8 research outputs found

    Dental and maxillofacial signs in leri-weill dyschondrosteosis

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    International audienceOne of the most common causes of short stature is a defect of the short stature homeobox-containing (SHOX) gene, which is located in pseudoautosomal region 1 on the distal end of the short arm of chromosomes Xp22.33 and Yp11.32. More than 300 different mutations in the SHOX gene responsible for short stature syndrome have been described. The phenotypic expression of SHOX haploinsufficiency is remarkably varied. The 3 typical clinical presentations, from least to most severe, are idiopathic short stature without skeletal malformations, Leri-Weill dyschondrosteosis (LWD), and Langer mesomelic dysplasia, which is believed to represent the homozygous form of LWD. Despite a higher prevalence in women, suggesting the potentiating action of high estrogen levels on the effects of SHOX deficiency, the syndrome was initially believed to have an autosomal pattern of inheritance. In reality, heterozygous SHOX mutations can be transferred from the Y to the X chromosome and vice versa. This phenomenon is called "the jumping SHOX gene" and corresponds to a pseudoautosomal dominant inheritance. LWD is characterized by mesomelic short stature and Madelung deformity defined by an upward and medial displacement of the radial joint surface, which restricts range of motion. Less specific dysmorphic signs associated with LWD, such as short hands and feet, scoliosis, or muscular hypertrophy, have been described. When reviewing the dental and maxillofacial signs, only limited and summary data (micrognathia and high arched palate) have been published in the literature. This report presents a case of LWD that highlights many other noteworthy dental and maxillofacial signs that are important to clearly identify and appropriately treat

    Dental and maxillofacial signs in aarskog syndrome: a review of 3 siblings and the literature

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    International audienceDagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination.This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia.ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated

    Virtual Surgery Planning and Three-Dimensional Printing Template to Customize Bone Graft Toward Implant Insertion

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    International audiencePremaxillary tooth loss and bone deficiency or atrophy often occur in facial trauma. Onlay bone graft and implants have so far been the best means of restoring function and esthetic appearance. Void space between the graft and the jaw bone, over projection and mucosal trauma can cause mucosal dehiscence, bone exposure, or resorption and can compromise implant survival. Virtual surgical planning using 3-dimensional printing technology has improved the efficiency of craniofacial surgery. The drawbacks of this technology are its cost and time-consuming preparation. However, the democratization of high-performance 3-dimensional printing and open-source software have enabled surgeons to master the procedure. The authors applied this innovative technology to customize bone graft for insertion of a premaxillary implant. It enabled us to custom-make the bone graft on the template and to perfectly embed the graft in the gap with a reduce operating time and a good osteointegration

    Impairments in Food Oral Processing in Patients Treated for Tongue Cancer

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    Ectopic third mandibular molar: evaluation of surgical practices and meta-analysis

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    International audienceTo identify the preferred surgical approach (intra- or extra-oral) to remove an ectopic third mandibular molar (ETMM) according on its location and presence of an associated cyst or cutaneous fistula, and to determine the indications for a graft or osteosynthesis

    Mandible extensive intra osseous destructive lesion, a diagnostic challenge

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    International audienceIntraosseous verrucous carcinoma of the mandible is a rare situation often confused with chronic osteomyelitis. Despite the low aggressively of the tumor, prognosis is poor because of delayed diagnosis. We report 3 cases, from three different hospitals, initially diagnosed with a chronic osteomyelitis of the mandible after wisdom extraction. Imaging, bacteriological and histological samples supported each time this interpretation. The 3 patients worsened with intraosseous extension of the lesions and outflow of whitish and purulent debris. Only extensive resection with mandibulectomy allow the pathologists to identify the tumor. Adjuvant radiotherapy or radiochemiotherapy followed the surgery. One patient is in clinical remission. In front of mandible lesion resistant to antibiotic therapy and sequestrum resection, atypical squamous cell carcinoma must be evoked. MRI and CT-scan are not able to distinguish osteomyelitis and intraosseous verrucous carcinoma. Presence of whitish lysed and debris of keratin must draw the attention. Firm evidence must be provided to the pathologist but samples should be wide and thick

    Efficacy of pentoxifylline–tocopherol–clodronate in mandibular osteoradionecrosis

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    International audiencePENTOCLO treatment, associating pentoxifylline, tocopherol, and clodronate, resolves radiation-induced fibrosis. The main aim of the present study was to prospectively assess efficacy in mandibular osteoradionecrosis (ORN).4 Laryngoscope, 130:E559-E566, 2020
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