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Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L Gallo, Noam Shomron, Ralf Paus, Eli Sprecher
Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, we identified 2 frameshift and 2 missense mutations in TSPEAR segregating with the disease phenotype in 3 families. TSPEAR encodes the thrombospondin-type laminin G domain and EAR repeats (TSPEAR) protein, whose function is poorly understood...
October 2016: PLoS Genetics
Osmar Aparecido Cuoghi, Francielle Topolski, Lorraine Perciliano de Faria, Carla Machado Occhiena, Nancy Dos Santos Pinto Ferreira, Camila Ribeiro Ferlin, Marcos Rogério de Mendonça
OBJECTIVE: The aim of this study was to evaluate the incidence of dental anomalies in the permanent dentition of individuals with Down Syndrome (DS) to increase the knowledge on the dental issues in this syndrome. METHOD: One hundred and five panoramic X-rays of patients with DS (61 males and 44 females), aged 7 to 42 years were used. The data were statistically analyzed using bivariate analyses test (p <0.05). RESULTS: Dental anomalies were observed in 50...
2016: Open Dentistry Journal
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep
Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association.
September 2016: Indian Dermatology Online Journal
M O'Keeffe, J M Collins, S J Cunningham
INTRODUCTION: This study evaluated patients' experiences of the Hypodontia Care Pathway at a large teaching hospital at key stages: specifically patient expectations/experience following the diagnosis of hypodontia and then patient satisfaction with the orthodontic care received and the outcome at the end of active orthodontic treatment. METHODOLOGY: In-depth, semi-structured interviews were conducted with 20 hypodontia patients following completion of orthodontic treatment but prior to any planned prosthodontic treatment commencing...
October 5, 2016: Journal of Orthodontics
Christina L Hvaring, Bjørn Øgaard, Kari Birkeland
INTRODUCTION: Children with severe hypodontia have a substantial impairment of their dental health starting early in life. The purpose of this study was to describe types and locations of substitutes for missing teeth in patients with severe hypodontia and to compare the crown and soft tissue morphologies of orthodontic space closure, dental implants, and tooth-supported fixed dental prostheses for replacing teeth in the anterior region. METHODS: Fifty patients missing 6 or more teeth and aged 18 years or older (mean age, 25...
October 2016: American Journal of Orthodontics and Dentofacial Orthopedics
Strahinja Vucic, Brunilda Dhamo, Mette A R Kuijpers, Vincent W V Jaddoe, Albert Hofman, Eppo B Wolvius, Edwin M Ongkosuwito
INTRODUCTION: The aim of our study was to evaluate the craniofacial characteristics of children with mild hypodontia using conventional and principal component (PC) analysis. METHODS: We used radiographic images of 124 children (8-12 years old) with up to 4 missing teeth (55 boys, 69 girls) and of 676 reference children (365 boys, 311 girls) from the Rotterdam Generation R Study and the Nijmegen Growth Study in The Netherlands. Fifteen cephalometric measurements of children with hypodontia were compared with those of the reference children...
October 2016: American Journal of Orthodontics and Dentofacial Orthopedics
Adepitan A Owosho, Paul Brady, Suzanne L Wolden, Leonard H Wexler, Cristina R Antonescu, Joseph M Huryn, Cherry L Estilo
Dentofacial developmental abnormalities have been reported in head and neck rhabdomyosarcoma (HNRMS) patients treated with conventional radiotherapy technique and chemotherapy. This current study investigates dentofacial long-term effects among HNRMS survivors managed with intensity-modulated radiotherapy (IMRT) and chemotherapy. In general, IMRT is a more effective 3D-conformal radiotherapy technique, which delivers high doses of radiation to the tumor target while minimizing doses received by the surrounding normal tissues...
September 30, 2016: Pediatric Hematology and Oncology
Berna Gokkaya, Betul Kargul
OBJECTIVE: The aim of this study was to assess the prevalence and pattern of congenital missing teeth in the permanent dentition (excluding wisdom teeth), among Turkish children in a 4-year period (2009-2012). METHODS: The study group comprised 1658 children (873 girls, 785 boys). The children were examined in Department of Pediatric Dentistry, Dental School of Marmara University. A chi square test was used to determine the difference in the prevalence of hypodontia between genders...
March 2016: Acta Stomatologica Croatica
Alessandro Salvi, Edoardo Giacopuzzi, Elena Bardellini, Francesca Amadori, Lia Ferrari, Giuseppina De Petro, Giuseppe Borsani, Alessandra Majorana
Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects...
