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Liu H C HC Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, - - 2014
Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the ...
Wong Chee Wai CW Pediatric Ophthalmology and Strabismus Service, Singapore National Eye Centre , - - 2014
Abstract We describe a variant of canine tooth syndrome managed with combined inferior rectus recession and Faden operation of the contralateral eye.
Alotaibi Ahmed K AK Bachelor of Dental Surgery Collage of Dentistry, King Saud University, Riyadh, Saudi - - 2014
Olmsted syndrome is a rare palmoplantar keratodermal disease that has not previously been reported to have an association with periodontal disease. The aim of this study is to report and document a case of Olmsted syndrome with evidence of severe periodontal disease. A 38-year old Saudi male patient presented to ...
Boggula Vijay R - - 2014
Background & objectives: Developmental delay (DD)/mental retardation also described as intellectual disability (ID), is seen in 1-3 per cent of general population. Diagnosis continues to be a challenge at clinical level. With the advancement of new molecular cytogenetic techniques such as cytogenetic microarray (CMA), multiplex ligation-dependent probe amplification (MLPA) techniques, ...
Tsilingaridis G G Division of Paediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Huddinge, Sweden; Department of Paediatric Dentistry, Eastmaninstitutet, Stockholm, - - 2013
Altered immune response may be a major contributor to periodontal disease in Down syndrome. This study investigated the relationship between peripheral lymphocytes and matrix metalloproteinases (MMPs) in serum in Down syndrome children with gingivitis. Children with Down syndrome (n = 10) and healthy controls (n = 10) were clinically and radiographically examined during dental ...
Kantaputra Piranit Nik - - 2013
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, ...
Kumagai Akira - - 2013
The occurrence of soft tunic syndrome in wild populations of the ascidian Halocynthia roretzi was monitored by diving at 5 to 6 sites in Miyagi Prefecture in Japan in summer 2010 and 2011. These sites were located at varying distances from farming sites at which the disease had previously been ...
Vassileva Christina M - - 2013
Type A intramural hematoma (IMH) is an uncommon entity, the pathophysiology of which is thought to be related to a contained hemorrhage within the medial layer of the aorta as a result of either rupture of the vasa vasorum or an atherosclerotic plaque. We present a case of type A ...
Rezende Karla Mayra KM Department of Pediatric Dentistry, School of Dentistry, USP - University of São Paulo, São PauloSP, - - 2013
The Chediak-Higashi syndrome (CHS) is a rare hereditary fatal disease, if not treated. These changes are associated with various diseases and syndromes that mainly cause periodontal disease and thus the premature loss of teeth. This paper describes the monitoring of premature loss of primary teeth that began when the child ...
Cingano L - - 2013
The authors examined four patients with Williams syndrome presenting characteristic odontostomatological alterations. Agenesis, dental deposits, chewing difficulties due to bone malformations and poor cooperation of patients with malformations also in other districts and mental and physical retardation require the dentist to adopt different approaches, from restorative to orthodontic treatment, from ...
Ballesta-Mudarra G - - 2013
Objectives: Cri du chat syndrome is a genetic alteration associated with some oral pathologies. However, it has not been described previously any clinical relationship between the periodontal disease and the syndrome. The purpose of this comparative study was to compare periodontopathogenic flora in a group with Cri du chat syndrome ...
Klein Ophir D - - 2013
Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of abnormal tooth development and the implications of these abnormalities for clinical care. As an introduction, we describe general insights into the genetics of tooth ...
Reddy Naveen Admala NA Department of Orthodontics & Dento-facial Orthopaedics, AME's Dental College & Hospital, Raichur, Karnataka, - - 2013
Background: Non Syndromic tooth agenesis is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study was to test whether MSX1 671 T>C gene variant was involved in ...
Sacchidanand S S Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, - - 2013
Progressive symmetric erythrokeratoderma (PSEK) is a rare genodermatosis with variable inheritance. It is characterized by symmetrical, erythematous, and hyperkeratotic plaques on the extremities. We report a case of a 15-year-old boy with PSEK of autosomal recessive inheritance associated with nephrotic syndrome.
Reddy Naveen Admala NA Department of Orthodontics, Academy of Medical Education's Dental College and Hospital, Raichur, Karnataka, - - 2013
Non-syndromic tooth agenesis is a congenital anomaly with significant medical, psychological, and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study was to test whether MSX1 671 T > C gene variant was involved in ...
Lee Kyeong-Soo - - 2013
The aim of this study was to investigate the relationship between the duration and number of components of metabolic syndrome and periodontal disease among rural elderly in Korea over 60 years old. This longitudinal study consisted of 399 participants who underwent regular health examinations at Seongju-gun Public Health Center from ...
