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This case report describes the findings of craniofacial anomalies associated with dystocia in a mixed‐breed bitch. A bitch in labour was presented for evaluation of dystocia, and an emergency caesarean section was performed. Two pups with craniofacial abnormalities were delivered by hysterotomy. One pup was stillborn, with congenital anomalies including palatoschisis (cleft palate), cheiloschisis (cleft lip), an open fontanelle, and a narrow teardrop‐shaped skull. The second pup was delivered alive and had cheiloschisis. Craniofacial malformations are a reported cause of dystocia in the dog, usually due to obstruction. However, dystocia in the reported case is presumed to have developed because the pup's craniofacial malformations prevented stimulation of uterine contractions. To the authors' knowledge, this is the first case report to describe craniofacial abnormalities affecting 100% of the litter and is the first known report to describe the relationship between craniofacial abnormalities and presumptive primary uterine inertia. [ABSTRACT FROM AUTHOR]

Background and Objectives: Cleft lip alone or a combination of cleft lip and palate (CLP) is a common developmental abnormality in the craniofacial region. This umbrella review aims to identify promising avenues for treatment using stem cell therapy. Materials and Methods: Systematic reviews from 2014 to 2024 were searched among databases like PubMed, Medline, and Google Scholar. PRISMA guidelines were employed to ensure the thoroughness of the search. A quality assessment (ROBIS) of the included reviews was conducted to ensure the reliability and validity of the synthesized evidence. Results: Five systematic reviews were selected for this umbrella review. Results show that stem cell therapy, specifically using mesenchymal stem cells (MSCs) and adipocyte stem cells (ADSCs), promotes bone regeneration in CLP deformities. Although multiple studies have established the effectiveness of diverse types of stem cells in treating CLP, important considerations including safety concerns, methodological variability, and the need for standardization have been identified. The fact that the number of relevant systematic reviews that matched our inclusion criteria was limited could affect this research's robustness and may limit the breadth and depth of evidence synthesis. Definitive conclusions could not be reached due to variation among treatments and outcomes. Conclusions: The examined studies highlight the potential of stem cell therapy as a complementary approach to existing treatments for CLP. However, there are challenges that need to be addressed, including concerns regarding safety, variations in methodologies, and the need for standardization. Exploring the potential of other stem cell types may further enhance treatment outcomes for CLP patients. [ABSTRACT FROM AUTHOR]

Background: Visualizing (micro)vascular structures remains challenging for researchers and clinicians due to limitations in traditional radiological imaging methods. Exploring the role of vascular development in craniofacial malformations in experimental settings can enhance understanding of these processes, with the effectiveness of high-resolution imaging techniques being crucial for successful research in this field. Micro-CT imaging offers 3D microstructural insights, but requires contrast-enhancing staining agents (CESAs) for visualizing (micro)-vascular tissues, known as contrast-enhanced micro-CT (CECT). As effective contrast agents are crucial for optimal visualization, this review focuses on comparative studies investigating such agents for micro-vascular tissue imaging using micro-CT. Furthermore, we demonstrate the utilization of B-Lugol solution as a promising contrast agent for acquiring high-quality micro-CT images of (micro)vascular structures in human embryonic samples. Method: This scoping review followed Preferred Reporting Items for Systematic Reviews and Meta-analysis Protocols. PubMed database provided relevant articles, screened initially by title and abstract. Inclusion and exclusion criteria defined outcomes of interest. Results: From an initial search, 273 records were identified, narrowed down to 9 articles after applying our criteria. Additionally, two articles were added through citation searching. This, a total of 11 articles were incorporated in this study. Conclusion: This micro-CT contrast agent review underscores the need for tailored choices based on research goals. Both Barium sulfate and Iodine-based agents showing excellent results, providing high resolution (micro) vascular content, especially in ex-vivo specimens. However, careful consideration of protocols and tissue characteristics remains imperative for optimizing the effectiveness of micro-CT imaging for the study of cranio-facial vascular development. [ABSTRACT FROM AUTHOR]

This study aimed to document the prevalence, severity, and risk factors of velopharyngeal dysfunction (VPD) in craniofacial microsomia (CFM) and to analyse differences in VPD-related speech characteristics between CFM patients without cleft lip and/or palate (CL/P), CFM patients with CL/P, and CL/P patients without CFM (control). A total of 223 patients with CFM were included, of whom 59 had a CL/P. Thirty-four CFM patients had VPD, including 20 with a CL/P. VPD was significantly more prevalent in CFM with CL/P than in CFM without CL/P (odds ratio (OR) 4.1, 95% confidence interval (CI) 1.9–8.7; P < 0.001). Multivariate logistic regression showed a significant association between CL/P and VPD in CFM patients (OR 7.4, 95% CI 2.1–26.3; P = 0.002). The presence of VPD was not associated with sex, the laterality or severity of CFM. Speech problems related to VPD appeared to be similar among the different groups (CFM without CL/P, CFM with CL/P, CL/P without CFM). As 15.2% of all CFM patients and 8.5% of CFM patients without CL/P had VPD, it is proposed that all patients with CFM, with or without CL/P, should be assessed by a speech and language therapist for the potential risk of VPD. [ABSTRACT FROM AUTHOR]

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. The study had two goals. First, it aimed to demonstrate, in an in vitro model, that the novel system of custom helical distraction can produce appropriate clinical outcomes. The second aim was to compare the performance of custom helical distractors with that of stock devices and hybrid devices (i.e., linear appliances that feature patient-specific footplates). Interpreting the results as trends, this study showed that the system of custom helical distraction resulted in in vitro outcomes that were superior to those obtained with stock and hybrid devices. [ABSTRACT FROM AUTHOR]

