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Sample records for anodontia

  1. Ectodermal dysplasia with true anodontia

    Directory of Open Access Journals (Sweden)

    Madhu Bala

    2011-01-01

    Full Text Available The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of two or more ectodermally derived structures. The most commonly observed forms of ectodermal dysplasia are the hidrotic and hypohidrotic types; discrimination is based on the absence or presence of sweat glands. A case of 8-year-old male child with hypohidrotic ectodermal dysplasia with complete anodontia of primary as well as secondary dentitions is presented. The child had a short stature, low intelligent quotient (I.Q.,, and was underweight. The patient experienced episodes of high fever, was intolerant to heat, and did not sweat. He exhibited smooth and dry skin, sparse light-colored eyebrows. Dental clinicians can be the first to diagnose ectodermal dysplasia due to the absence of teeth.

  2. Prosthetic rehabilitation of a child suffering from hypohidrotic ectodermal dysplasia with complete anodontia.

    Science.gov (United States)

    Bala, Shashi; Nikhil, M; Chugh, Anshul; Narwal, Anjali

    2012-05-01

    A 7-year-old male, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems. The treatment to improve his appearance and oral function included a removable prosthesis. The results were significant improvements in speech, masticatory function, and facial esthetics, contributing to the development of normal dietary habits, and the improved and more rapid social integration of the child. How to cite this article: Bala S, Nikhil M, Chugh A, Narwal A. Prosthetic Rehabilitation of a Child Suffering from Hypohidrotic Ectodermal Dysplasia with Complete Anodontia. Int J Clin Pediatr Dent 2012;5(2):148-150. PMID:25206157

  3. Early functional, esthetic, and psychological rehabilitation of preschool child with nonsyndromic oligodontia and anodontia in mixed dentition stage through conservative systematic approach: A case report with 5-year follow-up

    Science.gov (United States)

    Rathee, Manu; Malik, Poonam; Dua, Madhuri; Yadav, Vikas

    2016-01-01

    Missing teeth are a common developmental abnormality in humans. It may manifest as absence of varying numbers of primary and/or secondary teeth. Early treatment and follow-up are the key to successful rehabilitation of young patients with congenitally missing teeth. It is critical that oral rehabilitation is started early to maintain and correct the oral functions. Mucosa borne removable prostheses are the commonly selected treatment options for the young patients who present with oligodontia or anodontia. This clinical report describes esthetic, functional, and psychological rehabilitation of a young boy with severe oligodontia in maxillary arch and anodontia in mandibular arch. The individualized conservative graded approach in prosthetic rehabilitation with removable acrylic prosthesis helped to achieve esthetics, functionality, and psychological benefits. PMID:27307674

  4. Early functional, esthetic, and psychological rehabilitation of preschool child with nonsyndromic oligodontia and anodontia in mixed dentition stage through conservative systematic approach: A case report with 5-year follow-up

    Directory of Open Access Journals (Sweden)

    Manu Rathee

    2016-01-01

    Full Text Available Missing teeth are a common developmental abnormality in humans. It may manifest as absence of varying numbers of primary and/or secondary teeth. Early treatment and follow-up are the key to successful rehabilitation of young patients with congenitally missing teeth. It is critical that oral rehabilitation is started early to maintain and correct the oral functions. Mucosa borne removable prostheses are the commonly selected treatment options for the young patients who present with oligodontia or anodontia. This clinical report describes esthetic, functional, and psychological rehabilitation of a young boy with severe oligodontia in maxillary arch and anodontia in mandibular arch. The individualized conservative graded approach in prosthetic rehabilitation with removable acrylic prosthesis helped to achieve esthetics, functionality, and psychological benefits.