Singh Medha M Department of Oral Medicine, Infection and Immunity, Division of Periodontology, Harvard School of Dental Medicine, Harvard University, Boston, MA, - - 2013
Background: Bleeding on probing (BOP) is a frequent observation in patients with Sjögren's syndrome and a sialagogue is routinely prescribed for these patients. Objective: The objective of this study was to evaluate the effect of sialagogue (muscarinic cholinergic agonists) on BOP in patients with Sjögren's syndrome. Materials and Methods: This ...
Touyz Louis Z G - - 2013
This hypothesis states that active aggressive periodontitis is an important source of putative endotoxin contributing to the onset of septic shock syndrome [SSS]. Consequently patients with periodontitis may be more prone to developing SSS in predisposing conditions.
- - 2013
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities: microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes equinovarus. Presence of microstomia is always associated with practical difficulties of oral hygiene maintenance and increased ...
Attia Abdalla M - - 2013
Olmsted syndrome is a rare keratinization disorder characterized by a combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction of digits. We report a case of Olmsted syndrome in a ...
Montenegro Luciana Ribeiro - - 2013
OBJECTIVE: To investigate the role of KAL1 abnormalities in Brazilian patients with Kallmann syndrome. DESIGN: In vitro experiments. SETTING: Academic medical center. PATIENT(S): One hundred fifteen Brazilian patients (98 men) with Kallmann syndrome. INTERVENTION(S): Peripheral blood leukocytes were used to obtain DNA. MAIN OUTCOME MEASURE(S): Direct sequencing and multiplex ligation-dependent probe ...
Sharma Anupriya - - 2013
Papillon-Lefèvre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome, but a recent report has suggested that the condition is linked to ...
Gontijo Gabriela Maria Abreu - - 2013
The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on ...
Sora Nicoleta D - - 2013
AIM: To assess associations of metabolic syndrome, and its individual components, with extent of severe periodontitis among patients with type 2 diabetes mellitus (T2DM). MATERIALS & METHODS: We performed a secondary data analysis (N = 283) using a cross-sectional study population of Gullah African Americans with T2DM. Extent of severe periodontitis was ...
Ramesh Amitha - - 2013
The periodontal tissues mount an immune inflammatory response to bacteria and their products and the systemic challenge with these agents also induce a major vascular response. Although many studies have found a correlation between chronic periodontitis and cardiovascular diseases, the role of infection in acute coronary syndrome is disputed. The ...
Elavarasu Sugumari - - 2013
The Sturge-Weber syndrome is a rare uncommon neurocutaneous disorders with angiomas involving the leptomeninges (Leptomeningeal Angiomas) and skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The cutaneous angioma is called a Port-Wine Stain. It is commonly referred to as "Sturge-Weber syndrome ...
Tsilingaridis G - - 2013
BACKGROUND AND OBJECTIVE: Periodontitis is more frequently found in subjects with Down's syndrome. The aim was to investigate whether the relationship between MMPs and TIMPs) in the gingival crevicular fluid of subjects with Down's syndrome is altered compared with controls. MATERIAL AND METHODS: Twenty-one adolescents with Down's syndrome and gingivitis ...
Kiraz A - - 2013
Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face. We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and ...
Priyanka M - - 2013
Frenal attachments are thin folds of mucous membrane with enclosed muscle fibers that attach the lips to the alveolar mucosa and underlying periosteum. Most often, during the oral examination of the patient the dentist gives very little importance to the frenum, for assessing its morpholology and attachment. However, it has ...
Akgun Ozlem Marti - - 2013
The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and ...
Mohan Ravi Prakash Sasankoti - - 2013
Taurodontism leads to constriction of the cementoenamel junction, which results in vertically elongated pulp chambers, apical displacement of the pulpal floor, and bifurcation or trifurcation of the root. This trait can be seen in permanent and primary teeth, in a single tooth or in several molars in the same quadrant, ...
Yadav Rakesh Kumar - - 2013
Hyperdontia or supernumerary teeth in the absence of associated systemic condition or syndrome is an uncommon phenomenon. Non-syndromic supernumerary teeth need to have periodical radiographic observation. In the case of asymptomatic condition, as they impacted in the jaw, a careful examination is necessary because they may develop into pathological status ...
Kalakonda Butchibabu - - 2013
Sturge-Weber syndrome (SWS) is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma), and choroidal hemangioma and ...
Sasalawad Shilpa S - - 2013
Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but ...
Mohan Ravi Prakash Sasankoti - - 2013
Hereditary gingival fibromatosis is a rare condition characterised by severe gingival hyperplasia that can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. In severe cases, the gingival enlargement may cover the crowns of teeth and cause severe aesthetic, emotional and functional impairment. This case ...