Objective: To evaluate a method of measuring the change in palatal length and shape following maxillary advancement using synchronous lateral videofluoroscopy and voice recording in order to understand how movement of the maxilla may affect VPI risk in patients with cleft lip and/or palate (CL/P). Design: Retrospective cohort study of children with cleft lip and/or palate. Setting: Single center, tertiary children's hospital. Participants: Patients with cleft lip and/or palate who underwent maxillary advancement between 2016–21 inclusive. Interventions: Maxillary advancement surgery, including those who underwent concurrent mandibular procedures. Main outcome measures: The length of the soft palate and the genu angle were measured throughout palatal dynamic range. Pre- and post-operative measurements were compared using a one sided T-test, with subgroup analysis for patients with clinical VPI. Results: Ten patients were examined. The mean distance of maxillary advancement was 10.5 mm. The average increase in pre-genu soft palate length was 2.8 mm in the resting position and 2.9 mm in the closed position. The genu angle decreased in the closed position by 16.3 degrees. Conclusions: The soft palate showed limited ability to lengthen following maxillary advancement and this may explain the risk of VPI. There was partial compensation by the muscle sling of the palate as demonstrated by a more acute post-operative genu angle and this suggests one reason for the variability of VPI reported. Future research is required to investigate how length and shape changes measured using this method can predict VPI risk. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the applicability of transplanted teeth in young patients with craniofacial anomalies Design: Observational study Setting: Comprehensive Centre for Cleft Palate and Craniofacial Malformations Patients/Participants: Patients with craniofacial anomalies who underwent tooth transplantation. Only children with complete clinical and radiological documentation and a follow-up period of at least 1.5 years were included. Interventions: Tooth transplantation Main Outcome Measure(s): Retrospective evaluation of clinical records, pre- and postoperative radiographs, and operative charts. Clinical characteristics of patients, preoperative parameters and postoperative outcome parameters were collected. Results: A total of 17 patients with 23 tooth transplantations were included. The median follow-up period was 6.7 years. The pooled survival and success rates were 91%. Notably, one out of two teeth that were transplanted into the bone grafted alveolar cleft site had to be extracted, which might indicating a higher risk for this procedure. In total, two transplanted teeth had to be extracted during the follow-up period, one due to external resorption and the other one due to perio-endo lesion. One patient needed endodontic treatment due to pulp necrosis. Conclusion: We consider tooth transplantation to be a reliable and suitable procedure in the dental rehabilitation of young patients with craniofacial anomalies and fitting concomitant circumstances. We encourage craniofacial teams to reconsider this option more frequently in appropriate cases. [ABSTRACT FROM AUTHOR]

Background: Parameningeal rhabdomyosarcoma (PM-RMS) is a rare and aggressive soft tissue malignancy that primarily occurs in the head and neck region. The standard treatment approach for RMS involves a multimodal therapy regimen, which includes surgery, chemotherapy, and radiotherapy. However, the routine use of radiotherapy and chemotherapy in young patients with RMS in the head and neck region can lead to adverse effects on dental development and thereby, pose a challenge in planning dental intervention. Case presentation: This case report outlines the dental and facial developmental consequences in a 13-year-old child, who received chemo-radiotherapeutic intervention at the age of 7 years for the management of PM-RMS. Following treatment, the child exhibited significant dental complications, including arrested root growth and restricted mouth opening. Conclusions: This case highlights the necessity for interdisciplinary collaboration between oncologists, dentists, and other healthcare professionals to mitigate the adverse effects on dental health and overall quality of life in patients undergoing chemo-radiotherapy for rhabdomyosarcoma. [ABSTRACT FROM AUTHOR]

SATB2‐associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2−/− mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well‐described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues. [ABSTRACT FROM AUTHOR]

Objective: The objectives of this study were to assess the oral health status and parental perception of oral health needs of pediatric patients in an urban Craniofacial Center. Design: This research utilized a prospective cross-sectional matched study design. The data was collected prospectively via clinical oral examinations measuring dental caries experience and gingival health status. Parental perception of oral health was assessed through a validated questionnaire. Setting: The study was conducted at a Pediatric Dentistry Department and Craniofacial Center (CFC) in a large urban American city. Patients/Participants: Participants were recruited and enrolled from a CFC and Pediatric Dental Clinic. Main Outcome Measure(s): The outcome measures were the oral health status and parental perception thereof. Results: CFC patients' caries experience in primary teeth was significantly lower than that of a healthy matched cohort, but statistically similar in permanent teeth. CFC patients had significantly higher unmet dental treatment needs. CFC patients had poor oral hygiene and were shown to have significantly higher plaque levels and worse gingival health than that of a healthy matched cohort. Parental perception of oral health did not show a statistically significantly difference between the two groups. Conclusions: Patients in our study in an urban CFC were found to have a high unmet dental and poor oral hygiene. Despite the poor oral health status, parents of children with craniofacial anomalies did perceive their oral health as different from a matched cohort of patients without these conditions. [ABSTRACT FROM AUTHOR]

Objective: Posterior cranial distraction (PCD) is a surgical technique to address craniosynostosis, especially in syndromic patients. The technique has the ability to significantly expand the cranium, while requiring minimal dural dissection, compared to cranial remodeling. Our goals were to determine the patient characteristics and surgical outcomes of PCD. The two questions that we sought to answer were: 1) What is the average published complication rate and the most common complications of PCD? and 2) How much intracranial volume expansion can one expect with PCD? Design: A PubMed database search of articles on PCD was performed. Case reports and articles with overlapping patients were excluded. A systematic review was performed using the remaining articles. Main Outcome Measures: Patient data were extracted in order to determine the total number of patients, patients with a syndrome, types of syndromes, mean age at surgery, mean distraction distance, mean increase in intracranial volume, and complications. Results: 18 articles representing 325 patients were analyzed. A syndrome was present in 68.6% of patients. The mean age at time of surgery was 22.1 months. Mean distraction amount was 24.7 mm. Mean increase in intracranial volume was 253.2 cm3. The overall complication rate was 32.2%, with the most common complications being surgical-site infection, hardware-related complications and delayed wound healing. Conclusions: PCD is a powerful technique in the management of syndromic craniosynostosis, although complication rates are significantly higher than traditional remodeling techniques. Future studies should compare the effects of supratorcular and infratorcular osteotomies on intracranial volume, cosmesis and complications. [ABSTRACT FROM AUTHOR]

