Facial Anomalies Research Articles

Dentofacial characteristics of children and adolescents with foetal alcohol spectrum disorders: a comparison with matched controls

BackgroundFoetal alcohol spectrum disorders (FASD) include somatic and neurological developmental disturbances after prenatal alcohol exposure, including facial anomalies. However, the knowledge of the orthodontic skeletal and dental cephalometric relations in this group is limited. The aim of the study was to assess the dentofacial characteristics of children and adolescents with FASD and to compare them with a matched control group.MethodsThe study group comprised all available children and adolescents diagnosed with FASD (> 7 years of age) in whom good quality cephalograms were available. The control group comprised non-syndromic, orthodontically untreated children with normal occlusion and skeletal relations matched with age and gender. Cephalometric analysis included eighteen linear and angular measurements. The general linear model for repeated measures regarding age, gender and the type of FASD was applied.ResultsThe group with FASD included 35 individuals (21 girls and 14 boys) aged 7–18 years including 21 with foetal alcohol syndrome. The mean age in the study and the control group was 12.8 years (SD, range 3.2, 7.1–18.1) and 13.0 (SD, range 2.9, 9.1–18.1), respectively. Statistically significant differences between the groups were found in 15 out of 18 of the cephalometric measurements (83%). In children with FASD the mandible was more retrusive, the incisors were more proclined and the mandibular incisors and the lips were more protruded when compared with controls. There was no significant evidence of an influence of age, gender or FASD type.ConclusionsDentofacial characteristics of children and adolescents with FASD significantly differ from controls. Early orthodontic diagnosis and prophylaxis should play a part of the interdisciplinary care of patients in this group.

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.

Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive combined immunodeficiency. The detailed immune responses are not explored widely. We investigated known and novel immune alterations in lymphocyte subpopulations and their association with clinical symptoms in a well-defined ICF cohort. We recruited the clinical findings from twelve ICF1 and ICF2 patients. We performed detailed immunological evaluation, including lymphocyte subset analyses, upregulation, and proliferation of T cells. We also determined the frequency of circulating T follicular helper (cTFH) and regulatory T (Treg) cells and their subtypes by flow cytometry. There were ten ICF1 and two ICF2 patients. We identified two novel homozygous missense mutations in the ZBTB24 gene. Respiratory tract infections were the most common recurrent infections among the patients. Gastrointestinal system (GIS) involvements were observed in seven patients. All patients received intravenous immunoglobulin replacement therapy and antibacterial prophylaxis; two died during the follow-up period. Immunologically, CD4+ T-cell counts, percentages of recent thymic emigrant T cells, and naive CD4+ T decreased in two, five, and four patients, respectively. Impaired T-cell proliferation and reduced CD25 upregulation were detected in all patients. These changes were more prominent in CD8+ T cells. GIS involvements negatively correlated with CD3+ T-, CD3+CD4+ T-, CD16+CD56+ NK-cell counts, and CD4+/CD8+ T-cell ratios. Further, we observed expanded cTFH cells and reduced Treg and follicular regulatory T cells with a skewing to a TH2-like phenotype in all tested subpopulations. The ICF syndrome encompasses various manifestations affecting multiple end organs. Perturbed T-cell responses with increased cTFH and decreased Treg cells may provide further insight into the immune aberrations observed in ICF syndrome.

Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1

Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1

Clinical and Instrumental Temporomandibular Joint Evaluation in Children and Adolescents with Juvenile Idiopathic Arthritis: A Medium-Term Follow-Up