  5. 单个后牙缺失伴远端基牙倾斜的树脂黏结固定桥修复研究%Restoration of single posterior tooth anodontia accompanied tilted distal abutment with resin bonded fixed partial denture

    Institute of Scientific and Technical Information of China (English)

    宁江海; 高飞; 王燕一; 侯康林

    2009-01-01

    目的 观察树脂黏结固定桥(RBFPD)修复下颌单个后牙缺失合并桥基牙倾斜患者的临床效果,并总结其适应证和设计特点.方法 选择2002-2003年在解放军总医院口腔科就诊的典型下颌单个后牙缺失、远端基牙近中倾斜的患者18例,所有患者基牙倾斜度不超过50°,基牙无明显松动,牙周无异常.根据基牙倾斜和模型观测结果,设计(牙合)支托和固位体的位置和形态,义齿选择普通钛合金烤瓷或钻铬合金烤瓷修复,并在修复体完成后进行5年随访.随访时进行临床检查、X线片检查并询问患者主观感受.结果 远端倾斜基牙平均倾斜33°.随访5年后,2例修复病例修复体脱落,其余义齿功能良好,牙周无明显炎症.基牙以及桥体下方牙龈无明显红肿,X线片示基牙牙周间隙无异常,患者对于修复体的外观及使用情况满意.5年期间修复体的成功率为88.9%.结论 对于伴有基牙倾斜的单个后牙缺失,采用树脂黏结固定桥进行修复的效果可靠,并具有磨牙少、基牙无需进行根管治疗等优点.%Objective To evaluate the restorative effects of customarily designed resin bonded fixed partial denture (RBFPD) on single posterior tooth anodontia accompanied by tilted distal abutment, and summarize the indications and characteristics of RBFPD. Methods From 2002 to 2003, 18 outpatients with single posterior tooth anodontia accompanied by tilted distal abutment were selected for the present study in the Department of Stomatology, General Hospital of People's Liberation Army. The gradient of tilted abutment was less than 50°. All the teeth with abutments were vital without obvious loosening or abnormal periodontal condition. The position and configuration of occlusion rest and retainer of denture were designed according to the inclination of abutment and cast survey. Titanium alloy or cobalt-chromium porcelain fused to metal RBFPD was prescribed, and all patients were

  6. Prosthetic rehabilitation of a preschooler with induced anodontia - A clinical report

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    Shivayogi M Hugar

    2011-01-01

    Full Text Available A case of prosthetic rehabilitation with complete dentures for a three year nine months old child is presented. Dental prosthesis are frequently used to avoid psychologic, speech, or swallowing problems in preschooler children. The case was followed up for a period of three years. These prosthesis were modified as the child grew and as the permanent teeth erupted into the oral cavity the dentures were trimmed from the areas of erupting teeth to facilitate their eruption.

  7. Prosthetic rehabilitation of a preschooler with induced anodontia – A clinical report

    OpenAIRE

    Hugar, Shivayogi M; Anand L Shigli; Ravindranath Reddy, P. V.; N M Roshan

    2011-01-01

    A case of prosthetic rehabilitation with complete dentures for a three year nine months old child is presented. Dental prosthesis are frequently used to avoid psychologic, speech, or swallowing problems in preschooler children. The case was followed up for a period of three years. These prosthesis were modified as the child grew and as the permanent teeth erupted into the oral cavity the dentures were trimmed from the areas of erupting teeth to facilitate their eruption.

  8. Prosthetic Rehabilitation in Children: An Alternative Clinical Technique

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    Nádia Carolina Teixeira Marques

    2013-01-01

    Full Text Available Complete and partial removable dentures have been used successfully in numerous patients with oligodontia and/or anodontia. However, there is little information in the literature regarding the principles and guidelines to prosthetic rehabilitation for growing children. This case report describes the management of a young child with oligodontia as well as the treatment planning and the prosthetic rehabilitation technique.

  9. A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, D. L.; Jensen, P. K. A.

    2014-01-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous na...

