Complex Craniofacial Anomalies Research Articles

European Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO).

A European guideline on Robin Sequence was developed within the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat disorders. The guideline provides an overview of optimal care provisions for patients with Robin Sequence and recommendations for the improvement of care.

A Photo Score For Aesthetic Outcome In Sagittal Synostosis: An ERN CRANIO Collaboration.

European Reference Network (ERN) CRANIO is focused on optimizing care for patients with rare or complex craniofacial anomalies, including craniosynostosis and/or rare ear, nose, and throat disorders. The main goal of ERN CRANIO is to collect uniform data on treatment outcomes for multicenter comparison. We aimed to develop a reproducible and reliable suture-specific photo score that can be used for cross-center comparison of phenotypical severity of sagittal synostosis and aesthetic outcome of treatment. We conducted a retrospective study among nonsyndromic sagittal synostosis patients aged <19 years. We included preoperative and postoperative photo sets from 6 ERN CRANIO centers. Photo sets included bird's eye, lateral, and anterior-posterior views. The sagittal synostosis photo score was discussed in the working group, and consensus was obtained on its contents. Interrater agreement was assessed with weighted Fleiss' Kappa and intraclass correlation coefficients.The photo score consisted of frontal bossing, elongated skull, biparietal narrowness, temporal hollowing, vertex line depression, occipital bullet, and overall phenotype. Each item was scored as normal, mild, moderate, or severe. Results from 36 scaphocephaly patients scored by 20 raters showed kappa values ranging from 0.38 [95% bootstrap CI: 0.31, 0.45] for biparietal narrowness to 0.56 [95% bootstrap CI: 0.47, 0.64] for frontal bossing. Agreement was highest for the sum score of individual items [intraclass correlation coefficients agreement 0.69 [95% CI: 0.57, 0.82]. This is the first large-scale multicenter study in which experts investigated a photo score to assess the severity of sagittal synostosis phenotypical characteristics. Agreement on phenotypical characteristics was suboptimal (fair-moderate agreement) and highest for the summed score of individual photo score items (substantial agreement), indicating that although experts interpret phenotypical characteristics differently, there is consensus on overall phenotypical severity.

Congenital Mandibular Hypoplasia: Patient-Specific Total Joint Replacement as a Line Extension in the Treatment of Complex Craniofacial Anomalies

IntroductionCongenital mandibular hypoplasia (CMH) remains challenging because of the underlying combined hard and soft tissue deficiency. Treatment options include craniofacial distraction, orthognathic surgery, and autologous grafts, although the latter produces inadequate results after distraction and autologous grafting. Unsatisfactory long-term stability may cause relapse, necessitating reoperation.Material and MethodsWe investigated the feasibility of using alloplastic total joint replacement (TJR) in growing and young adult CMH patients. The primary outcome was long-term reconstruction stability, without implant failure. Secondary outcomes were TMJ function and pain, and jaw movements achieved during surgery.ResultsThree patients (age: 9–22 years) were treated by the same surgeon at one institution during 2018–2021. Anamnesis and clinical parameters were obtained from patient records. Preoperative 3D-scans were superimposed with postoperative 3D-scans and preoperative plans, including TJR-implant STL files, to measure jaw movement. All patients underwent prior reconstructive surgery. Mandibular movement of 16.4–20.1 mm in the sagittal direction was achieved. Post-TJR follow-up ranged from 24 to 42 months. No long-term complications occurred. At the latest follow-up, the maximal interincisal opening was between 21 and 40 mm, and all implants were functioning, without failure.ConclusionIn selected CMH cases, alloplastic TJR can deliver satisfactory medium-term results with predictable and stable outcomes, even in growing patients.

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay

Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes. However, this Down Syndrome Critical Region (DSCR) contains multiple genes, making identifying a single causative gene difficult. Here, we report a case of a boy with bicoronal craniosynostosis, facial dysmorphism, developmental delay, and intellectual impairment who was found by whole genome sequencing to have a homozygous missense mutation in the Single-Minded Homolog 2 (SIM2) gene (c.461 A > G, p.Tyr154Cys) within the DSCR. SIM2 encodes an essential bHLH and PAS domain transcription factor expressed during fetal brain development and acts as a master regulator of neurogenesis. This variant is globally very rare, segregates in the family, and is predicted to be highly deleterious by in silico analysis, 3D molecular modeling of protein structure, and functional analysis of zebrafish models. Zebrafish expressing the human SIM2p.Y154C variant displayed a progressed microcephaly-like phenotype and head shape abnormalities. When combined with careful phenotyping of the patient vis-à-vis previously reported cases harboring structural variants in this critical 21q22 region, the data support a pathogenic role of SIM2 in this complex syndrome and demonstrates the utility of next-generation sequencing in prioritizing genes in contiguous deletions/duplications syndromes and diagnosing microarray-negative patients in the craniofacial clinic.

