Abstract：
BACKGROUND:CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12. CASE PRESENTATION:A South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She presented with many oral and craniofacial features warranting consideration by the dentist including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated. CONCLUSION:CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. The numerous systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. Given the abnormalities frequently present in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS.
journal_name
Head Face Medjournal_title
Head & face medicineauthors
Chetty M,Roberts TS,Elmubarak M,Bezuidenhout H,Smit L,Urban Mdoi
10.1186/s13005-020-00224-4subject
Has Abstractpub_date
2020-05-08 00:00:00pages
10issue
1issn
1746-160Xpii
10.1186/s13005-020-00224-4journal_volume
16pub_type
杂志文章,评审abstract：:Melanotic neuroectodermal tumor of infancy (MNTI) is a rare condition that occurs normally in the anterior maxilla of infants aged <1 year. The use of clinical and imaging tools for MNTI is extremely important to prevent problems with function as well as the aesthetic features in a breastfeeding child. Brazil is a mul...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-9-35
更新日期：2013-11-25 00:00:00
abstract：BACKGROUND:The apparent interactions between the mechanisms of action of non-steroidal anti-inflammatory drugs (NSAIDS) and steroids suggest that co-therapy may provide beneficial inflammatory and pain relief in the absence of side effects. The aim of the study was to compare the effect of co-administered dexamethasone...
journal_title：Head & face medicine
pub_type： 杂志文章,随机对照试验
doi：10.1186/1746-160X-1-11
更新日期：2005-11-07 00:00:00
abstract：INTRODUCTION:Various surgical procedures are available to correct paralytic ectropion, which are applied in irreversible facial paresis. Problems occur when facial paresis has an unclear prognosis, since surgery of the lower eyelid is usually irreversible. We propose a simple method to correct temporary ectropion in fa...
journal_title：Head & face medicine
pub_type： 临床试验,杂志文章
doi：10.1186/1746-160X-4-12
更新日期：2008-07-21 00:00:00
abstract：BACKGROUND:Successful treatment of patients with multiple bilateral impactions can be an orthodontic challenge, but few reports on treatment planning and execution exist. CASE PRESENTATION:In this case report, we describe the successful orthodontic treatment of a 16.3-year old female patient without systemic or geneti...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-016-0122-0
更新日期：2016-07-25 00:00:00
abstract：OBJECTIVE:Patients suspected of having swallowing disorders, could highly benefit from simple diagnostic screening before being referred to specialist evaluations. The article analyzes various instrumental methods of dysphagia assessment, introduces surface electromyography (sEMG) to carry out rapid assessment of such ...
journal_title：Head & face medicine
pub_type： 杂志文章,评审
doi：10.1186/1746-160X-5-9
更新日期：2009-02-20 00:00:00
abstract：INTRODUCTION:The aim of this study was to compare the shear bond strength of Biodentine, ProRoot MTA (MTA), glass ionomer cement (GIC) and composite resin (CR) on dentine. METHODS:120 extracted human third molars were embedded in cold-cured-resin and grinned down to the dentine. For each material 30 specimens were pro...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-015-0071-z
更新日期：2015-04-19 00:00:00
abstract：BACKGROUND:A pneumatized superior turbinate is a rare cause of headache. Nasal endoscopy alone, does not provide us with adequate information for this inaccessible area of the superior nasal cavity. A coronal computed tomography (CT) must be obtained to confirm the diagnosis. CASE PRESENTATION:We present a 40-year-old...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-3-3
更新日期：2007-01-09 00:00:00
abstract：INTRODUCTION:The aim of the study was to compare the detectability of neck vessels with contrast enhanced magnetic resonance angiography (MRA) in the setting of a whole-body MRA and multislice computed tomography angiography (CTA) for preoperative vascular mapping of head and neck. METHODS:In 20 patients MRA was perfo...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-10-16
更新日期：2014-05-12 00:00:00
abstract：BACKGROUND:The reconstruction of large head and face missing structures in the craniofacial region in children is very challenging for plastic surgeons. Expanded local and expanded axial-pattern flaps are widely used for the reconstruction of large-area scars. Free flaps are used very cautiously in children. 3D printin...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-020-00219-1