  10. Prosthodontic management of anhidrotic ectodermal dysplasia

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    Shilpy Gupta

    2011-01-01

    Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

  11. Christ siemens touraine syndrome: A rare case report.

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    Retnakumari, N; Varghese, Manuja; Kannan, V P

    2016-01-01

    Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation. PMID:27080972

  12. Oral rehabilitation of children with ectodermal dysplasia.

    Science.gov (United States)

    Montanari, Marco; Callea, Michele; Battelli, Filippo; Piana, Gabriela

    2012-01-01

    The aim of this study was to describe the clinical treatment of young patients, affected by ectodermal dysplasia (ED), and to possibly establish clinical guidelines. The study design was case series. ED syndromes (EDs) are a heterogeneous group of inherited diseases characterised by abnormal development of tissues of ectodermal origin. The most common form of EDs is X linked hypohidrotic ED (HED). Characteristic triad of HED is oligo-anodontia, hypotricosis, hypo-anhydrosis. Oligo-anodontia is one of the most severe impairment, since it affects chewing, swallowing, speech, esthetics and social relation. Early prosthetic rehabilitation (at 2-3 years of age), with partial or complete dentures, is essential to improve oral function and reduce the social impairment. PMID:22729329

  13. Prosthodontic management of patients with Christ–Siemens–Touraine syndrome

    OpenAIRE

    Shigli, Anand; Airen Sarkar, Priyanka

    2012-01-01

    Christ–Siemens–Touraine syndrome also known as anhidrotic ectodermal dysplasia. Ectodermal dysplasia is a hereditary disorder characterised by developmental dystrophies of ectodermal derivatives. It is characterised by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. The case ...

  14. A rare case of concomitant hypo-hyperdontia in identical twins

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    Sharma A

    2008-10-01

    Full Text Available Concomitant hypodontia and hyperdontia is a rare condition of unknown etiology. One such case of occurring in identical twins in mixed dentition is presented and discussed. A sibling, especially a twin of an affected patient, should be suspected of having a similar problem, even if he or she is asymptomatic. Genetic factors probably play an important etiological role in the co-occurence of partial anodontia and supernumerary teeth.

  15. Agenesis of maxillary permanent first molars: literature review and two case reports

    OpenAIRE

    Anthonappa, RP; Yiu, CKY; King, NM

    2009-01-01

    Congenital absence of teeth is the most commonly known developmental dental anomaly in humans. Agenesis of the permanent first molars has the least frequency of all the tooth types and when present, usually occurs in association with oligodontia or anodontia. Generally, it is easy to diagnose agenesis of the permanent first molars retrospectively, based on the clinical morphology and x-ray photographic features of the permanent second molars; while it is often debatable when made prospectivel...

  16. Hypohidrotic Ectodermal Dysplasia (ED): A Case Series

    OpenAIRE

    Kishore, Mallika; Panat, Sunil R; Aggarwal, Ashish; Agarwal, Nupur; Upadhyay, Nitin; Ajai, Kratika; Alok, Abhijeet

    2014-01-01

    Ectodermal Dysplasia (ED) is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Dental manifestations include hypodontia, complete anodontia or malformed teeth. The most common form of the ED syndrome is hypohidrotic ED and is usually inherited as an X-linked recessive trait. Female carriers may have a variable degree of clinical manifestations. The condition is thought to occ...

  17. HYPOHIDROTIC ECTODERMAL DYSPLASIA : A REPORT OF TWO CASES IN A FAMILY

    OpenAIRE

    Guru Prasad; Parvathi; Krishnarao V.; Jhansi Lakshmi; Brahma

    2015-01-01

    Ectodermal Dysplasia (ED) is a rare disorder with defects in two or more of the following structures: the teeth , skin and its appendages including hair , nails , eccrine , and sebaceous glands. Dental manifestations include hypodontia , complete anodontia or malformed teeth. The most common form of the ED is hypohidrotic ED and is usually inherited as an X - linked recessive trait. Female carriers may have a variable degree of clinical manif...

  18. Diagnosis and Management of a Patient with Congenitally Missing Maxillary First Permanent Molars: A Rare Case Report.