European Guideline on Craniofacial Microsomia: A Version for Patients and Families.

A European guideline on craniofacial microsomia was developed within the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat disorders and published in 2020. The guideline provides an overview of optimal care provisions for patients with craniofacial microsomia and recommendations for the improvement of care. This document seeks to provide a tailored overview of this guideline for patients and their families.

Introduction to IJOHS

It gives me great pleasure to write the foreword for the inaugural issue of the International Journal of Orofacial and Health Sciences (IJOHS). The field of orofacial and health sciences is not static and the demand for studies addressing the large variety of current issues continues to grow. As an example, in medicine and dentistry, the planning and evaluation of maxillofacial surgery are dependent on advances in biomedical imaging for defining the underlying bony structures and their relationship to overlying soft tissue. Recently, the availability of state-of-the-art computed tomography (CT) has altered our approach to the analysis of complex craniofacial anomalies. Furthermore, the sophistication of medical imaging of the head and neck has advance significantly as a result of the marriage of computers and radiology and their close research collaboration between researchers and scientist, engineers and clinicians. In view of this demand and the fact that numerous research findings published, there is a need for this journal, aims to bring together dentist, doctors and scientists, and other disciplines including computer expert and engineers to work together. Therefore, this journal hopes to create a medium for sharing ideas and importantly to provide a springboard for the application of multi-disciplinary and trans-disciplinary approaches with the common interest to share their knowledge and experience in many aspects of orofacial and health sciences. In addition to recognize, nurture and encourage scientific thinking that is required for the development and application of expanding biomedical knowledge and to foster scholarly interaction between them therefore contributing to the creation and improvement of sciences.IJOHS is proud to launch its inaugural issue to keep informed of the activities and progress made. The editorial team believed that IJOHS will become the important source for the continuous research and commentary by offering an exceptional forum for the ongoing activities of the above professionals and to keep abreast of current trend and future developments. We look forward to working together to achieve this important goal. May I also take this opportunity to extend my grateful thanks to the Dean of the Kulliyyah of Dentistry, Dr. Salwana Supa’at for electing me as Chief Editor.

Distraction Osteogenesis Part 1: History and Uses in the Craniofacial Region

Abstract: Distraction osteogenesis (DO) is a method of biologically creating new bone between surgically cut bone surfaces that are separated in a controlled manner by incremental traction. DO can be used in the craniofacial region to manage developmental and acquired deformity resulting from trauma and pathology. This article aims to outline the history and theory that underpins this technique, with a review of its application in the craniofacial region. A second article will discuss the technical aspects of DO and the role of the interdisciplinary team. Clinical Relevance: This report is relevant to all orthodontists providing care to patients with complex craniofacial anomalies that require distraction osteogenesis. The scope for application of the technique is described and we aim to provide guidance for clinicians when assessing potential cases for their suitability.

Hereditary characteristic of isolated congenital vomer aplasia

Malformation of the inner nose is often found in conjunction with different types of cleft palate or may be seen with severe and complex craniofacial anomalies. Among such malformations, however, isolated vomer aplasia is rarely reported in the literature. This study sets forth our findings that congenital vomeral defect of the nasal septum is an isolated disorder with hereditary characteristics.Between 2001 and 2009, nine cases of isolated congenital vomeral bone defect were detected on endoscopic examination of patients referred to our clinic with nasal and otologic complaints. The files of these patients were reviewed and vomer aplasia was identified as an isolated hereditary condition with concomitant sinonasal symptoms.The defect of the posteroinferior part of the nasal septum was defined as a genetic disease presenting with no significant medical problems. Chromosomal analysis of these patients may help to reveal the relationship of this anomaly with different malformations of the maxillofacial complex.

