Craniofacial deformity

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron...

Distraction osteogenesis (DO) is a reconstruction technique developed in the fields of oral and maxillofacial surgery and plastic surgery, addressing both vertical and horizontal bone deficiencies and enhancing soft tissue volume to facilitate subsequent dental implant placement. In this treatment method, devices are placed to stretch the bone gradually to stimulate the formation of new bone, effectively filling the existing defect to treat maxillofacial deformities or repair posttraumatic injuries. This case report presents an almost 20-year long-term follow-up of jaw defect reconstruction resulting from a gunshot injury, using DO with multiple distractors...

Eyelid malignancies are often resected in the entire layer, typically requiring anterior and posterior lamellae reconstruction. Posterior lamella reconstruction has been reported using grafts from the nasal septum, palatal mucosa, and auricular cartilage, which have advantages and disadvantages. The authors performed anterior and posterior lamellar reconstruction using a local skin flap and stripe-shaped anti-helical cartilage with the perichondrium in 3 total defect cases after basal cell carcinoma resection of the lower eyelid...

Fibrous dysplasia (FD), a developmental, nonfamilial, benign anomaly of bone development, is characterized by the replacement of normal bone by proliferating fibro-osseous tissue. Marked craniofacial deformities, functional disturbances, and emotional stress are major indications for treatment, and various surgical procedures have been performed; however, excision and regrowth issues have also been reported. While several treatment options are available, no studies have reported the natural history of untreated FD...

INTRODUCTION: Craniosynostosis is a birth defect defined as premature closure of sutures leading to possible neurological deficits and cosmetic deformities. Most of the current literature to date focuses on craniosynostosis etiology by analyzing genetics. This paper is a bibliometric analysis of the most influential works related to the clinical management of craniosynostosis to help guide clinicians in their decision-making. METHODS AND MATERIALS: Clarivate Web of Science database was used to identify the top 100 most-cited articles addressing the clinical management of craniosynostosis...

When searching over associations between congenital ear abnormalities, especially microtia and affiliated deformities like cleft lip or palate and congenital heart diseases, some clinical analysis and genetic theories are found. A 10-year-old boy sent to the plastic surgery hospital was puzzled by a congenital anterior auricular fistula with fluid trace for more than 9 years. The preoperative diagnoses were branchial cleft fistula and congenital left ear deformity with postoperation of TOF. By browsing over studies on genetic concerns and clinical performance, it may be attributed to a possible association between microtia, branchial cleft fistula, and tetralogy of Fallot, though whose fundamental mechanisms remain concerned...

PURPOSE: To summarize the clinical manifestations of craniofacial fibrous dysplasia (CFD) patients with ocular complications, and find effective methods to diagnose early. METHODS: Nine CFD patients with ocular complications, and their parents were recruited in this study. All patients underwent ocular and systemic examinations. Bone lesions from all patients and peripheral blood from patients and their parents were collected for whole exome sequencing (WES). According to the screening for low-frequency deleterious variants, and bioinformatics variants prediction software, possible disease-causing variants were found in multiple CFD patients...

Dog-ear deformity is a common protrusion defect of skin tissue after the closure of a surgical wound, affecting patients' appearance and quality of life. The common methods for correcting dog ears involve the removal of excess tissue in different directions or shapes after extending the incision along the long axis of the original wound. However, the literature regarding tissue preservation techniques for dog-ear correction is poor, especially for areas with insufficient skin tissue or high tension. The authors modified the original design of direct excisions, which transferred excess tissue from the horizontal axis of the wound to the longitudinal axis, thereby absorbing longitudinal tension and relieving linear scar contracture...

Combustion of mixed materials during open air burning of refuse or structural fires in the wildland urban interface produces emissions that worsen air quality, contaminate rivers and streams, and cause poor health outcomes including developmental effects. The zebrafish, a freshwater fish, is a useful model for quickly screening the toxicological and developmental effects of agents in such species and elicits biological responses that are often analogous and predictive of responses in mammals. The purpose of this study was to compare the developmental toxicity of smoke derived from the burning of 5 different burn pit-related material types (plywood, cardboard, plastic, a mixture of the three, and the mixture plus diesel fuel as an accelerant) in zebrafish larvae...

INTRODUCTION AND IMPORTANCE: Tessier Craniofacial Clefts Numbers 0 and 1 represent unique facial deformities, with Number 0 involving midline structure hypoplasia and Number 1 exhibiting features like a notched soft triangle and affected alar dome. These anomalies can extend near the midline, leading to complications like telecanthus, necessitating innovative surgical strategies for reconstruction. CASE PRESENTATION: A five-month-old girl presented with Tessier 0 and 1 clefts and a dorsal nasal lipoma, challenging traditional repair methods due to structural limitations...