(1) Background: The aim of the study was to assess the potential effectiveness of clinical diagnostic examinations, such as muscle palpation, and instrumental examinations, such as electromyography, in the early detection of TMJ involvement in patients with juvenile idiopathic arthritis (JIA), as early diagnosis of these disorders can reduce the risk of developing facial growth anomalies and dento-skeletal malocclusions. (2) Methods: Evaluations were conducted on a cohort of 15 people with juvenile idiopathic arthritis (JIA) and a comparison group of 15 healthy participants at the start of the trial (T0) and after 18 ± 6 months (T1). Data were obtained through clinical examination, involving muscle palpation of the anterior temporalis, masseters, and sternocleidomastoids, and by instrumental analysis using electromyography. The parametric student’s t-test was used to evaluate group comparisons for data that were normally distributed, whereas the nonparametric Mann–Whitney U test was employed for parameters that did not follow a normal distribution. (3) Results: In the JIA group, higher levels of pain were recorded in the sternocleidomastoid muscles on both sides as compared to the control group (p < 0.05) at both T0 and T1. Electromyography revealed no statistically significant variances both in the JIA group and in the control group, except for the IMP index, characterized by a significant improvement over time for the JIA group. (4) Conclusions: According to the methodology employed in this study, all JIA patients had TMD symptoms, mainly muscle disorders. The existence of statistically significant parameters suggests the potential to regard muscle palpation and electromyography as predictive indicators of TMJ involvement in JIA subjects. Additional research is required to validate their reliability.

Surgically important neurovascular structures related to the submandibular gland. A cadaveric study

Introduction: The pathologies and procedures of the submandibular gland are numerous. Comprehensive knowledge of the anatomy and its relations of the SMG will avoid iatrogenic injuries within the submandibular triangle. This study assesses the presence and frequency of neurovasculature related to the SMG with special interest on the facial artery and the marginal mandibular nerve of cranial nerve (CN) VIIMethods: In twenty- five fresh cadavers, right and left side SMG (n=50) were dissected and observed in the department of Anatomy, faculty of Medicine, Ragama. Data were recorded on frequency of facial artery and postsynaptic sympathetic periarterial plexus and the marginal mandibular nerve of CN VII with relations to the SMG.Results: The majority 40/50 had the facial artery placed on the posterior surface of the SMG outside the capsule of the gland. Two of those specimens (2/10) had the e facial attires piercing through the parenchyma of the SMG. All facial artery anomalies were found to be present unilaterally, mostly on the right side and mainly among the females. 3/50 female cadaveric specimens had the marginal mandibular nerve of CN VII nerve traversing through the superficial part of the SMG. All of them were in the right side.Conclusions: The data indicate a higher rate of aberrant submandibular neurovasculature were on the right side with a female preponderance.

ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.

Parent-of-origin-dependent gene expression of a few hundred human genes is achieved by differential DNA methylation of both parental alleles. This imprinting is required for normal development, and defects in this process lead to human disease. Induced pluripotent stem cells (iPSCs) serve as a valuable tool for in vitro disease modeling. However, a wave of de novo DNA methylation during reprogramming of iPSCs affects DNA methylation, thus limiting their use. The DNA methyltransferase 3B (DNMT3B) gene is highly expressed in human iPSCs; however, whether the hypermethylation of imprinted loci depends on DNMT3B activity has been poorly investigated. To explore the role of DNMT3B in mediating de novo DNA methylation at imprinted DMRs, we utilized iPSCs generated from patients with immunodeficiency, centromeric instability, facial anomalies type I (ICF1) syndrome that harbor biallelic hypomorphic DNMT3B mutations. Using a whole-genome array-based approach, we observed a gain of methylation at several imprinted loci in control iPSCs but not in ICF1 iPSCs compared to their parental fibroblasts. Moreover, in corrected ICF1 iPSCs, which restore DNMT3B enzymatic activity, imprinted DMRs did not acquire control DNA methylation levels, in contrast to the majority of the hypomethylated CpGs in the genome that were rescued in the corrected iPSC clones. Overall, our study indicates that DNMT3B is responsible for de novo methylation of a subset of imprinted DMRs during iPSC reprogramming and suggests that imprinting is unstable during a specific time window of this process, after which the epigenetic state at these regions becomes resistant to perturbation.