更新日期：2020-03-03 00:00:00
abstract：BACKGROUND:The role of human papillomavirus (HPV) in orthokeratinized odontogenic cysts (OOCs) has rarely been studied. The objective is to describe the clinicopathological findings in a series of OOCs from a Spanish population that were investigated in relation to the possible presence of HPV. METHODS:A clinicopathol...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-018-0167-3
更新日期：2018-07-13 00:00:00
abstract：:The traumatic bone cyst (TBC) is an uncommon nonepithelial lined cavity of the jaws. The lesion is mainly diagnosed in young patients most frequently during the second decade of life. The majority of TBCs are located in the mandibular body between the canine and the third molar. Clinically, the lesion is asymptomatic ...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-2-40
更新日期：2006-11-12 00:00:00
abstract：BACKGROUND:Ablative tumor surgery often results in continuity defects of the mandible. When an immediate reconstruction using autologous bone grafts is not possible the bridging of the defects with a variety of bridging plates might be achieved. However, those bridging plates have the risk of plate fractures or exposur...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-016-0114-0
更新日期：2016-04-11 00:00:00
abstract：BACKGROUND:The most common malignant salivary gland tumors that affect both adult and children is mucoepidermoid carcinoma. It usually affects both minor and major salivary glands but parotid gland is considering the most common site in which this tumor arises. CD44, a trans-membrane glycoprotein, is an adhesion molecu...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-016-0102-4
更新日期：2016-01-29 00:00:00
abstract：INTRODUCTION:This study determined the amount and severity of EARR (external apical root resorption) after orthodontic treatment with self-ligating (SL) and conventional (Non-SL) brackets. Differences regarding rate of extraction cases, appointments and treatment time were evaluated. MATERIAL AND METHODS:213 patients ...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-10-2
更新日期：2014-01-23 00:00:00
abstract：INTRODUCTION:The annual examination of first graders' oral health as stipulated by law aimed to reach every child in Rhineland-Palatinate (Germany) in their first year of school. We intended to evaluate the first graders' oral health based on the examination data for 2013/2014. METHODS:Instructed examiners measured th...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-015-0091-8
更新日期：2015-10-02 00:00:00
abstract：BACKGROUND:Hyperbaric oxygen (HBO) therapy is an effective adjunct treatment for ischemic disorders such as chronic infection or chronic wounds. It combines hyperoxic effects with the stimulating potential of post-therapeutic reactive hypoxia. As its crucial effects, stimulation of fibroblast growth, induction of colla...
journal_title：Head & face medicine
pub_type： 临床试验,杂志文章
doi：10.1186/1746-160X-6-29
更新日期：2010-12-22 00:00:00
abstract：BACKGROUND:The purpose of this study was to assess the influence of head and neck pathologies on the detection rate, configuration and diameter of the thoracic duct (TD) and right lymphatic duct (RLD) in computed tomography (CT) of the head and neck. METHODS:One hundred ninety-seven patients were divided into the subg...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-016-0108-y
更新日期：2016-03-31 00:00:00
abstract：INTRODUCTION:The aim of this study was to compare solubility, microhardness, radiopacity, and setting time of Biodentine with ProRoot MTA. METHODS:Solubility in distilled water, radioopacity, and setting time were evaluated in accordance with International Standard ISO 6876:2001. In addition, the solubility in Phospha...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-015-0074-9
更新日期：2015-05-02 00:00:00
abstract：INTRODUCTION:It has been shown that Low Level Laser (LLL) has a positive effect on bone formation. The aim of this study was to evaluate the effect of low level laser on condylar growth during mandibular advancement in rabbits. MATERIALS AND METHODS:Continuous forward mandibular advancement was performed in fourteen m...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-8-4
更新日期：2012-02-23 00:00:00