Objective: Develop a model for the study of Electronic Nicotine Device (ENDS) exposure on craniofacial development. Design: Experimental preclinical design followed as pregnant murine dams were randomized and exposed to filtered air exposure, carrier exposure consisting of 50% volume of propylene glycol and vegetable glycine (ENDS Carrier) respectively, or carrier exposure with 20 mg/ml of nicotine added to the liquid vaporizer (ENDS carrier with nicotine). Setting: Preclinical murine model exposure using the SciReq exposure system. Participants: C57BL6 adult 8 week old female pregnant mice and exposed in utero litters. Interventions: Exposure to control filtered air, ENDS carrier or ENDS carrier with nicotine added throughout gestation at 1 puff/minute, 4 h/day, five days a week. Main Outcome Measures: Cephalometric measures of post-natal day 15 pups born as exposed litters. Results: Data suggests alterations to several facial morphology parameters in the developing offspring, suggesting electronic nicotine device systems may alter facial growth if used during pregnancy. Conclusions: Future research should concentrate on varied formulations and exposure regimens of ENDS to determine timing windows of exposures and ENDS formulations that may be harmful to craniofacial development. [ABSTRACT FROM AUTHOR]

Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The PPP2R5D gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the PPP2R5D gene have recently been defined as Houge–Janssens syndrome 1. Methods: Clinical/whole exome sequencing was performed on approximately 3000 patients with NDDs from 2017 to 2023. In vitro experiments were performed to assess the impairment of variants to protein expression and the assembly of PP2A holoenzyme. The genetic information and phenotypes of the reported patients, as well as patients in this study, were summarized, and the genotype–phenotype relationship was analyzed. The probability of pathogenic missense variants in PPP2R5D was predicted using AlphaMissense (AM), and the relationship between certain phenotype and 3D protein structural features were analyzed. Results: Thirteen new patients carrying twelve PPP2R5D gene variants were detected, including five novel missense variants and one novel frameshift variant. In vitro experiments revealed that the frameshift variant p.H463Mfs*3 resulted in a ~50 kDa truncated protein with lower expression level. Except for E420K and T536R, other missense variants impaired holoenzyme assembly. Furthermore, we found that pathogenic/likely pathogenic (P/LP) variants that have been reported so far were all missense variants and clustered in three conserved regions, and the likelihood of P/LP mutations located in these conserved regions was extremely high. In addition, the macrocephaly phenotype was related to negatively charged residues involved in substrate recruitment. Conclusions: We reported thirteen new patients with PPP2R5D gene variants and expanded the PPP2R5D variant spectrum. We confirmed the pathogenicity of novel variants through in vitro experiments. Our findings in genotype–phenotype relationship provide inspiration for genetic counseling and interpretation of variants. We also provide directions for further research on the mechanism of macrocephaly phenotype. [ABSTRACT FROM AUTHOR]

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Introduction: Skin cancer frequently hits the nasal pyramid. Reconstruction of the nasal defects of the nasal pyramid after oncologic resection is challenging for plastic surgeons due to the anatomic complexity of the nose. The forehead flap is a pedicled flap used since antiquity in the reconstruction of nasal defects. Methods: We retrospectively reviewed the medical records of 30 patients operated for skin cancer of the nasal pyramid with reconstruction of the skin defect by forehead flap between the years 2008 and 2020. Results: The mean age was 66.3. The sex ratio was 2.75. The tumor mean size of the tumor was 34 mm ranging between 19 and 50 mm. Twenty-nine patients required a second time surgery for flap severing and degreasing. The paramedian forehead flap was used in 20 cases, the "sea gull" flap in 5 cases, the inclined FF in 4 cases, and the island FF in 1 case. Conclusion: Surgical techniques of FF offer good aesthetic results with a lesser morbidity rate. Our retrospective report attests to the reliability of FF as the workhorse for the reconstruction of small and average nasal defects. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to inform the revision of a targeted surveillance risk registry by identifying which risk factors predict postnatally identified hearing loss (PNIHL) in children who pass newborn hearing screening and to determine whether hearing surveillance beyond the age of 1 year is warranted. Method: We used retrospective analysis of the audiological outcomes of children born in the state of Queensland, Australia, between January 1, 2010, and December 31, 2019, who passed the newborn hearing screen with risk factors. Results: Approximately one third of children were lost to follow-up and could not be included in the analysis. Risk factors that predicted PNIHL in the analyzed cohort were as follows: syndromes associated with hearing loss, craniofacial anomalies, perinatal infections, and family history of permanent childhood hearing loss. Severe asphyxia did not predict PNIHL but yielded some cases of significant bilateral hearing loss. Hearing loss in children with a history of prolonged ventilation was mild and/or unilateral in nature (except in cases where the hearing loss was due to an unrelated etiology). There were no cases of PNIHL in children with hyperbilirubinemia or neonatal bacterial meningitis. For the risk factors that predicted PNIHL, nearly all hearing losses were detected by 1 year of age, except for children with family history where one quarter of hearing losses had a later onset. Conclusions: The four risk factors recommended for efficient postnatal identification of hearing loss are as follows: syndromes associated with hearing loss, craniofacial anomalies, perinatal infection, and family history of permanent childhood hearing loss. Hearing surveillance through to 1 year old is sufficient except for children with a family history, where a second phase assessment is indicated. Alternative targeted surveillance protocols and models of care are required to minimize loss to follow-up. [ABSTRACT FROM AUTHOR]