Holoprosencephaly Alobar: Imaging Finding: A Case Report and Literature Review

Holoprosencephaly is a rare and a complex congenital brain malformation resulting from defective cleavage of the prosencephalon that occurs at 4 - 8th week of gestation and is usually associated with multiple cranio facial anomalies. It is the most common forebrain developmental anomaly in humans and a worldwide distribution. The etiology of HPE is very heterogeneous it has an extremely reserved fetal prognosis, particularly for the alobar form. Here, we report a case of holoprosencephaly alobar of a 24-day old boy, with microcephaly, flat nose, a single nostril, midline cleft lip palate and choanal atresia.

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene

BackgroundGills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported.Case presentationHere we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB). The patient’s CNV-seq testing revealed a de novo 320-kb deletion in the 9q34.3 region encompassing the EHMT1 gene.ConclusionsThis is the first case reporting Tourette-like syndrome secondary to KS1 with a de novo microdeletion in the EHMT1 gene. Our case suggests TS with ID and facial anomalies indicate a genetic cause and broadens the phenotypic and genotypic spectrum of both TS and KS1.

Germinal center output is sustained by HELLS-dependent DNA-methylation-maintenance in B cells

HELLS/LSH (Helicase, Lymphoid Specific) is a SNF2-like chromatin remodelling protein involved in DNA methylation. Its loss-of-function in humans causes humoral immunodeficiency, called ICF4 syndrome (Immunodeficiency, Centromeric Instability, Facial anomalies). Here we show by our newly generated B-cell-specific Hells conditional knockout mouse model that HELLS plays a pivotal role in T-dependent B-cell responses. HELLS deficiency induces accelerated decay of germinal center (GC) B cells and impairs the generation of high affinity memory B cells and circulating antibodies. Mutant GC B cells undergo dramatic DNA hypomethylation and massive de-repression of evolutionary recent retrotransposons, which surprisingly does not directly affect their survival. Instead, they prematurely upregulate either memory B cell markers or the transcription factor ATF4, which is driving an mTORC1-dependent metabolic program typical of plasma cells. Treatment of wild type mice with a DNMT1-specific inhibitor phenocopies the accelerated kinetics, thus pointing towards DNA-methylation maintenance by HELLS being a crucial mechanism to fine-tune the GC transcriptional program and enable long-lasting humoral immunity.

Screening newborns for low T cell receptor excision circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.

Assessment of T-cell receptor excision circles (TRECs) in dried blood spots of newborns allows the detection of severe combined immunodeficiency (SCID) (T cells <300/μL at birth) with a presumed sensitivity of 100%. TREC screening also identifies patients with selected combined immunodeficiency (CID) (T cells >300/μL, yet <1500/μL at birth). Nevertheless, relevant CIDs that would benefit from early recognition and curative treatment pass undetected. We hypothesized that TREC screening at birth cannot identify CIDs that develop with age. We analyzed the number of TRECs in dried blood spots in archived Guthrie cards of 22 children who had been born in the Berlin-Brandenburg area between January 2006 and November 2018 and who had undergone hematopoietic stem-cell transplantation (HSCT) for inborn errors of immunity. All patients with SCID would have been identified by TREC screening, but only 4 of 6 with CID. One of these patients had immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 (ICF2). Two of 3 patients with ICF whom we have been following up at our institution had TREC numbers above the cutoff value suggestive of SCID at birth. Yetall patients with ICF had a severe clinical course that would have justified earlier HSCT. In ICF, naïve T cells may be present at birth, yet they decline with age. Therefore, TREC screening cannot identify these patients. Early recognition is nevertheless crucial, as patients with ICF benefit from HSCT early in life.

Current concepts of vascular anomalies.

Vascular anomalies encompass a variety of malformations and tumors that can result in severe morbidity and mortality in both adults and children. Advances have been made in the classification and diagnosis of these anomalies, with the International Society for the Study of Vascular Anomalies establishing a widely recognized classification system. In recent years, notable progress has been made in genetic testing and imaging techniques, enhancing our ability to diagnose these conditions. The increasing sophistication of genetic testing has facilitated the identification of specific genetic mutations that help treatment decisions. Furthermore, imaging techniques such as magnetic resonance imaging and computed tomography have greatly improved our capacity to visualize and detect vascular abnormalities, enabling more accurate diagnoses. When considering reconstructive surgery for facial vascular anomalies, it is important to consider both functional and cosmetic results of the procedure. Therefore, a comprehensive multidisciplinary approach involving specialists from dermatology, radiology, and genetics is often required to ensure effective management of these conditions. Overall, the treatment approach for facial vascular anomalies depends on the type, size, location, and severity of the anomaly. A thorough evaluation by a team of specialists can determine the most appropriate and effective treatment plan.

Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings.

Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of this research was to assess and analyze the concordance between the antenatal imaging findings from second-trimester US screening and the results of fetal postmortem autopsy. Between January 2010 and January 2020, there were 43 cases where fetuses with prenatal ultrasound diagnosis of a face abnormality, associated or not with a genetic syndrome or chromosomal disorder, following intrauterine death (IUD) or termination of pregnancy (TOP) after the 13 weeks of pregnancy, underwent autopsy in the Pathological Anatomy section of Bari Polyclinic specializing in feto-placental autopsies. The diagnosis of the fetal facial defects at ultrasound was compared with the findings at autopsy in all cases. A very high level of agreement between prenatal ultrasound and autopsy findings was found for facial abnormalities associated with genetic syndromes or numerical abnormality of chromosomes. A lower level of concordance was instead found in isolated facial defects or those associated with other organ anomalies, but not associated with genetic syndrome or numerical chromosome anomaly. A detailed examination of aborted fetuses led to successful quality control of early-second-trimester ultrasound detection of facial anomalies; however, it was less accurate for the isolated ones. It is, thus, reasonable to propose a systematic early-second-trimester prenatal ultrasound screening for facial anatomy by operators specialized in fetal medicine field, using 2D, 3D, and 4D techniques (two-, three-, and four-dimensional ultrasound).

Clinical Characterization of Congenital Anophthalmic and Microphthalmic Cavities in Inidviduals With Craniofacial Anomalies.

Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). Descriptive, cross-sectional, retrospective study. Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of congenital anophthalmia or microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients ( P < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only 7 records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.

An analysis of factors affecting survival in prenatally diagnosed omphalocele.

To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies. A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size,content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed. Sixty-nine fetuses with omphalocele were included. The prevalence of omphalocele in livebirth was 0.007 %. Overall survival during the study period was 73.9 %.Twenty-eight (71.7 %) out of 39 cases with associated anomalies who were born live, survived, whereas survival was 85.7 % in the isolated cases. The most common anomaly associated with omphalocele were cardiac defects with 42 %; followed by placental or umbilical cord anomalies (28.9 %), skeletal defects (27.5), genitourinary anomalies (20.2 %), central nervous system (18.8 %) and facial anomalies (7.2 %), respectively. Eighty-five percent of the fetuses had at least one additional anomaly or ultrasound finding. Skeletal abnormalities and staged surgical repair of omphalocele were associated with survival. Associated skeletal anomalies and staged repair significantly increase the risk of postnatal death (OR: 4.6 95 % CI (1.1-19.5) and (OR: 10.3 95 % CI (1.6-63.9), respectively). Associated skeletal abnormalities and staged surgical repair are negatively associated with postnatal survival.

Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities.

Prenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia. The ultrasonographic features, associated anomalies, chromosome examination results and follow-up results of 81 fetuses with congenital microtia were analyzed retrospectively. Among the 81 fetuses with microtia diagnosed after birth, 2 cases were missed diagnosis on prenatal ultrasound, and 1 case was diagnosed as unilateral microtia by prenatal ultrasound but was found to be bilateral microtia after birth. Microtia was accompanied by an accessory auricle in 4 cases (4.94%) and low-set ears in 7 cases (8.64%). 22 cases (27.16%) were complicated with other structural anomalies, including 11 cases (13.58%) of cardiac anomalies, 7 cases (8.64%) of ultrasonographic soft marker anomalies, 6 cases (7.41%) of facial anomalies, 6 cases (7.41%) of nervous system anomalies, 3 cases (3.70%) of urogenital system anomalies, 3 cases (3.70%) of digestive tract anomalies and 2 cases (2.47%) of limb anomalies. Chromosome karyotype analysis and gene detection were performed in 44 cases. Trisomy 18, trisomy 13, trisomy 21, pericentric inversion of chromosome 9, partial loss of heterozygosity on chromosome 14, 22q11 microdeletion and a normal karyotype were found in 2 cases, 2 cases, 3 cases, 1 case, 1 case, 1 case, and 34 cases, respectively. In summary, microtia is often accompanied by congenital defects of other organs and structures, especially the heart and face, and prenatal ultrasound diagnosis of microtia and associated anomalies is of important clinical significance.