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    Gupta, Megha; Panda, Suman; Mutawwam, Fahad Ahmed; Kariri, Fahad Musawi Mohammed

    2016-01-01

    Congenitally missing teeth are the most commonly seen dental anomalies. Agenesis of the permanent first molar has the least frequency of all the tooth types, and it usually occurs in association with oligodontia or anodontia. Thus, agenesis of the bilateral maxillary first permanent molar is an extremely rare occurrence, and no such case has been reported in ethnic Saudi Arabian population. We hereby report a case of nonsyndromic bilateral congenitally missing maxillary first permanent molar in an eight-year-old Saudi female patient. Comprehensive oral rehabilitation was done for the patient. The implications of the tooth agenesis are also discussed. The prognosis of this case is presented. PMID:27525130

  19. Reduced systemic bone mineral density associated with a rare case of tooth and nail syndrome

    International Nuclear Information System (INIS)

    Purpose: This is the first report of a rare genetic tooth and nail syndrome (TNS) diagnosed in a 14-year-old Caucasian girl with a complete absence of the permanent dentition and, additionally, reduced total and lumbar spine bone mineral density (BMD). This coincidence suggests a new clinical manifestation of the disorder in which genetic factors and/or shared mechanisms may be responsible for the deterioration of the stomatognathic system, anodontia, nail phenotype and osteopenia. Low bone mass appears to be a new component of the syndrome. There is a rationale for bone densitometry scans assuming that patients with TNS may have an increased risk of osteopenia. Reduced BMD and, possibly, impaired bone quality and strength may produce difficulties or even exclude such patients from future treatment with dental implants. (authors)

  20. REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

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    Susi R. Puspita Dewi

    2015-07-01

    Full Text Available Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male. The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, congenital teeth, underdevelopment of alveolar ridges and it is not uncommon for the face of an affected child to take on the appearance characteristic of old age, a prominent forehead, protuberant lips, a depressed nasal bridge, hypotricosis, and hypohidrosis. The treatment to manage orogacial disfigurement may afford the patient some measure of confidence, esthetics, function and speech. This case report describes the diagnosis and treatment of ectodermal dysplasia in an 18 year patient. The treatment included removable complete denture.

  1. Dento-maxillofacial abnormalities caused by radiotherapy and chemotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Park, Cheol Woo; Hwang, Eui Hwang; Lee, Sang Rae [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kyunghee University, Seoul (Korea, Republic of)

    2000-12-15

    A case of dento-maxillofacial abnormality involving a 10-year-old male patient with a history of esthesioneuroblastoma is presented. This patient had been treated with 54 Gy {sup 60}Co-gamma-radiation to the nasal cavity for 6 weeks and 6 cycles of combination chemotherapy of Cyclophosphamide, Cisplatin, Adriamycin, VM-26 (Teniposide), and DTIC (Dacarbazine) when he was 16 months of age. Five years after cessation of cancer therapy, he was disease free and transferred for extensive dental care to Kyung Hee University Dental Hospital. A clinical and radiologic follow-up over last 4 years showed root stunting, premature closure of the root apices, microdontia, developmental arrest, small crowns, and partial anodontia. Maxillofacial morphology evaluated by cephalometric analysis showed deficiency of maxillary development.

  2. Pemakaian Gigi Tiruan Sebagian Pada Penderita Ektodermal Displasia dengan Anondonsia Parsial

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    Rastia Indriyati

    2015-09-01

    Full Text Available Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structure and their accessory appendeges. The main feature is hypohidrosis, hypotrichosis and hypodontia. Ectodermal dysplasia appear to be ingeritaed as an x-linked recessive trait. Common manifestations include frontal bossing with prominent supraorbital ridges, nasal bridge depression, protuberant lips and defective hair follicles and eyebrows. Intraorally, common findings are hypodontia or anodontia and conical teeth. The treatment is to improve the appearance and oral function included a removable prosthesis. A 5-year-old and 9-year-old male in the same family, described in the case report of ectodermal dysplasia with removable partial dentures

