Abstract:
:The purpose of this review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic approaches, to provide more concise information about the disease. An electronic search was undertaken in September 2019. Eligibility criteria included publications having enough clinical, radiological, and histological information to confirm the diagnosis. A total of 260 publications reporting 513 cherubism cases were included. Familial history was observed in 310/458 cases (67.7%). SH3BP2 mutations were reported in 101/108 cases (93.5%) and mainly occurred at protein residues 415, 418, 419, and 420. Retrospective clinical grading was possible in 175 cases. Advanced clinical grading was associated with tooth agenesis, but not with other clinical, radiological, and genetic features. Specific amino acid substitutions of SH3BP2 mutations were not associated with the clinical grading of the disease. 'Wait and see' was the most common therapeutic approach. In a small number of cases, drugs were used in the treatment, with variable response. In conclusion, there is no clear correlation between the genotype and the phenotype of the disease, but additional genomic and gene expression regulation information is necessary for a better understanding of cherubism.
journal_name
Int J Oral Maxillofac Surgjournal_title
International journal of oral and maxillofacial surgeryauthors
Chrcanovic BR,Guimarães LM,Gomes CC,Gomez RSdoi
10.1016/j.ijom.2020.05.021subject
Has Abstractpub_date
2021-01-01 00:00:00pages
43-53issue
1eissn
0901-5027issn
1399-0020pii
S0901-5027(20)30213-7journal_volume
50pub_type
杂志文章abstract::Macroglossia is observed in the majority of paediatric patients diagnosed with Beckwith-Wiedemann syndrome and surgical treatment may be indicated. A 20-year retrospective study was performed to evaluate all patients with Beckwith-Wiedemann syndrome who underwent tongue reduction surgery at the authors' institution. A...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,评审
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abstract::The selection of the superficial or deep drainage system for use with the radial forearm free flap (RFFF) remains controversial. The aim of this study was to identify the optimal drainage system for single venous anastomosis. A systematic review and cumulative meta-analysis was performed to assess superficial and deep...
journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2019.03.899
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,评审
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abstract::The purpose of this study was to evaluate hypoesthesia of the lower lip using trigeminal somatosensory-evoked potential following 2 types of sagittal split ramus osteotomy (SSRO) and intraoral vertical ramus osteotomy (IVRO). There were 30 patients with mandibular prognathism, with and without asymmetry, who were divi...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章,随机对照试验
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abstract::Oncocytoma is a rare salivary gland tumour consisting of oncocytes with many hyperplastic mitochondria. It usually occurs in the parotid gland. Because the features of oncocytoma resemble those of other benign and low-grade-malignant salivary gland tumours, clinical diagnosis is often challenging. This report presents...
journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2016.12.007
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 临床试验,杂志文章
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journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1054/ijom.2000.0049
更新日期:2001-06-01 00:00:00
abstract::Ectomesenchymal stem cells (EMSCs) originate from the cranial neural crest. They are a potential source of neuronal and Schwann cells (SCs) of the peripheral nervous system (PNS) during embryonic development. The third passage of EMSCs enzymatically isolated from the mandibular processes of Sprague-Dawley rats were cu...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2006.06.005
更新日期:2007-01-01 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/s0901-5027(96)80084-1
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2011.05.009
更新日期:2011-11-01 00:00:00
abstract::The purpose of this study was to systematically review all published cases of Gorham-Stout disease (GSD) involving the jaws and to identify the clinico-radiological and histopathological features associated with persistence of the lesions, as well as the best treatment options available. An electronic search was under...
journal_title:International journal of oral and maxillofacial surgery
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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,评审
doi:10.1016/j.ijom.2010.09.005
更新日期:2011-01-01 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.2017.11.010
更新日期:2018-05-01 00:00:00
abstract::Following bilateral alveolectomy, the ridge form was restored in 10 dogs with blocks of porous HA matrix and bicortical iliac autografts. The specimens were retrieved after 11 to 17 months and undecalcified sections were prepared for microscopy and histometry. Within the HA implants, bone ingrowth extended throughout ...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/s0901-5027(87)80059-0
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journal_title:International journal of oral and maxillofacial surgery
pub_type: 杂志文章
doi:10.1016/j.ijom.2011.04.019
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journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2014.01.016
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2007.12.009
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2004.01.010
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journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2009.10.010
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journal_title:International journal of oral and maxillofacial surgery
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doi:10.1016/j.ijom.2005.09.005
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journal_title:International journal of oral and maxillofacial surgery
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journal_title:International journal of oral and maxillofacial surgery
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abstract::Sentinel node navigation surgery (SNNS) has received considerable attention for its role in deciding whether to perform neck dissection in patients with early oral cancer. However, diagnostic accuracy and its intraoperative availability of results remain important concerns. First, we shortened the examination time req...
journal_title:International journal of oral and maxillofacial surgery
pub_type: 临床试验,杂志文章
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abstract::This report describes a rare case of recurrent head and neck desmoplastic neurotropic melanoma with perineural spread along the nervus mandibularis. An 87-year-old male presented with a rapidly growing mass on the right side of the chin, 4 years after surgical excision of a desmoplastic non-melanotic melanoma of the t...
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