Holoprosencephaly and holoprosencephaly‐like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

Holoprosencephaly (HPE) is genetically heterogeneous. Variable phenotypic manifestations within families with normal and affected patients have been attributed to the number and type of HPE gene mutations. Environmental agents may also contribute to the severity as well as the requirement of multiple hits. Clinical expression is extremely variable ranging from minor facial signs to complex craniofacial anomalies such as cyclopia. Main genes involved include SHH, GLI2, PTCH1, TGIF, ZIC2, TDGF1, SIX3; however, several other candidates have been proposed. Recently it was established that the human growth arrest specific gene 1 (GAS1) is a potential locus for several human craniofacial malformations. Here, we report on four Brazilian patients with GAS1 DNA sequence change who presented variable phenotypical manifestations ranging from classic HPE to HPE-like signs. Two patients had single DNA sequence change in the GAS1 gene, while in other two, an additional mutation in the SHH gene was observed. Clinical manifestations presented by these patients suggest that GAS1 could be considered a candidate locus for one of the types of human HPE.

Use of Rigid External Distraction Device in Treatment of Complex Maxillofacial Fractures

Collapse of maxillofacial skeletal structures after trauma results in inadequate anteroposterior projection and increase in facial width with deformed facial aesthetics and various functional problems. After successful use of rigid external distractor for treatment of congenital facial hypoplasia, they have been used for treating more complex craniofacial anomalies. Six patients with posttraumatic orbitozygomaticomaxillary deformity were managed with intraoperative and/or postoperative use of rigid external distractor device. All the patients maintained the early postoperative aesthetic and functional results in their follow-up period. All patients that the device kept applied in postoperative period tolerated the device. There were no complications related to use of rigid external distractor. Rigid external distractor device is a useful instrument in management of traumatic facial deformities and can be used (1) in controlled traction for reduction of impacted bony segments, (2) as external fixator to decrease the number of plates for fixation, (3) to overcome the soft tissue tension over bony structures to enable the use of smaller screw-plate systems, and (4) for fine adjustment of bony segments after operation depending on the needs of the case demonstrated with postoperative control computed tomographies.

The orthodontist and complex craniofacial anomalies

The orthodontist and complex craniofacial anomalies

A double standard in double degree

A double standard in double degree

THREE-DIMENSIONAL IMAGING, SURGICAL PLANNING, AND IMAGE-GUIDED THERAPY

Three-dimensional imaging is now widely available and used often to aid in the comprehension and application of volumetric data to diagnosis, planning, and therapy. CAS comprises visualization of complex anatomy, planning of interventions, image-based guidance for diagnosis and therapy, evaluation of results, and follow up. CAS-networked workstations have interactive pointing devices and specialized software that support simulation, navigation, and follow-up functions. Volumetric and real time digital imaging are used to plan procedures, for intra-operative guidance, and to monitor progress. Monitoring with real time ultrasound, fluoroscopy, and MR imaging is performed to assess local effects of specific therapeutic modalities. Normative data bases, especially digital stereotactic atlases, allow incorporation of a priori anatomic knowledge in CAS. Computer-assisted planning and simulation of complex craniofacial surgery is feasible with commercially available software and hardware using CT scan and MR images. This can be performed by an operator with low-level computer skills on a graphics workstation. The outcome of computer-simulated surgery can be validated quantitatively. Computer-simulated surgery does affect the choice of intervention for patients with complex craniofacial anomalies. Further evaluation of the process is needed to determine the influence of surgical simulation and planning on outcome.

Syndromes associated with simple calvarial and complex craniofacial anomalies

Central nervous system (CNS) development is a complex process of predetermined events that must occur in an ordered sequence to ensure normal ontogenesis. Various critical steps take place in a relatively short time (from the first few days to the first months of gestation). Both genetic and environmental insults may produce morphological defects. Early defects often result in nonviable embryos; later, complex craniofacial anomalies, mainly associated with brain damage, may be observed. The pathogenesis of congenital malformations is heterogeneous; sporadic cases are reported as well as recessive or dominant inheritance and chromosomal aberrations. Some of these syndromes have been identified as contiguous gene syndromes; the role of critical chromosomal regions and homeobox genes is discussed. Furthermore, these conditions present difficulties in regard to early diagnosis, surgical repair, and social impact.