Background Patients with vein of Galen malformations (VOGMs) can develop fine angiogenic networks with fistulous connections to the precursor of the vein of Galen. In these cases, transarterial embolization (TAE) with liquid embolic agents (LEAs) is challenging due to reflux in the pedicle leading to the network, causing poor penetration. Transvenous approaches carry a risk of hemorrhage from pathologic vasculature. Dual-lumen balloon microcatheters like the Scepter Mini (Microvention, Aliso Viejo, CA) improve distal pedicle access, preventing reflux. Objective Here, we report on the use of the Scepter Mini for TAE of angiogenic VOGM. Methods A single-institution retrospective chart review identified all VOGMs treated with Scepter Mini microcatheters. Clinical data, angioarchitecture, and technical parameters were reviewed. Results 17 Scepter Mini catheters were used in 12 embolization procedures of 7 patients with VOGM at a median age of 2.1 years. Patients presented with hydrocephalus (100%) and gross motor and speech delays (57.1%). Networks developed extra-axially into the subependymal zone fed by posterior choroidal, posterior cerebral, and thalamoperforator arteries. Posterior choroidal branches (n=7/17, 41.2%) were most frequently catheterized to achieve distal access to the network. Embolization with Onyx-18 and significant network penetration occurred in 17/17 uses. Near tip entrapment with LEA cast displacement occurred in 1/17 uses. Another patient experienced postprocedural intraventricular hemorrhage requiring a third ventriculostomy without permanent neurologic deficit. Conclusion The Scepter Mini provided excellent distal access with penetration to the fistula and extra-axial network reduction with few complications. The Scepter Mini provides a means for successful treatment of technically challenging angiogenic VOGM. [ABSTRACT FROM AUTHOR]

Objectives: Few evidence-based psychosocial programs exist within craniofacial care. This study (a) assessed feasibility and acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) intervention among caregivers of children with craniofacial conditions and (b) described barriers and facilitators of caregiver resilience to inform program adaptation. Design: In this single-arm cohort study, participants completed a baseline demographic questionnaire, the PRISM-P program, and an exit interview. Participants: Eligible individuals were English-speaking legal guardians of a child <12-years-old with a craniofacial condition. Intervention: PRISM-P included 4 modules (stress-management, goal-setting, cognitive-restructuring, meaning-making) delivered in 2 one-on-one phone or videoconference sessions 1–2 weeks apart. Main Outcome Measures: Feasibility was defined as >70% program completion among enrolled participants; acceptability was defined as >70% willingness to recommend PRISM-P. Intervention feedback and caregiver-perceived barriers and facilitators of resilience were summarized qualitatively. Results: Twenty caregivers were approached and 12 (60%) enrolled. The majority were mothers (67%) of a child <1-year-old diagnosed with a cleft lip and/or palate (83%) or craniofacial microsomia (17%). Of these, 8 (67%) completed PRISM-P and 7 (58%) completed interviews; 4 (33%) were lost-to-follow-up before PRISM-P and 1 (8%) before the interview. Feedback was highly positive, with 100% willing to recommend PRISM-P. Perceived barriers to resilience included uncertainty about their child's health; facilitators included social support, parental identity, knowledge, and control. Conclusions: PRISM-P was acceptable among caregivers of children with craniofacial conditions but not feasible based on program completion rates. Barriers and facilitators of resilience support the appropriateness of PRISM-P for this population and inform adaptation. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the volumetric airway changes using three-dimensional images following unilateral vertical mandibular distraction osteogenesis (uVMD) among patients with hemifacial microsomia (HFM). Design: This retrospective study analyzed cone-beam computed tomography (CBCT) scans of patients with HFM at three different timepoints; pretreatment (T0), posttreatment (T1), and at least 6 months post-distraction (T2). The individuals underwent uVMD between December 2018-Januaray 2021. The nasopharyngeal (NP) volume, oropharyngeal (OP) volume, and the area of maximum constriction (MC) were measured. Wilcoxon signed-rank test was used to compare the airway volumes between T0-T1, T1-T2, and T0-T2. Results: Five patients met the inclusion criteria (mean age = 10.4 years; 1 female, 4 males). Intraclass correlation analysis showed excellent interrater reliability (r >.86, P <.001). Posttreatment, the OP airway volume exhibited a significant mean increase of 56% (P =.043) from T0 to T1, but decreased from T1-T2 by 13%. Likewise, the total airway volume presented with a significant mean increase of 48% between T0-T1 (P =.044), and a decrease of 7% from T1-T2. The changes in the NP airway volume and area of MC were not statistically significant (P >.05), but an increase in the mean values were observed. Conclusion: Surgical intervention with uVMD may significantly increase the OP airway volume and the total airway volume among patients with HFM immediately after distraction. However, the statistical significance diminished after six months post-consolidation, but the mean percent change may remain of clinical significance. The NP volume did not seem to show significant changes in response to uVMD. [ABSTRACT FROM AUTHOR]

Objective: Families increasingly use online resources to acquire medical information about their child's condition with little understanding of the legitimacy of the source of information or of the information itself. We evaluate the quality and readability of online information related to positional head shape conditions and identify unmet needs for healthcare providers to improve online patient education. Design: The search terms "flat head baby," "brachycephaly," and "plagiocephaly" were queried on the Google search engine and the first 20 websites for each were reviewed. Included websites were evaluated for quality using the DISCERN Instrument and readability using the Flesch-Kincaid Reading Grade Level (FKGL) and Flesch Reading Ease Score (FRES). Websites were categorized by upload source and results were compared using one-way ANOVA. Results: 38 websites met inclusion criteria. There was no significant correlation between DISCERN score and Google search rank between the three search terms. Professional organizations provided websites with the highest mean DISCERN score (56.3) and commercial websites with the lowest score (36.6, P =.003), indicating "good" and "poor" quality content, respectively. Readability assessments showed an overall average FKGL of 9.9 and FRES of 54.4, suggesting "fairly difficult". Hospitals provided the most website results and tended to publish lower quality information, yet are the most readable. Conclusions: High quality websites written at an appropriate reading level for the general public are lacking. A review of online resources for positional head shape conditions can be used to derive recommendations to improve the content of online patient education for pediatric healthcare. [ABSTRACT FROM AUTHOR]

Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological centre of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the keywords: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and "Turner syndrome"; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its aetiology. The angular and linear cephalometric measurements differ from the measurements of the average normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusions: The greater part of the existing literature regarding cephalometric measurements in short-statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature should be the focus of future studies. These quantitative data are required to potentially establish cut-off values for reference for genetic testing based on craniofacial phenotypes. [ABSTRACT FROM AUTHOR]