Khosravi Roozbeh - - 2013
Obesity has become a worldwide health burden in the last two decades. Obesity has been associated with increased comorbidities, such as coronary artery disease, diabetes, and destructive periodontal disease. Obesity is also part of a group of risk factors occurring together in an individual, which is referred to as metabolic ...
Liu Haochen - - 2013
Tooth agenesis is one of the most common anomalies of human dentition. Recent studies suggest that a number of genes are related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we observed that polymorphism in rs929387 of GLI3 might be associated with hypodontia in the Chinese ...
E Romanos Georgios G School of Dental Medicine, Stony Brook - - 2013
The periodontal status of patients with laryngo-onycho-cutaneous syndrome is unknown. This study describes a case of severe aggressive periodontitis in a 19-year-old American-Pakistani female with laryngo-onycho-cutaneous syndrome. The patient showed abundant dental plaque and calculus accumulations, suppuration and hemorrhage from virtually all gingivae and interdental papillae, and extensive radiographic alveolar ...
Pagin Otávio - - 2012
ABSTRACT: Sturge-Weber syndrome is a nonhereditary congenital condition characterized by leptomeningeal and facial skin angiomatous malformation following the trigeminal nerve path. The intraoral angiomatosis are presented in 40% of cases and results in an important periodontal alteration, increasing the risk of bleeding during dental procedures. A 43-year-old male patient presented ...
Crea Filippo - - 2012
Experimental models of atherogenesis have provided a growing body of information about molecular mechanisms of plaque growth; however, transition from coronary stability to instability is less well understood due to the lack of animal models reflective of human disease. The abrupt clinical presentation of acute coronary syndromes gives a strong ...
Pushpanshu Kumar - - 2012
Gingival fibromatosis is characterised by varying degrees of fibrotic gingival overgrowth that can be caused by a variety of aetiological factors. Hereditary gingival fibromatosis (HGF) is a rare genetic disorder, characterised by a slowly progressive, benign enlargement of keratinised gingiva. The condition may be found in an autosomal dominant or ...
Al-Habib Amro - - 2012
We report a rare cause of cervical myelopathy (CM) in a 10-year-old Down syndrome (DS) girl. She presented with progressive CM over 1 year affecting her ability to ambulate or feed herself. The myelopathy was secondary to C2/3 instability. Surgical reduction and instrumented fusion have significantly improved her neurological status. This ...
Terata Miyuki - - 2012
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple recurrent vascular malformations. Herein we report the case of a patient with BRBNS and placenta previa. Sonography and MRI clearly identified several hemangiomas located adjacent to the uterus with none adjacent to the anterior lower uterine segment. ...
Dhadse Prasad Vijayrao - - 2012
Hereditary gingival fibromatosis is a rare benign oral condition characterised by slow and progressive enlargement of both maxillary and mandibular attached gingiva. It may develop as an isolated disorder but can feature along with a syndrome. A case of 12 year old female child who presented with generalised severe gingival ...
Mendes Luciana - - 2012
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, ...
Chung Brian - - 2012
We report on a child with prenatal onset of overgrowth associated with thick, excessive wrinkled skin and other abnormalities including cleft palate, Chiari malformation and polymicrogyria. His clinical features do not resemble any of the known reported overgrowth syndromes. Genetic evaluations, including karyotype, oligoarray, methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) ...
He Long - - 2012
Gingival fibromatosis is a rare disease, especially its syndromic form. Here, we review the literatures on gingival fibromatosis and briefly summarize some characters on clinical, etiological, genetic and histopathological aspects. We also present a rare case of gingival fibromatosis with multiple unusual findings in a 21-year-old man. And we differentiate ...
Singh Ankur - - 2012
We report late presentation of caudal regression syndrome in a 9 year old presenting with a scoliotic deformity. She in addition had an asymptomatic cervical syrinx and vitiligo. We discuss the reasons for this unusual constellation of symptomatology present in our case.
Wright Edward F - - 2012
Cracked tooth syndrome (CTS) can be a perplexing disorder to diagnose and manage. Many practitioners wonder whether the latest dental materials and adhesives can or should be used when restoring these teeth. The authors reviewed the literature and developed recommendations for how to diagnose and manage CTS and prevent it ...
Duddu Mahesh K - - 2012
Gingival fibromatosis is a benign oral condition characterized by enlargement of gingival tissues. It usually develops as an isolated disorder but can be one of the features of a syndrome. This case report is of a 5-year-old male with severe gingival hyperplasia and mild mental retardation which was complicated by ...
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