer Baroud ◽  
Jim Wu ◽  
Christos C. Zouboulis
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Somatic Mosaicism ◽  
Apert Syndrome ◽  
Adrenal Hyperplasia ◽  
Inflammatory Signaling ◽  
Autoinflammatory Syndromes ◽  
Fgfr2 Gene ◽  
Cutaneous Mosaicism ◽  
Inflammatory Changes ◽  
Ovarian Syndrome

Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the FGFR2 gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.

scholarly journals Relationship between skeletal malocclusion and dental anomalies in Nepalese population

2019 ◽  
Vol 9 (1) ◽  
pp. 15-18
Author(s):  
Bashu Dev Pant ◽  
Anjana Rajbhandari ◽  
Resina Pradhan ◽  
Manju Bajracharya
Keyword(s):  
Third Molar ◽  
Class Ii ◽  
Class I ◽  
Class Ii Malocclusion ◽  
Class Iii ◽  
Dental Anomalies ◽  
Chi Square ◽  
Skeletal Class ◽  
Skeletal Malocclusion ◽  
Third Molar Agenesis

Introduction: Teeth eruption is important for the development of alveolar process which increases vertical height of the face and third molar is the last tooth to erupt in the oral cavity after birth. The aim of this study was to determine relationship between skeletal malocclusion and dental anomalies in Nepalese population. Materials & Method: A sample of 170 patients with agenesis of at least one third molar was divided into four groups according to the third-molar agenesis pattern. Panoramic radiographs, lateral cephalograph and cast models were used to determine the skeletal malocclusion and associated dental anomalies. The Pearson chi-square test was used for stastical analysis. Result: Among 170 patients more than half of the patients were female with the average age being 18.15 ± 3.64 years. Majority of the patients had Class I skeletal malocclusion followed by Class II and III but on group wise comparison of patients with different skeletal patterns Class I skeletal malocclusion had highest prevalence of dental anomalies followed by Class III and Class II malocclusion. Conclusion: Prevalence of third-molar agenesis was more in skeletal class I malocclusion followed by class II and III but skeletal Class I malocclusions had more dental anomalies followed by class III and class II malocclusion.

Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation

2019 ◽  
Vol 87 (6) ◽  
pp. 469-470
Author(s):  
Manisha Goyal ◽  
Ashok Gupta ◽  
Seema Kapoor ◽  
Anu Bhandari
Keyword(s):  
Gene Mutation ◽  
Apert Syndrome ◽  
Preaxial Polydactyly ◽  
Fgfr2 Gene
Sign in / Sign up

Export Citation Format

Share Document