abstract：BACKGROUND:Oral Health-Related Quality of Life (OHRQoL) is an important aspect of quality of life. Acute illnesses, as well as chronic diseases, can have a strong, persisting impact on an individual's quality of life. This study evaluates OHRQoL of patients with odontogenic fascial space abscesses, the underlying condi...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-019-0201-0
更新日期：2019-06-21 00:00:00
abstract：BACKGROUND:Recently, medical rapid prototyping (MRP) models, fabricated with computer-aided design and computer-aided manufacture (CAD/CAM) techniques, have been applied to reconstructive surgery in the treatment of head and neck cancers. Here, we tested the use of preoperatively manufactured reconstruction plates, whi...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-10-45
更新日期：2014-10-23 00:00:00
abstract：INTRODUCTION:This study was performed to examine craniofacial structures in persons with hypodontia and to reveal any differences, that may occur, when agenetic teeth are only found in the maxilla, the mandible or in both jaws. The groups consistent of 50 children (33 girls, 17 boys) aged between 9 and 13.5 years were ...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-7-23
更新日期：2011-12-06 00:00:00
abstract：:Ectopic internal carotid artery (ICA) is a very rare variation. The major congenital abnormalities of the ICA can be classified as agenesis, aplasia and hypoplasia, and they can be unilateral or bilateral. Anomalies of the neck artery may be vascular neoplasms or ectopic position. Carotid angiograms provide absolute c...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-4-20
更新日期：2008-08-26 00:00:00
abstract：BACKGROUND:With the 2005 WHO classification of salivary gland tumours and its increasingly recognized diagnostic entities, the frequency of adenocarcinoma (NOS) has decreased significantly. CASE PRESENTATION:This paper describes a fast growing adenocarcinoma (NOS), originating from the minor salivary glands of the lef...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-4-16
更新日期：2008-07-30 00:00:00
abstract：INTRODUCTION:The cranial base plays an important role in determining how the mandible and maxilla relate to each other. This study assessed the relationship between the cranial base and jaw base in a Chinese population. METHODS:This study involved 83 subjects (male: 27; female: 56; age: 18.4±4.2 SD years) from Hong Ko...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-10-31
更新日期：2014-08-16 00:00:00
abstract：BACKGROUND:Schwannomas are uncommon benign tumors of the external auditory canal. The clinical features, the differential diagnosis, and the surgical treatment of these lesions are discussed. CASE PRESENTATION:A 51-year-old patient presented with a mass obliterating the external auditory meatus. Excisional biopsy was ...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/1746-160X-3-6
更新日期：2007-01-15 00:00:00
abstract：BACKGROUND:To determine three-dimensional spatial orbit skeletal changes in adolescents over a 19 to 24 months observation period assessed through cone-beam computed tomography (CBCT). METHODS:The sample consisted of 50 adolescents aged 11 to 17. All were orthodontic patients who had two CBCTs taken with an interval o...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-016-0130-0
更新日期：2016-11-10 00:00:00
abstract：BACKGROUND:To investigate the prognostic value of a three-dimensional dynamic quantitative analysis system to measure facial motion (3D ASFM) in acute facial palsy patients and compare it with subjective grading methods and electroneurography. METHODS:We continuously recruited 37 patients with acute (< 1 month) Bell's...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-020-00230-6
更新日期：2020-07-18 00:00:00
abstract：:We describe a case of adenomatoid odontogenic tumor (AOT) associated with odontoma occurring in the posterior mandible of a 32-year-old man. Although calcifications are commonly found in the AOT, the presence of rudimentary dental structures is a very rare phenomenon. Cases with similar aspects have been described as ...
journal_title：Head & face medicine
pub_type： 杂志文章,评审
doi：10.1186/1746-160X-9-20
更新日期：2013-08-09 00:00:00
abstract：OBJECTIVES:Simultaneous, radiation-free registration of the teeth and the upper and lower jaw positions in relation to the extraoral soft tissue could improve treatment planning and documentation. The purpose of this study is to describe a workflow to solve this form of registration and surface acquisition with a mobil...
journal_title：Head & face medicine
pub_type： 杂志文章
doi：10.1186/s13005-019-0212-x
更新日期：2019-11-25 00:00:00