Introduction: According to the literature, an existing correlation is said to be present between craniocervical and craniofacial morphology. Recent studies have revealed that there are certain variations among the different forms of craniofacial patterns with respect to the morphology of the vertebrae. Since there are very few studies comparing the curvature of the cervical column in relation to the cranial base in Cleft, Class-I and Class-III individuals, this study was carried out. Aim: To provide a comprehensive comparative analysis of the curvature of the cervical vertebral column and its relationship with the cranial base in Class-I, cleft, and Class-III individuals within the Central Indian population. Materials and Methods: In this cross-sectional study conducted at the Department of Orthodontics and Dentofacial Orthopaedics at Sharad Pawar Dental College and Hospital, Sawangi (M).Wardha, Maharashtra, India, patients with skeletal Class-I, Class-III, and Unilateral Cleft Lip and Palate (UCLP) or Bilateral Cleft Lip and Palate (BCLP) in the Central India region were included. The study duration was eight months, from April 2022 to January 2023. The research involves a meticulous examination of 90 individuals, divided into three groups: Class-I individuals (n=30), cleft individuals (n=30), and Class-III individuals (n=30). A comprehensive set of radiographic and cephalometric measurements will be employed to assess cervical vertebral curvature. One-way Analysis of Variance (ANOVA) test was used for analysis. Results: With the exception of Sella-Nasion to Gonion Gnathion (SA-Go-Gn), where the p-value was 0.13, a statistically significant difference between Class-I and Class-III was seen for all angles. For Class-III cases with clefts, every angle revealed a statistically significant difference. Except for SN-Go-Gn (p=0.65), all of the angles revealed a statistically significant difference when compared to Class-I with Cleft, with a p-value

Abstract Background Parameningeal rhabdomyosarcoma (PM-RMS) is a rare and aggressive soft tissue malignancy that primarily occurs in the head and neck region. The standard treatment approach for RMS involves a multimodal therapy regimen, which includes surgery, chemotherapy, and radiotherapy. However, the routine use of radiotherapy and chemotherapy in young patients with RMS in the head and neck region can lead to adverse effects on dental development and thereby, pose a challenge in planning dental intervention. Case presentation This case report outlines the dental and facial developmental consequences in a 13-year-old child, who received chemo-radiotherapeutic intervention at the age of 7 years for the management of PM-RMS. Following treatment, the child exhibited significant dental complications, including arrested root growth and restricted mouth opening. Conclusions This case highlights the necessity for interdisciplinary collaboration between oncologists, dentists, and other healthcare professionals to mitigate the adverse effects on dental health and overall quality of life in patients undergoing chemo-radiotherapy for rhabdomyosarcoma.

Les méningo-encéphalocèles (MEC) sincipitaux sont des malformations congénitales rares qui se manifestent par une hernie de tissu cérébral ou méningé à travers une ouverture dans l'étage antérieur de la base du crâne. Ces malformations touchent toujours l'os frontal, plus précisément la région glabellaire et l'angle naso-frontal. Une collaboration entre Médecins du Monde et le Children's Surgical Center de Phnom Penh a permis de prendre en charge plus de quatre cents cas sur vingt ans. Les patients n'ont généralement pas eu d'examens radiologiques, les stratégies chirurgicales étant basées sur les observations cliniques et peropératoires. Il existe plusieurs formes cliniques de MEC : naso-frontales, naso-ethmoïdales, et naso-orbitaires. La classification de Suwanwela de 1972 reste la plus pertinente. Les MEC naso-frontales sont souvent associés à une importante expansion cutanée sans déformation osseuse majeure, contrairement aux MEC naso-ethmoïdales, qui entraînent des déformations significatives et sont les plus fréquentes. Les MEC naso-orbitaires, plus rares, provoquent le plus souvent une augmentation du volume orbitaire. La nature du tissu hernié et le volume de la hernie sont déterminants pour la stratégie chirurgicale. La canthopexie, un élément clé de la reconstruction, doit être précise et répond à des règles strictes pour assurer un résultat esthétique. Le remodelage fronto-nasal finalise la réparation. La chirurgie des MEC suit des principes bien codifiés. Le contexte humanitaire influence la prise en charge, avec un accent sur la sécurité chirurgicale et la transmission des compétences. Le traitement repose sur une vision clinique plus que radiologique, même si les avancées en imagerie sont aujourd'hui disponibles au Cambodge. Le suivi à long terme, surtout chez les enfants, reste un défi à documenter pour évaluer les impacts sur la croissance et la stabilité des résultats chirurgicaux. Sincipital meningoencephaloceles (MECs) are rare congenital malformations characterized by the herniation of brain or meningeal tissue through an opening in the anterior floor of the skull base. These malformations always affect the frontal bone, specifically the glabellar region and the naso-frontal angle. A collaboration between Médecins du Monde and the Children's Surgical Center in Phnom Penh has enabled the treatment of over four hundred cases over twenty years. Patients typically have not undergone radiological examinations, with surgical strategies based on clinical and intraoperative observations. There are several clinical forms of MECs: naso-frontal, naso-ethmoidal, and naso-orbital. The 1972 classification by Suwanwela remains the most relevant. Naso-frontal MECs are often associated with significant skin expansion without major bone deformity, unlike naso-ethmoidal MECs, which lead to significant deformities and are the most common. Naso-orbital MECs, being rarer, most frequently result in an increased orbital volume. The nature of the herniated tissue and the volume of the hernia are critical in determining the surgical strategy. Canthopexy, a key element of reconstruction, must be precise and adhere to strict rules to ensure an aesthetic result. The fronto-nasal remodeling completes the repair. The surgery for MECs follows well-codified principles. The humanitarian context influences management, with an emphasis on surgical safety and skill transmission. Treatment relies more on clinical assessment than radiological, although imaging advancements are now available in Cambodia. Long-term follow-up, especially in children, remains a challenge to document in order to evaluate the impacts on growth and the stability of surgical outcomes. [ABSTRACT FROM AUTHOR]

