"Oris Duplicatio"-Duplication of the Oral Cavity a Rare Malformation in a 10-Month-Old Child: State of the Science and Management.

The authors report the case of a 10-month-old child with total oral duplication. The authors review this pathology and the diagnostic and treatment modality through the few cases described in scientific history. The discussed etiopathogeny of this rare malformation is detailed in this work.

Individual Response to Radiation of Individuals with Neurofibromatosis Type I: Role of the ATM Protein and Influence of Statins and Bisphosphonates.

Neurofibromatosis type 1 (NF1) is a disease characterized by high occurrence of benign and malignant brain tumours and caused by mutations of the neurofibromin protein. While there is an increasing evidence that NF1 is associated with radiosensitivity and radiosusceptibility, few studies have dealt with the molecular and cellular radiation response of cells from individuals with NF1. Here, we examined the ATM-dependent signalling and repair pathways of the DNA double-strand breaks (DSB), the key-damage induced by ionizing radiation, in skin fibroblast cell lines from 43 individuals with NF1.

First radiobiological characterization of the McCune-Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment.

Purpose: MacCune-Albright syndrome (MAS) is a rare autosomal dominant osteo-hormonal disorder. MAS is characterized by a severe form of polyostotic fibrous dysplasia, 'café-au-lait' pigmentation of the skin and multiple endocrinopathies. MAS was shown to be caused by mosaic missense somatic mutations in the gene coding for the alpha-subunit of the stimulatory G-protein.

Are Inferior Rectus Muscle Displacement and the Fracture's Size Associated With Surgical Repair Decisions and Clinical Outcomes in Patients With Pure Blowout Orbital Fracture?

Purpose: Although orbital blowout fractures are common, there is no consensus with respect to treatment decision making and long-term outcome. The purpose of this study was to evaluate the association between inferior rectus muscle (IRM) displacement and fracture size and the surgical repair decisions and clinical outcomes in patients with blowout fractures (BOFs).

Patients And Methods: We designed a prospective cohort study and enrolled all patients who presented to the University Hospital of Geneva for evaluation of a BOF.

Mandibular angle resection using cervicofacial lifting surgical approach: Technical note.

Facial feminization surgery brings a set of surgical procedures that address the three thirds of the face and aims to give feminine characteristics to a masculine face. The characteristics of the lower third of a male face are a long, broad chin, a prominent mandible with sharp angles (in connection with the insertions of the masseter muscles). Mandibular angle reduction is an important procedure of the male-to-female transformation.

Some mutations in the xeroderma pigmentosum D gene may lead to moderate but significant radiosensitivity associated with a delayed radiation-induced ATM nuclear localization.

Xeroderma Pigmentosum (XP) is a rare, recessive genetic disease associated with photosensitivity, skin cancer proneness, neurological abnormalities and impaired nucleotide excision repair of the UV-induced DNA damage. Less frequently, XP can be associated with sensitivity to ionizing radiation (IR). Here, a complete radiobiological characterization was performed on a panel of fibroblasts derived from XP-group D patients (XPD).

[Rhinophyma, management methods and oncological risk].

Rhinophyma is the most advanced stage of rosacea (stage IV). It is a benign lesion but aesthetically disabling. We present through a major case of rhinophyma and a review of the literature the diagnostic modalities, the therapeutic alternatives and the risks to be known.

Recurrent Maxillary Sinusitis and Periorbital Cellulitis Revealing an Unnoticed Medial Wall Orbital Fracture.

Unilateral recurrent maxillary sinusitis is a common sinunasal pathology, mostly related to the ostiomeatal complex dysfunction. Although sinusitis can potentially spread to the adjacent structures, orbital cellulitis remains an exceptionally rare sequela.The authors report the unusual case of a patient who presented with recurrent maxillary sinusitis complicated by cyclic episodes of periorbital cellulitis related to ostiomeatal complex obstruction from herniated periorbital fat through an unnoticed medial orbital wall fracture.

[Short osteotomy use in orthognathic surgery: benefit, disadvantage and perspective].

Introduction:  The short osteotomy was first reported by Blair in 1907 and was later described and characterized by Kater and Paulus in 2013. The technique involves an oblique supra-lingular osteotomy from internal to external, from top to bottom and from back to front. It is designed to divide the ramus into two segments, the joint and the mandibular body, and to ensure minimal valve equivalents.

Orbital Reconstruction by Patient-Specific Implant Printed in Porous Titanium: A Retrospective Case Series of 12 Patients.

