Abstract:
:Oculodentodigital dysplasia (ODDD) is a rare, autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 (Cx43 or GJA1) gene. Described here is the case of a 10-year-old girl with enamel hypoplasia, typical facies and mental delay, initially thought to be related to an unknown metabolic disorder. Careful clinical re-evaluation revealed a type of ODDD, characterised by the predominance of facial and ophthalmological involvement with mandibular retrognathism, and by the absence of cutaneous hand or foot syndactyly. A novel single-sequence variation (Nt460A>G) in exon 2, resulting in the substitution of alanine for threonine at amino acid 154, was found. These findings confirm once again the highly variable phenotypic expression caused by Cx43 mutations.
journal_name
Int J Oral Maxillofac Surgjournal_title
International journal of oral and maxillofacial surgeryauthors
van Es RJ,Wittebol-Post D,Beemer FAdoi
10.1016/j.ijom.2007.03.004subject
Has Abstractpub_date
2007-09-01 00:00:00pages
858-60issue
9eissn
0901-5027issn
1399-0020pii
S0901-5027(07)00117-8journal_volume
36pub_type
杂志文章abstract::A case of a 63-year-old female who was reconstructed with an implant-supported nasal prosthesis following nasectomy is reported. The technique and advantages of this treatment modality are discussed. ...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2006.12.011
更新日期:2007-05-01 00:00:00
abstract::A case of salivary duct carcinoma arising in the submandibular region of an 83-year-old man is presented. Histologically, the tumour consisted of solid cell nests with ductal structures. Tumour cell nests showed central comedonecrosis. Immunohistochemically, the tumour cells were positive for keratin and epithelial me...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1054/ijom.2002.0343
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abstract::The aim of this retrospective study was to assess the clinical and aesthetic outcomes, and patient satisfaction, following dental implant therapy in cleft patients. Implant survival, changes in marginal bone level, pocket probing depths, plaque and bleeding indices, aesthetics, and patient satisfaction were assessed i...
journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2020.02.007
更新日期:2020-07-01 00:00:00
abstract::The aim of this retrospective study was to investigate the clinical characteristics of superolateral dislocation of the mandibular condyle, and to review our experience of its treatment. Thirteen patients were included in this study. Demographic information and details of their original injury were analyzed by descrip...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2013.05.023
更新日期:2013-12-01 00:00:00
abstract::An osteogenic inducer (OI) consisting of dexamethasone, vitamin C, and β-sodium glycerophosphate has the capacity to induce bone formation in vitro. The aim of this study was to assess the efficacy of the application of this OI on extraction socket healing. The bilateral first mandibular premolars were extracted from ...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2015.06.011
更新日期:2015-10-01 00:00:00
abstract::A simple and easy cryosurgical method to treat intraoral mucous cysts is described. Twelve female and six male patients, with mucous cysts on the lower lip and the tip of the tongue, were treated by direct application of liquid nitrogen with a cotton swab. Each lesion was exposed to four or five cycles composed of fre...
journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/s0901-5027(05)80666-6
更新日期:1993-12-01 00:00:00
abstract::Venous compromise is still the most common cause of free flap failure. The use of two venous anastomoses has been advocated to reduce venous compromise. However, the effectiveness of this approach remains controversial. A systematic review and cumulative meta-analysis was performed to assess the effect of one versus t...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.ijom.2018.01.006
更新日期:2018-05-01 00:00:00
abstract::Conflict exists with respect to the type of pleomorphic adenoma (PA) most likely to recur and whether the possibility of recurrence can be determined by the histology of the lesion. In this study, specific clinical, histological features and treatment modalities were examined in 53 intra-oral PA's with respect to thei...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/s0901-5027(89)80116-x
更新日期:1989-06-01 00:00:00
abstract::The effect of platelet-rich fibrin (PRF) in enhancing the healing after oral surgical interventions is still a matter of debate. The purpose of this study was to identify instances where PRF has been shown to be effective in oral surgical procedures. A comprehensive literature search was performed up to 2017 on PubMed...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,meta分析
doi:10.1016/j.ijom.2018.07.007
更新日期:2019-03-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,评审
doi:10.1016/j.ijom.2017.08.009
更新日期:2018-03-01 00:00:00
abstract::The aim of this study was to establish whether the pre-emptive use of lornoxicam (16mg) in third molar surgery ensures successful postoperative analgesia and reduces rescue analgesic intake when compared to postoperative application, and in comparison with placebo. Ninety patients were split randomly into three groups...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijom.2016.11.008
更新日期:2017-05-01 00:00:00
abstract::Bone necrosis secondary to radiation was previously attributed to trauma of devitalized bone and microbiological sepsis. However, conventional microbiological technique has failed to demonstrate microorganisms throughout osteoradionecrotic bone, claimed to be hypoxic, hypovascular and hypocellular. The aim of the pres...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2004.06.010
更新日期:2005-03-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2019.03.002
更新日期:2019-08-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/s0901-5027(05)80326-1
更新日期:1994-02-01 00:00:00
abstract::A case of intraoral molluscum contagiosum involving the right distal alveolar bridge of an immunocompetent person is reported. A review of the literature, with only five previously published cases, revealed that involvement of the oral soft tissues is rare. ...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,评审
doi:10.1016/j.ijom.2009.01.019
更新日期:2009-07-01 00:00:00
abstract::This study was performed to determine whether arthrocentesis therapy has different outcomes in three groups of patients with different temporomandibular disorders (TMDs). A clinical trial was conducted including 45 patients with 45 unilaterally affected joints divided into three groups (n=15): osteoarthritis (OA), dis...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2019.08.017
更新日期:2020-05-01 00:00:00
abstract::The purpose of this study was to estimate the effect of platelet-rich fibrin (PRF) on the control of alveolar osteitis (AO), pain, trismus, soft tissue healing, and swelling following mandibular third molar surgery. A comprehensive search of the literature was conducted through PubMed, Embase, Web of Science, and Coch...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,评审
doi:10.1016/j.ijom.2020.08.014
更新日期:2020-09-16 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 临床试验,杂志文章
doi:10.1016/s0901-5027(98)80040-4
更新日期:1998-12-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:
更新日期:1999-08-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2008.01.011
更新日期:2008-05-01 00:00:00
abstract::A retrospective study was undertaken to analyse the etiology, site and treatment procedures of 30 pathological fractures of the mandible. Fifty percent of the fractures had an inflammatory cause. The remaining cases were associated with severe atrophy of edentulous mandibles (4), benign tumours (3), cysts (3), and pri...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/s0901-5027(98)80007-6
更新日期:1998-06-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2020.11.004
更新日期:2020-11-25 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/s0901-5027(05)80392-3
更新日期:1990-08-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:1988-08-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/s0901-5027(97)80843-0
更新日期:1997-02-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2017.02.1275
更新日期:2017-06-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijom.2014.10.010
更新日期:2015-02-01 00:00:00
abstract::We describe a new temporomandibular joint (TMJ) arthrocentesis technique using the irrigation pump from a surgical and dental implant motor, providing the highest hydraulic pressure reported in the literature for TMJ lavage. ...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2008.11.005
更新日期:2009-01-01 00:00:00
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2014.11.009
更新日期:2015-03-01 00:00:00