Purpose: Data supporting treatment recommendations for congenital nasolacrimal duct obstruction (CNLDO) in patients with craniofacial abnormalities is scarce. This study reports the incidence, clinical features, and outcomes of patients with concomitant craniofacial abnormalities and CNLDO. Methods: This multi-center, retrospective, population-based cohort study included all patients diagnosed with CNLDO before age 6 during a 10-year period in a single US county. Results: Of the 17,713 live births during the study period, 1998 infants were diagnosed with CNLDO, among whom 41 (2.05%) had associated congenital craniofacial abnormalities, yielding a birth prevalence of 23.1 (95% CI 16.6–31.4) per 10,000 live births. Craniofacial patients were significantly older at time of diagnosis (6.2 months) compared to uncomplicated CNLDO (3.7 months; p = 0.035). There was no significant difference in mean age at spontaneous CNLDO resolution, but 31.7% of craniofacial patients required probing for CNLDO resolution, compared to 14.5% in the CNLDO group (OR 2.76 [95%CI 1.41–5.39] p = 0.003). All but two patients with craniofacial abnormalities had resolution of symptoms after initial probing. Intraoperative probing findings indicated that 8 of 13 craniofacial patients had complex obstructions. Conclusions: The similar age at spontaneous resolution indicates that watchful waiting until approximately one year of age is a reasonable approach even in patients with craniofacial abnormalities, though more of these patients may require surgical intervention. [ABSTRACT FROM AUTHOR]

Standardization of surgical protocols is an evolving issue owing to the low incidence of rare craniofacial clefts. In this article, we present our surgical management technique for repair of rare craniofacial clefts and evaluate the postoperative results. This study was conducted from 2013 to 2022 and included patients who presented with craniofacial clefts. The results were assessed based on parents' satisfaction and objective evaluations by two independent observers. A total of 3679 patients presented with cleft anomalies; of these, 61 patients with 89 rare craniofacial clefts were observed with a prevalence of 2.42/100. The male to female ratio was 1:1.35. Craniofacial cleft "4" and "5" were the most common, with 17 (19.1%) and 16 (17.98%) patients, respectively. Multiple craniofacial clefts were observed in 37.7% of the patients. Associated craniofacial anomalies were found in 39.34% of the patients. The parents of 71.6% of the patients were very satisfied with the results. Based on the scores of two independent observers, 70.27% of the patients showed good results. The rare nature of craniofacial clefts and involvement of various structures make the standardization of surgical procedures very challenging. Our experience with these clefts will help new surgeons both in didactics and in technical aspects of patient management. 1. We share our experience with rare craniofacial clefts. 2. Each cleft presents with its own unique reconstructive challenges. The literature describes many techniques for each type of cleft, all with multiple permutations. We present a simplified technique that has worked for us over the years for all Tessier clefts. [ABSTRACT FROM AUTHOR]

Purpose: To compare different assessment methods for peri-implant inflammation to evaluate potential risk factors and to generate a comprehensive algorithm for clinical staging, treatment, and evaluation of success in periorbital implants. Materials and Methods: In this hospital-based cross-sectional study, 111 periorbital implants in 40 patients with orbital defects after exenteration were clinically analyzed. Skin reaction according to Holgers (SRH), probing depth (PD), and sulcus fluid flow rate (SFFR), as well as patient-specific data, such as age, sex, smoking and irradiation status, cleaning agent and frequency, defect etiology, implant system, implant location, time span since implantation, and type of retention, were assessed and statistically analyzed via mixed-model calculations. Success was defined as the absence of necessary invasive or antibiotic treatment. Results: A total of 62 implants (55.9%) had been placed in male patients and 49 implants (44.1%) in female patients. There were 18 patients (52 implants, 46.8%) who had received radiotherapy. Mean inflammation levels were low. PD and SFFR were highly correlated, whereby PD increased significantly with time after implantation. SRH = 2 was correlated significantly with higher PD and SFFR values. While 80% of the implants did not require invasive or antibiotic treatment, 45% of the patients presented at least one affected implant. The data gathered allowed for the definition of a staging and treatment algorithm for peri-implantitis in periorbital implants. No patient-specific factors showed a significant impact on peri-implant inflammation. Conclusion: Periorbital implant restorations with magnetic abutments are a safe treatment option for orbital defects. PD and SRH were proven to be valuable quick assessment tools and should be complemented by SFFR, if inconclusive. The established parameters for the staging of peri-implant tissue health and clinical success can serve as a viable tool for reliable and comparable assessment in clinical and scientific settings. Further studies are necessary to assess the suggested treatment algorithm. [ABSTRACT FROM AUTHOR]

Abstract Background This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and mouth breathing (MB) by evaluating along with other risk factors, in a Turkish subpopulation of children and adolescence. Methods This study was conducted with the archival data of the patients who applied with orthodontic complaints. Data on demographic characteristics, family-related factors, systemic status, occlusion, breathing patterns, oral habits, and bruxism were retrieved from the archival records. Results Nine hundred forty-five children and adolescents with a mean age of 14.82 ± 2.06 years were included in the study. Of the participants, 66% were girls, 60.4% were delivered by C-section, 8.4% of the participants had at least one systemic disease, 9.2% of the participants had allergy, and 4.3% of the participants’ parents were divorced, 18.7% have an oral habit, 6.6% have bruxism, 29.8% have malocclusion and 14.1% have MB. Eight-point-five percent of participants have signs/symptoms of TMD. Among them 2.9% have pain, 3.7% have joint sounds, 1.4% have deflection, and 3.9% have deviation. Evaluation of the risk factors revealed a significant relation between the signs/symptoms of TMD and bruxism (OR 8.07 95% CI 4.36–14.92), gender (OR 2.01 95% CI 1.13–3.59), marital status of parents (OR 2.62 95% CI 1.07–6.42), and MB (OR 3.26 95% CI 1.86–5.71). Conclusions According to the study’s findings, girls and those with bruxism, divorced parents, and MB behavior are more likely to have signs/symptoms of TMD. Age found to have significant effect on the occurrence of the signs/symptoms of TMD alone, but together with other factors the effect of the age is disappeared. Early screening and intervention of MB as well as the signs/symptoms of TMD can help to limit detrimental effects of these conditions on growth, and quality of life of children and adolescents.