Larsen Syndrome and Associated Spinal Deformities.

Larsen syndrome is a rare genetic disorder that affects the connective tissue within the body. The present narrative review aims to examine the genetic basis of Larsen syndrome, clarify its symptoms, and define all the existing therapeutic approaches. A comprehensive search was performed in the PubMed database. Inclusion criteria considered molecular and clinical studies, management and surgical treatment of related deformities, case reports of patients with the syndrome, reviews of the associated anomalies, articles whose full text is available in PubMed, and articles published in the English language. Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton. Symptoms include joint dislocations, characteristic facial features and anomalies of the spine. Larsen syndrome may be conservatively treated initially, although surgical intervention is usually required. Various surgical techniques, including posterior spinal fusion, anterior decompression, circumferential arthrodesis, and single-stage 360° fixation, have been proposed along with growth-sparing procedures. Preoperative and postoperative care and education ensure optimal results. Further research is needed to identify novel therapeutic modalities for this condition.

Factors Associated With an Increased Risk of Facial Malformations.

Background Facial anomalies comprise a significant component of birth defects, with oral clefts being the second most common entity in this group. All organ systems within the body can be affected by congenital anomalies, mostly affecting the musculoskeletal system. Birth defects are among the leading causes of infant mortality and morbidity around the world. Objectives To find the factors associated with an increased risk of facial malformations so that steps for improving preventive measures can be taken. Methodology This was a cross-sectional study in which the data were collected from the files of infants admitted to the pediatric department. Data regarding the type of congenital anomaly, maternal investigations done during pregnancy, maternal history of medication, diabetes, hypertension, radiation exposure, smoking, and alcohol history, and family history of congenital anomalies was collected from the files of neonates and from the pediatrician. In the case of unanswered questions, the parent was contacted after 10 days with their consent. Results Of the sample size of 259 children (males: 132; females: 127), 68 (26%) had a cleft lip, 69 (27%) had a cleft palate, 110 (42%) had both cleft lip and palate, five (2%) had a cleft lip with nasal deformity, five (2%) had a cleft lip and palate with nasal deformity, and two (1%) had hypertelorism. Eight percent of neonates with craniofacial malformations had a family history of congenital malformations; 80.7% of neonates had a history of parental consanguinity; and 19.3% were unrelated. In regard to the mothers, 41.3% of the mothers had diabetes, 4% had hypertension, 4% had both gestational diabetes and hypertension, and 55% had neither of these diseases. Of the 55% of mothers with neither disease, 75% were married to their cousins, while 25% were not married within the family. Practical implications This study, highlighting the major factors contributing to the incidence of congenital facial malformations, will educate the community and establish awareness among the younger generation of the top causes of anomalies, therefore making a huge impact on increasing efforts to reduce the prevalence of congenital anomalies. Conclusion Defects of both the cleft lip and palate had the highest prevalence of facial malformations among study subjects (110 patients (42%)). Parental consanguinity is one of the leading factors associated with an increased risk of facial malformations.