Purpose: The purpose of this study was to evaluate the orbital patient-specific implant (PSI) directly printed in porous titanium for the reconstruction of complex orbital bone defects in a series of 12 patients.

Patients And Methods: The authors designed and implemented a case series. The sample consisted of patients with unilateral complex orbital bone loss.

Orbital Cavernous Hemangioma Causing Spontaneous Compressive Hemorrhage.

Cavernous hemangiomas are the most common tumors of the posterior cone of the orbit in adults. They are discovered in a fortuitous manner or in front of the appearance of a progressive exophthalmia.The authors report through a complete literature review (PubMed) patients of retro-orbital cavernous hemangioma revealed by spontaneous compressional hemorrhage from 1984 to 2017.

Radiobiological Characterization of Tuberous Sclerosis: a Delay in the Nucleo-Shuttling of ATM May Be Responsible for Radiosensitivity.

The tuberous sclerosis complex (TSC) syndrome is associated with numerous cutaneous pathologies (notably on the face), epilepsy, intellectual disability and developmental retardation and, overall, high occurrence of benign tumors in several organs, like angiofibromas, giant cell astrocytomas, renal angiomyolipomas, and pulmonary lymphangioleiomyomatosis. TSC is caused by mutations of either of the hamartin or tuberin proteins that are mainly cytoplasmic. Some studies published in the 1980s reported that TSC is associated with radiosensitivity.

Place of 3D printing in facial epithesis.

Facial rehabilitation from facial epithets is part of the facial surgeon's therapeutic arsenal. The primary technique requires taking imprints on the patient, which has major drawbacks such as discomfort and difficulties for precisely recording anatomical surfaces. In this paper, we present a technical improvement in the design of facial epithesis, introducing application of a 3D printing technology.

Giant Hemifacial Fibrous Dysplasia Functional Treatment and Place of Pamidronate.

The authors report the case of a 9-year-old child with severe form of hemifacial fibrous dysplasia. The authors review the pathology of this treatment modality through the case description and detail the place of pamidronate in the treatment of fibrous dysplasia.

[Facial feminization surgery - middle and inferior thirds].

The authors present the surgical techniques of facial feminization of the middle third and the inferior third in the context of sexual reassignment surgery. These techniques adapted to patients 'male to female' are proposed to strong masculine facial features of patients and are based in the middle third of the remodeling of the malar region by fat grafting, reduction and/or deprojection techniques in rhinoseptoplasty and upper lip surgery. Concerning the inferior third, remodeling of the mandibular angles, genioplasty and chondrolaryngoplasty are adapted.

[Facial feminization surgery - upper third].

The authors present the upper third of the facial feminization techniques in the context of transgender surgery. These techniques adapted to patients "male to female" are proposed to strong masculine facial features of the patients and for the upper third of the face, based on transfer of adipose tissue, fronto-orbital remodeling and correction of the hairline by scalp advance.

[Surgical approaches of tumors of the posterior cone of the orbit].

The surgical management of posterior orbital tumors is complex because it is an anatomical area located at the borders between the face and the skull base. The goal of the procedures carried-out in this area is to resect the tumor while preserving vision by using the safest possible approach. The aim of our work was to determine, in the light of our experience and of a review of the literature, the advantages and drawbacks of the numerous approaches described.

Costal Grafting in Mandibular Reconstruction.

Background: Reconstruction of mandibular bone defect is a common indication in craniomaxillofacial surgery, and free fibular flap is the gold standard for this indication. However, there are alternatives; nonvascular bone grafting is one of them, and we present the costal grafting for mandibular reconstruction, a classic technique that is reliable, efficient, and produced less morbidity than the technique of using composite free flaps.

Method: A 9-year retrospective review of 54 patients treated surgically for mandibular reconstruction was performed.

[Management of craniofacial type 1 neurofibromatosis].

Type I neurofibromatosis (NF) is the most common autosomal dominant disease. It concerns one in 3000 births, the penetrance is close to 100% and 50% of new cases are de novo mutations (17q11.2 chromosome 17 location).

[Upper eyelid congenital coloboma, aethiology pathogenesis and management].

Coloboma of the upper eyelid is a rare congenital disease. It is defined as an agenesis of the eyelid free edge. Multiple patho-physiological theories exist about its etiology.

[Reconstruction assisted by 3D printing in maxillofacial surgery].

Introduction: 3-dimensional models (3D) appeared in the medical field 20 years ago. The recent development of consumer 3D printers explains the renewed interest in this technology. We describe the technical and practical modalities of this surgical tool, illustrated by concrete examples.