  3. Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery

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    Elif Oral Ahiskalioglu

    2015-12-01

    Full Text Available ABSTRACT Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

  4. HYPOHIDROTIC ECTODERMAL DYSPLASIA : A REPORT OF TWO CASES IN A FAMILY

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    Guru Prasad

    2015-01-01

    Full Text Available Ectodermal Dysplasia (ED is a rare disorder with defects in two or more of the following structures: the teeth , skin and its appendages including hair , nails , eccrine , and sebaceous glands. Dental manifestations include hypodontia , complete anodontia or malformed teeth. The most common form of the ED is hypohidrotic ED and is usually inherited as an X - linked recessive trait. Female carriers may have a variable degree of clinical manifestations. The condition is thought to occur in approximately 1 in every 100 , 000 live births. Dental treatment for these patients varies on an individual basis. Children with ED are often treated for dental problems with conventional adult a ppearing prosthesis . Here with we are reporting two classical cases of hypohidrotic ED with a review of the literature.

  5. Oculodentodigital dysplasia.

    Science.gov (United States)

    Doshi, Dharmil C; Limdi, Purvi K; Parekh, Nilesh V; Gohil, Neepa R

    2016-03-01

    Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood. PMID:27146935

  6. Ectodermal Dysplasia: Management of Knife-Edged Irregular Ridge and Its Rehabilitation with Hybrid Implant Prosthesis.

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    Revanappa, Prithviraj Doddamane; Gaur, Satyam; Srivastava, Rachana; Patil, Abhishekha; Prithviraj, Shruthi Doddamane

    2016-05-01

    Ectodermal Dysplasia Syndrome (EDS) is mainly X-linked inherited disorder with male predominance. According to Lyon hypothesis, female patients may show partial expression of EDS. Oral findings include hypodontia, rarely anodontia, protuberant lips, hyposalivation, conical teeth and loss of vertical dimension. The alveolar process fails to develop in the three dimensions. Such patients present a challenge to dental treatment due to an irregular residual ridge. This case report presents oral, functional and aesthetic rehabilitation of a 21-year-old female diagnosed with EDS using implants in the anterior maxilla at the sites of the canines bilaterally. Following, implant placement, it was noted that implant in the region of right canine was labially inclined compared to implant in the region of left canine, but both were centered in the ridge. To manage non-parallelism, one-piece titanium framework was fabricated using computer numeric controlled (CNC) machine. Subsequently, tooth and gingival shade ceramics were fired to simulate natural teeth and compensate for gingival deficiency respectively. The treatment described here restored patient's aesthetics, function, self-confidence and status in society. PMID:27437373

  7. Peran Gigi pada Tumbuh Kembang Dentofasial (Laporan Kasus

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    Retno Hayati

    2015-11-01

    Full Text Available The function of dentition is not only for mastication, the other function is to coordinate the growth of maxilla, midface and mandible. This important function was done through occlusal contact during occlusion. The occlusal surfaces become a link of stomato-gnathic system. This case report showed the midface growth was affected by agenesis. The first case was 10-years old girl with congenital missing 16 and 26. The relationship of upper and lower arch erior was edge to edge and crossbite. In posterior, the occlusal contact were found between upper second primary molars and lower first permanent molars. The second and third cases were 5 and 9-years old boys. They were siblings with ectodermal dysplasias and partial anodontia. The facial profile of these children were concave. The relationship of maxilla and mandible was class III. The manifestation of growth retardation was shown by cephalometric measurement, SN, Ans-Pns, Ptm-A, N-Me, Ans-Me, S-Go were smaller than standard normal children.

  8. Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review.