September 19, 2016: International Journal of Molecular Medicine
Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
2016: Journal of Contemporary Dental Practice
Allison M Jay, Robert L Conway, Isabelle Thiffault, Carol Saunders, Emily Farrow, John Adams, Helga V Toriello
Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare condition with fewer than 40 patients reported in the literature. Characteristic physical findings include neonatal progeroid appearance, sparse scalp hair, prominent scalp veins, and lipoatrophy; in addition, neonatal teeth are often a distinctive finding. The inheritance pattern of this disorder has been postulated to be autosomal recessive, although a specific gene has not been identified. Here we report an infant with the characteristic phenotypic features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c...
September 9, 2016: American Journal of Medical Genetics. Part A
Farhin Ali Katge, Bhavesh Dahyabhai Rusawat, Pooja Ravindra Shivasharan, Devendra Pandurang Patil
Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis...
September 2016: Journal of Dentistry
Rezvan Rafatjoo, Amene Taghdisi Kashani
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. But in our case, there was a mutation in the body cells due to incontinentia pigmenti. The dermatological findings occur in four successive phases. We report the case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up...
September 2016: Journal of Dentistry
Khaled Khalaf
OBJECTIVES: To compare tooth size between subjects with mild, moderate and severe hypodontia and a control group. MATERIAL AND METHODS: The study comprised 120 patients with hypodontia divided into three groups of 40 mild (≤2 teeth congenitally missing), 40 moderate (3-5 teeth congenitally missing) and 40 severe (≥6 teeth congenitally missing) hypodontia; and 40 age and sex matched controls. Tooth size was recorded by measuring the mesiodistal and buccolingual dimensions of all fully erupted teeth on study models using digital callipers and compared between all hypodontia and control groups using Two-way ANOVA and Post Hoc Tests of subgroup comparison...
2016: Open Dentistry Journal
Mamun Khan Sujon, Mohammad Khursheed Alam, Shaifulizan Abdul Rahman
The aim of this study was to investigate the prevalence of third molar agenesis and other associated dental anomalies in Bangladeshi population and to investigate the relationship of other dental anomalies with the third molar presence/agenesis. A retrospective study was performed using panoramic radiographs of 5923 patients, who ranged in age from 10 to 50 years. All radiographs were analyzed by Planmeca Romexis® 3.0 software (Planmeca Oy, Helsinki, Finland). Pearson chi-square and one way ANOVA (Post Hoc) test were conducted...
2016: PloS One
Vishal Gupta, Himabindu Saginatham, Sudheer Arava, Gomathy Sethuraman
An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and 'lobster-claw deformity' affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1-3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy...
2016: BMJ Case Reports
Barbro Malmgren, Kristofer Andersson, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Vasilios Zachariadis, Göran Dahllöf, Eva Åström
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. SUBJECTS AND METHODS: In this cohort study 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI), and congenitally missing teeth...
August 11, 2016: Oral Diseases
P Finbarr Allen, Samuel Lee, Paul Brady
BACKGROUND: Hypodontia compromises appearance and function and is challenging to manage clinically. OBJECTIVES: To assess the impact of implant retained crowns on quality of life of patients and to determine clinical performance of implant retained crowns in these patients. METHODS: In a 24-month prospective observation study, patients with non-syndromic mild hypodontia manifested with missing teeth in the anterior maxilla were included. Pre-treatment screening included a clinical and radiographic examination and completion of an OHIP-20...
August 8, 2016: Clinical Oral Implants Research
Jinjie Xue, Qingping Gao, Yanru Huang, Xiaoyu Zhang, Pu Yang, David S Cram, Desheng Liang, Lingqian Wu
BACKGROUND: Tooth agenesis is a common developmental dental anomaly. The aim of the study was to identify the causal genetic mutation in a four-generation Chinese family affected with non-syndromic autosomal dominant tooth agenesis. METHODS: Genome-wide scanning was performed using the Illumina Linkage-12 array. Genotyping of short tandem repeat markers was used to finely map the causative locus. Haplotype analysis and Sanger sequencing was performed to precisely locate the position and nature of the gene defect...
October 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Nandakumar Janakiraman, Hamed Vaziri, Kamran Safavi, Ravindra Nanda, Flavio Uribe
Transmigrated mandibular canines increase the treatment complexity in terms of both anchorage and biomechanical planning. Additionally, a Class II malocclusion with a deep overbite and associated dental anomalies such as hypodontia can further increase the treatment complexity and the overall treatment time. This case report describes the successful interdisciplinary treatment of a patient, aged 12.5 years, with transmigrated and severely impacted mandibular canines and congenitally missing mandibular second premolars...
August 2016: American Journal of Orthodontics and Dentofacial Orthopedics
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