Background: This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and mouth breathing (MB) by evaluating along with other risk factors, in a Turkish subpopulation of children and adolescence. Methods: This study was conducted with the archival data of the patients who applied with orthodontic complaints. Data on demographic characteristics, family-related factors, systemic status, occlusion, breathing patterns, oral habits, and bruxism were retrieved from the archival records. Results: Nine hundred forty-five children and adolescents with a mean age of 14.82 ± 2.06 years were included in the study. Of the participants, 66% were girls, 60.4% were delivered by C-section, 8.4% of the participants had at least one systemic disease, 9.2% of the participants had allergy, and 4.3% of the participants' parents were divorced, 18.7% have an oral habit, 6.6% have bruxism, 29.8% have malocclusion and 14.1% have MB. Eight-point-five percent of participants have signs/symptoms of TMD. Among them 2.9% have pain, 3.7% have joint sounds, 1.4% have deflection, and 3.9% have deviation. Evaluation of the risk factors revealed a significant relation between the signs/symptoms of TMD and bruxism (OR 8.07 95% CI 4.36–14.92), gender (OR 2.01 95% CI 1.13–3.59), marital status of parents (OR 2.62 95% CI 1.07–6.42), and MB (OR 3.26 95% CI 1.86–5.71). Conclusions: According to the study's findings, girls and those with bruxism, divorced parents, and MB behavior are more likely to have signs/symptoms of TMD. Age found to have significant effect on the occurrence of the signs/symptoms of TMD alone, but together with other factors the effect of the age is disappeared. Early screening and intervention of MB as well as the signs/symptoms of TMD can help to limit detrimental effects of these conditions on growth, and quality of life of children and adolescents. [ABSTRACT FROM AUTHOR]

Floating–Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating–Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case. [ABSTRACT FROM AUTHOR]

Obstructive sleep apnea (OSA) may be linked to various factors that narrow the upper airways, such as obesity, adenotonsillar hypertrophy and craniofacial abnormalities. Hypothyroidism has also been described as a risk factor for OSA. However, the implication of goiter independently of thyroid function in the occurrence of OSA remains unclear. We present the case of a 66-year-old woman with a large compressive multinodular goiter for whom total thyroidectomy was indicated. During the preoperative assessment, the patient had a body mass index (BMI) of 37.8 kg/m2 with symptoms of OSA. Respiratory polygraphy confirmed the diagnosis of severe OSA (apnea–hypopnea index (AHI) = 32), and treatment with continuous positive airway pressure (CPAP) was initiated prior to thyroid surgery. Surprisingly, after total thyroidectomy, OSA symptoms disappeared, and the patient abandoned CPAP therapy. Subsequent respiratory polygraphy after thyroidectomy showed a decrease in AHI to a normal value (AHI < 5). Interestingly, there was no change in BMI or other factors explaining the resolution of OSA, except for thyroidectomy. This case report suggests that goiter can be considered a risk factor for OSA. However, prospective studies are needed to accurately assess the effects of goiter on the occurrence of OSA according to its dimensions and local extension. [ABSTRACT FROM AUTHOR]

The article focuses on a 7-month-old female with preaxial polydactyly and syndactyly in both hands and feet, alongside a positive family history of similar conditions in her father, indicating a potential genetic syndrome. Topics include the clinical examination findings, imaging studies revealing specific skeletal anomalies, and the genetic testing confirming Greig cephalopolysyndactyly syndrome (GCPS) due to a pathogenic variant in the GLI3 gene, inherited in an autosomal dominant manner.

Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure. [ABSTRACT FROM AUTHOR]

Scalp and forehead region reconstruction is a complex clinical area, typically necessitated by conditions like skin cancers, intracranial lesions, trauma and burns. Various reconstructive techniques exist, from primary closure upscaling to free tissue transfer. Reconstructive options are largely determined by the size and location of the defects, as well as other factors such as age and comorbidities. Preserving natural hair patterns and utilising native scalp tissue, whenever possible, are essential for achieving aesthetic success. This article provides a concise overview of scalp wound reconstruction, emphasising the advantages and limitations of each option. [ABSTRACT FROM AUTHOR]

Purpose: This article reviews the literature focused on the psychological effects of craniofacial care for patients and their families. It provides an overview of pediatric medical traumatic stress (PMTS) associated with craniofacial conditions and related care, along with a review of its risk and protective factors. Findings from studies of PMTS in craniofacial populations are also reviewed. Conclusions: The article concludes with strategies for identifying, addressing, and preventing medical traumatic stress in the context of craniofacial care. Specific implications for speech-language pathologists are also shared with respect to ways of minimizing risks for medical traumatic stress in craniofacial care. Future directions are also delineated and include strategies to improve screening and support for patients with craniofacial conditions and their families, along with the development of interventions aimed at increasing resilience. [ABSTRACT FROM AUTHOR]

Purpose: Home exercise programs (HEPs) are provided to patients to maximize retention and generalization of the skills learned during ongoing speech therapy. Unfortunately, psychosocial barriers can lead to inconsistent implementation of speech HEPs, but currently, minimal research exists in identifying these factors. This study aims to ascertain the barriers involved in neglecting the implementation of speech HEPs within the cleft and craniofacial population. Method: Respondents answered a series of questions related to demographics (e.g., ethnicity, diagnosis), speech services (e.g., frequency, additional services), and psychosocial barriers (e.g., mental health of parent, patient motivation). Results: Findings demonstrated that 88% of the families in this study experienced psychosocial barriers. Fifteen out of the 17 respondents were mothers (88%), whose marriage status included married (70.59%), single (23.53%), and widowed (5.88%). The majority (59% of caregivers) reported completing assigned speech HEPs less than 75% of the time. Conclusions: Given the findings of this preliminary study, future studies can further assess the psychosocial barriers and their relationship to demographic information. This information will be useful in finding strategies to promote follow-through of HEP implementation in the future. [ABSTRACT FROM AUTHOR]