    Science.gov (United States)

    Wang, Y; He, J; Decker, A M; Hu, J C; Zou, D

    2016-08-01

    The purpose of this review was to determine the outcome of oral function reconstruction in ectodermal dysplasia (ED) patients who have received dental implant therapy. A search was made of the PubMed and Web of Science databases; key words used were "(ectodermal dysplasia) AND (implant OR implants)", with supplementary retrieval key words "dental implant", "zygomatic implant", "anodontia", and "edentulous". Patient age, use of bone graft, implant site, type of implant, and survival rate of the implants were included in the subsequent data analysis. Forty-five articles published between 1988 and October 2015 were included in this analysis. The cases of a total of 96 patients were retrieved (22 children and 74 adults); these patients received a total of 701 implants. Fourteen implants were removed during a median follow-up time of 24 months. The 24-month implant survival rate was 97.9% in adult subjects and 98.6% in children. Sixty-eight percent of adult patients underwent bone augmentation prior to implant placement. Based on this review, dental implants are commonly used in the oral reconstruction of ED patients. However, long-term data on bone augmentation and implant success are needed, as well as additional clinical evidence on bone resorption, the esthetic outcomes of implant therapy, and physiological considerations in ED patients. PMID:27052318

  9. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.

    Science.gov (United States)

    Bailleul-Forestier, Isabelle; Molla, Muriel; Verloes, Alain; Berdal, Ariane

    2008-01-01

    The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and development, belong to signalling pathways and have morphogenesis regulatory functions in morphogenesis of other organs where they are associated with the signalling pathways. Their mutations often show pleïotropic effects beyond dental morphogenesis resulting in syndromic developmental disorders. Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). By contrast, genes involved in enamel (AMELX, ENAM, MMP20, and KLK4) and dentin (DSPP) structures are highly specific for tooth. Mutations in these genes have been identified as causes of amelogenesis imperfecta, dentinogenesis imperfecta, dentin dysplasias and anomalies of teeth number (hypo-, oligo and anodontia), which only partially overlap with the classical phenotypic classifications of dental disorders. This review of genetic basis of inherited anomalies describes, in this first paper, the molecular bases and clinical features of inherited non-syndromic teeth disorders. And in a second part, the review focus on genetic syndromes with dental involvement. PMID:18499550

  10. Oculodentodigital dysplasia

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    Dharmil C Doshi

    2016-01-01

    Full Text Available Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo, teeth (dento, and fingers and/or toes (digital. The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

  11. Cenozoic Methane-Seep Faunas of the Caribbean Region.

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    Steffen Kiel

    Full Text Available We report new examples of Cenozoic cold-seep communities from Colombia, Cuba, the Dominican Republic, Trinidad, and Venezuela, and attempt to improve the stratigraphic dating of Cenozoic Caribbean seep communities using strontium isotope stratigraphy. Two seep faunas are distinguished in Barbados: the late Eocene mudstone-hosted 'Joes River fauna' consists mainly of large lucinid bivalves and tall abyssochrysoid gastropods, and the early Miocene carbonate-hosted 'Bath Cliffs fauna' containing the vesicomyid Pleurophopsis, the mytilid Bathymodiolus and small gastropods. Two new Oligocene seep communities from the Sinú River basin in Colombia consist of lucinid bivalves including Elongatolucina, thyasirid and solemyid bivalves, and Pleurophopsis. A new early Miocene seep community from Cuba includes Pleurophopsis and the large lucinid Meganodontia. Strontium isotope stratigraphy suggests an Eocene age for the Cuban Elmira asphalt mine seep community, making it the oldest in the Caribbean region. A new basal Pliocene seep fauna from the Dominican Republic is characterized by the large lucinid Anodontia (Pegophysema. In Trinidad we distinguish two types of seep faunas: the mudstone-hosted Godineau River fauna consisting mainly of lucinid bivalves, and the limestone-hosted Freeman's Bay fauna consisting chiefly of Pleurophopsis, Bathymodiolus, and small gastropods; they are all dated as late Miocene. Four new seep communities of Oligocene to Miocene age are reported from Venezuela. They consist mainly of large globular lucinid bivalves including Meganodontia, and moderately sized vesicomyid bivalves. After the late Miocene many large and typical 'Cenozoic' lucinid genera disappeared from the Caribbean seeps and are today known only from the central Indo-Pacific Ocean. We speculate that the increasingly oligotrophic conditions in the Caribbean Sea after the closure of the Isthmus of Panama in the Pliocene may have been unfavorable for such large