Trigeminal neuralgia (TN) is characterized by sudden, brief intense pain in the distribution of the unilateral trigeminal nerve (TGN). Neurovascular compression (NVC) of the TGN is the most common cause of TN. Recent studies have suggested that a structural anomaly of the posterior cranial fossa might be involved in the development of TN, and several studies have documented the association between NVC-related TN and congenital posterior cranial deformities in adults. We present the case of a 56-year-old woman with NVC-related TN and unilateral lambdoid synostosis (ULS), along with a literature review, to investigate the relationship between TN and structural anomalies of the posterior fossa...

The induced bone generation procedure (osteogenic distraction [OD]) is frequently used in cases of jaw deformities in patients with, hemifacial microsomia, mandibular hypoplasia, and so on. This study was undertaken to provide criteria to perform this procedure. The authors evaluated the effects of various parameters using OD to determine the optimal variables. Sixty distractors were placed in 30 canine subjects who then underwent OD after appropriate osteotomy. The procedures were performed during varying latency periods, distraction periods, distraction rate distance, and the consolidation period...

BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457)...

Introduction  Lateral pharyngoplasty (LP) has shown promising results. Craniofacial deformity reduces the pharyngeal space, contributing to the etiopathogenesis. The analysis of craniofacial features can be performed using cephalometry. Objective  To verify if craniofacial deformity is associated with worse polysomnographic data in patients with obstructive sleep apnea (OSA), and to verify if the preoperative cephalometric parameters can interfere with the surgical success of the LP. Methods  The study included 21 patients with OSA aged between 18 and 65 years who underwent LP in a university hospital from 2015 to 2019...

BACKGROUND: Congenital ear anomalies are regular but often overlooked occurrences. The golden standard of treatment has been to surgically correct these anomalies at a minimum age of 5 to 7 years. As of the last century, ear molding has developed to be a safe, reliable, and effective treatment method. Different treatment methods are still under investigation. This study aims to investigate the use of the EarWell Infant Corrective System in the Dutch population. METHODS: Children aged 0-12 weeks were included in the Zuyderland Medical Center to be treated with the EarWell Infant Corrective System in case of ear deformations...

To determine the skeletal changes after midface surgery in patients with syndromic craniosynostosis who underwent Le Fort III (LFIII), monobloc (MB), or facial bipartition (FB). This was a retrospective study including 75 patients: 33 treated by LFIII, 29 by MB, and 13 by FB. Twenty-five had a diagnosis of Apert, 39 Crouzon, and 11 craniofrontonasal syndrome. A three-dimensional mesh was created from the preoperative scan and registered to the postoperative scan to visualise the advancement. LFIII at age 7-12 years effectuated a higher mean advancement in the maxillary (15...

Cranial reconstructions are essential for restoring both function and aesthetics in patients with craniofacial deformities or traumatic injuries. Titanium prostheses have gained popularity due to their biocompatibility, strength, and corrosion resistance. The use of Superplastic Forming (SPF) and Single Point Incremental Forming (SPIF) techniques to create titanium prostheses, specifically designed for cranial reconstructions was investigated in an ovine model through microtomographic and histomorphometric analyses...

Cleft lip and palate (CLP) is a prevalent congenital craniofacial deformity that can be unilateral or bilateral. This case report highlights the interdisciplinary approach to managing a 24-year-old male with unilateral CLP (UCLP), emphasizing the complexity of associated dental and skeletal challenges. The patient had undergone multiple surgeries, including lip closure at three months, palate repair at seven years, and alveolar bone grafting at 12 years. Clinical assessments revealed a retruded maxilla, an absence of lateral incisors, and scars from previous surgeries...

At present, stock linear distractors are used for internal maxillary distraction osteogenesis. However, the authors' research group has demonstrated, through an in silico analysis, that linear distraction leads to bone deformities and malocclusion, whereas helical distraction can yield ideal outcomes. A system for designing and manufacturing custom helical distractors has recently been developed, and the feasibility of these appliances now needs to be assessed. This study was, therefore, conducted to gain an initial insight into their feasibility...

Metallic bioresorbable orthopaedic implants based on magnesium, iron and zinc-based alloys that provide rigid internal fixation without foreign-body complications associated with permanent implants have great potential as next-generation orthopaedic devices. Magnesium (Mg) based alloys exhibit excellent biocompatibility. However, the mechanical performance of such implants for orthopaedic applications is contingent on limiting the rate of corrosion in vivo throughout the bone healing process. Additionally, the surgical procedure for the implantation of internal bone fixation devices may impart plastic deformation to the device, potentially altering the corrosion rate of the device...