Tracheostomy experiences in chronic respiratory failure after congenital heart surgery

Introduction&#x0D; A small number of children with repaired congenital heart defects may require a tracheostomy for ongoing ventilatory support. Congenital airway anomalies, laryngomalacia, postoperative airway complications and genetic syndromes associated with airway and facial anomalies, such as DiGeorge Syndrome (22q11 deletion), can be counted among the reasons why patients are unable to be weaned from the ventilator. In this study, we aimed to define the outcomes of patients who required a tracheostomy due to chronic respiratory failure after congenital heart surgery, and the existing risk factors for in-hospital and post-discharge mortality.&#x0D; Materials and methods&#x0D; The files of 1382 patients who underwent surgery due to CHD in the Pediatric Cardiovascular Surgery Clinic in ……………., between February 2019 and February 2023, were retrospectively scanned. Patients’ age, gender, body weight, cardiac diagnosis, surgical intervention, length of stay in the intensive care unit, number of extubation attempts, total length of stay on the ventilator, need for ventilator at discharge, rates of weaning from tracheostomy and time of weaning from tracheostomy and mortality rates, were obtained from patient files and hospital database.&#x0D; Results&#x0D; Tracheostomy was performed in 15 of 1382 patients who underwent surgery during the four year study period. Mean (SD) duration of ventilation prior to tracheostomy was 35 days (IQR= 19 – 47). The median follow up time in patients was 224 days (IQR=116-538). Three patients were decannulated and six had died. Causes of death in six patients included sepsis (2), cardiac instability (1), neurological complications (2) and pulmonary haemorraghia (1). &#x0D; The median time to discharge after tracheostomy in patients was 51 days (IQR= 33.50 – 147). &#x0D; Eight patients (53.3%) were discharged on home ventilation. Causes of deaths were often multifactorial for children who died during their initial hospital stay. Mortality was seen in six patients, a rate of 40%. &#x0D; Conclusion&#x0D; The need for tracheostomy after cardiac surgery plays an important role in early and late mortality in children. Ventilator-dependent chronic respiratory failure is the most common cause of childhood tracheostomies. We believe that determining the optimal timing for tracheostomy in the pediatric population will be effective in reducing prolonged ventilation and tracheostomy-related morbidities.

Tissue Engineering: Current Technology for Facial Reconstruction.

Facial reconstruction is a complex surgical process that requires intricate three-dimensional (3D) concepts for optimal functional and aesthetic outcomes. Conventional reconstruction of structural facial anomalies, such as those including cartilage or bony defects, typically rely on hand-carving autologous constructs harvested from a separate donor site, and shaping that cartilage or bone into a new structural framework. Tissue engineering has emerged in recent decades as a potential approach to mitigate the need for donor site morbidity while improving precision in the design of reconstructive construct. Computer-aided design and computer-aided manufacturing have allowed for a digital 3D workflow to digitally execute the planned reconstruction in virtual space. 3D printing and other manufacturing techniques can then be utilized to create custom-fabricated scaffolds and guides to improve the reconstructive efficiency. Tissue engineering can be paired with custom 3D-manufactured scaffolds to theoretically create an ideal framework for structural reconstruction. In the past decade, there have been several compelling preclinical studies demonstrating the capacity to induce chondrogenesis or osteogenesis in a custom scaffold. However, to date, these preclinical data have not yet translated into significant clinical experience. This translation has been hindered by a lack of consensus on the ideal materials and cellular progenitors to be utilized in these constructs and a lack of regulatory guidance and control to enable clinical application. In this review, we highlight the current state of tissue engineering in facial reconstruction and exciting potential for future applications as the field continues to advance.

Himi-Lengthening Genioplasty: A Modified Technique for the Correction of Mandibular Asymmetry.

Mandibular asymmetry is among the most common facial anomalies. Traditionally, mandibular asymmetry with malocclusion has been treated with orthognathic surgery and genioplasty. However, routine genioplasty cannot achieve a satisfactory contour. Hence, this study presents a modified technique, himi-lengthening genioplasty, to resolve this matter. By combining this technique with orthognathic surgery, the authors successfully corrected mandibular asymmetry in 1-stage surgery, achieved ideal occlusion, and reconstructed the esthetic contour. No complications occurred during the 6-month follow-up period. Therefore, the authors recommend our modified surgical technique for its effectiveness, security, stability, and simplicity.