  12. Ectodermal dysplasias: the p63 tail.

    Science.gov (United States)

    Tadini, G; Santagada, F; Brena, M; Pezzani, L; Nannini, P

    2013-02-01

    Various combinations of limb anomalies, ectodermal dysplasias and orofacial clefts characterize heterozygous mutations in the transcription factor gene p63. The causative gene is crucial during embryonic ontogenesis, mostly in the development of limbs and other ectodermal derived tissues. The pattern of mutations in six different p63-related syndromes (EEC syndrome, AEC syndrome, ADULT syndrome, LMS syndrome, RHS syndrome, SHFM syndrome) shows genotype-phenotype correlations. The most frequent p63 mutation syndrome is the EEC syndrome, characterized by ectrodactyly, ectodermal dysplasia and cleft lip/palate. Ectodermal dysplasia is characterized by ectrodactyly often associated with syndactyly, sparse hair, dry skin, hypo-anodontia, dysplastic nails and alterations in sebaceous glands, mammary glands and nipples. The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome). The latter can be distinguished from other p63 syndromes by the absence of orofacial clefting and by prominent ectodermal signs. The narrowest genotype-phenotype correlation is in the EEC and AEC syndromes. All EEC missense mutations are clustered in the DNA binding domain and do not bind to DNA; in contrast, all missens mutations reported in AEC syndrome are localized in the α-motif domain, and it has been demonstrated that they disrupt interaction with other proteins. LMS and ADULT syndrome have their own unique mutated amino-acid residues. Only two amino-acid residues are known to be mutated amongst ADULT syndrome: asparagines 6 and

  13. Clinical parameters of the local anesthetic effects of bupivacaine applied with and without a vasoconstrictor in oral implantology

    Directory of Open Access Journals (Sweden)

    Duka Miloš

    2007-01-01

    Full Text Available Background/Aim. Bupivacaine (Marcaine®, homologue of mepivacaine, chemically related to lidocaine, is used as a local anesthetic for local infiltration, peripheral nerve block, retrobulbar block, symphathetic block, and caudal and epidural anesthesia. The aim of this investigation was to determine and to compare clinical parameters of the local anesthetic effects of bupivacaine applied with and without a vasoconstrictor. Methods. This investigation included a total of 30 randomly selected patients, who ranged in age from 30−60 years, with partial or total anodontia in the molar region of the mandible. These patients with total or partial edentulous molar part of the mandible, scheduled for dental implantation placement, were asked to participate in the study. In the first phase of the investigation, the patients were subjected to local anesthesia with 3.5 cm3 of 0.5% bupivacaine with a vasoconstrictor (adrenalin, 1: 200 000 in the right side of the mandible. After administering local anesthesia, the placement of blade, cylindrical, transdental (B.C.T. implants was performed. In the second stage of the investigation, in 7−10 days period after the first oral surgery, the patients were subjected to local anesthesia with 3.5 cm3 of 0.5% bupivacaine, but without a vasoconstrictor, in the left side of the mandible. After administering local anesthesia, the placement of B.C.T. implants was performed. During the performance of both oral surgery procedures, the following clinical parameters of the local anesthetic effects were monitored: latent period, duration and the potency of anesthesia, and the evaluation of the postoperative pain level. Results. The latent period under local anesthesia with 3.5 cm3 of 0.5% bupivacaine and vasoconstrictor was statistically significantly shorter than without vasoconstrictor. The duration of local anesthesia was longer without vasoconstrictor. There was no difference in the potency of anesthesia with or without a