Defects of the cranial vault can be congenital or acquired. Congenital defects include syndromic and nonsyndromic. Acquired defects include defects from tumor, infection and trauma, which can cause loss of the calvarium due to direct trauma or by craniectomy procedure. The diagnostic approach for such cases includes physical examination and imaging techniques (such as plain radiographs, CT, MRI, and ultrasound). The method of reconstruction of cranial defects is tailor made to each individual patient. The method as well as the graft material is based on the patient's overall disease state, long-term prognosis, and medical comorbidities. Reconstruction of these cranial defects has been attempted with the use of different materials which include autografts, allografts, xenografts and alloplastic materials. The reconstruction of cranial defects requires a tailored approach based on the patient's overall disease state, long-term prognosis, and medical comorbidities. Autogenous grafts offer advantages such as integration, vascularity, and lower risk of infection, but have drawbacks including resorption. Allografts, xenografts and alloplastic biomaterials provide alternative options for reconstruction, but there is no ideal material that fulfils all characteristics. The choice of graft material should consider factors such as age, sex, size, and site of the defect. [ABSTRACT FROM AUTHOR]

Designing implants for large and complex cranial defects is a challenging task, even for professional designers. Current efforts on automating the design process focused mainly on convolutional neural networks (CNN), which have produced state-of-the-art results on reconstructing synthetic defects. However, existing CNN-based methods have been difficult to translate to clinical practice in cranioplasty, as their performance on large and complex cranial defects remains unsatisfactory. In this paper, we present a statistical shape model (SSM) built directly on the segmentation masks of the skulls represented as binary voxel occupancy grids and evaluate it on several cranial implant design datasets. Results show that, while CNN-based approaches outperform the SSM on synthetic defects, they are inferior to SSM when it comes to large, complex and real-world defects. Experienced neurosurgeons evaluate the implants generated by the SSM to be feasible for clinical use after minor manual corrections. Datasets and the SSM model are publicly available at https://github.com/Jianningli/ssm. [ABSTRACT FROM AUTHOR]

Objective: Patients undergoing oral and maxillofacial flap reconstruction often need blood transfusions due to massive blood loss. With the increasing limitations of allogeneic blood transfusion (ABT), doctors are considering acute normovolemic hemodilution (ANH) because of its advantages. By comparing the differences in the (Δ) blood indices and postoperative complications of patients receiving ABT or ANH during the reconstruction and repair of oral and maxillofacial tumor flaps, this study's purpose was to provide a reference for the clinical application of ANH. Methods: The clinical data of 276 patients who underwent oral and maxillofacial flap reconstruction from September 25, 2017, to October 11, 2021, in the Department of Oral and Maxillofacial Surgery, Sun Yat-sen Memorial Hospital, were retrospectively analyzed. According to the intraoperative blood transfusion mode, the patients were divided into two groups: ABT and ANH. The differences in the (Δ) blood indices and the incidence of postoperative complications between the groups were analyzed. Results: Among the 276 patients who had ANH (124/276) and ABT (152/276), there were no differences in (Δ) Hb, (Δ) PT, or (Δ) FIB (P > 0.05), while (Δ) WBC, (Δ) PLT, (Δ) APTT and (Δ) D-dimer were significantly different (P < 0.05). The blood transfusion method was not an independent factor for flap crisis (P > 0.05). The wound infection probability in patients with high post-PTs was 1.953 times greater than that in patients with low post-PTs (OR = 1.953, 95% CI: 1.232 ∼ 3.095, P = 0.004). A normal or overweight BMI was a protective factor for pulmonary infection, and the incidence of pulmonary infection in these patients was only 0.089 times that of patients with a low BMI (OR = 0.089, 95% CI: 0.017 ∼ 0.462). Moreover, a high ASA grade promoted the occurrence of pulmonary infection (OR = 6.373, 95% CI: 1.681 ∼ 24.163). The blood transfusion mode (B = 0.310, β = 0.360, P < 0.001; ANH: ln hospital stay = 2.20 ± 0.37; ABT: ln hospital stay = 2.54 ± 0.42) improved the length of hospital stay. Conclusion: Preoperative and postoperative blood transfusion (Δ) Hb, (Δ) PT, and (Δ) FIB did not differ; (Δ) WBC, (Δ) PLT, (Δ) APTT, and (Δ) D-dimer did differ. There was no difference in the effects of the two blood transfusion methods on flap crisis, incision infection or lung infection after flap reconstruction, but ANH resulted in a 3.65 day shorter average hospital stay than did ABT. [ABSTRACT FROM AUTHOR]

Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities. [ABSTRACT FROM AUTHOR]

Trimeric G proteins transduce signals from a superfamily of receptors and each G protein controls a wide range of cellular and systemic functions. Their highly conserved alpha subunits fall in five classes, four of which have been well investigated (Gs, Gi, G12, Gq). In contrast, the function of the fifth class, Gv is completely unknown, despite its broad occurrence and evolutionary ancient origin (older than metazoans). Here we show a dynamic presence of Gv mRNA in several organs during early development of zebrafish, including the hatching gland, the pronephros and several cartilage anlagen, employing in situ hybridisation. Next, we generated a Gv frameshift mutation in zebrafish and observed distinct phenotypes such as reduced oviposition, premature hatching and craniofacial abnormalities in bone and cartilage of larval zebrafish. These phenotypes could suggest a disturbance in ionic homeostasis as a common denominator. Indeed, we find reduced levels of calcium, magnesium and potassium in the larvae and changes in expression levels of the sodium potassium pump atp1a1a.5 and the sodium/calcium exchanger ncx1b in larvae and in the adult kidney, a major osmoregulatory organ. Additionally, expression of sodium chloride cotransporter slc12a3 and the anion exchanger slc26a4 is altered in complementary ways in adult kidney. It appears that Gv may modulate ionic homeostasis in zebrafish during development and in adults. Our results constitute the first insight into the function of the fifth class of G alpha proteins. [ABSTRACT FROM AUTHOR]

Background: Hemifacial microsomia is characterized by the hypoplasia of the mandible and temporomandibular joint, involving a variety of abnormalities of the craniofacial area. Since it gradually worsens as patients grow, it is necessary to understand the characteristics of facial bone growth and facial deformity in hemifacial microsomia patients in order to determine appropriate treatment timing and treatment methods. Main body: Appropriate classification of hemifacial microsomia would facilitate accurate diagnosis, selection of treatment methods, and prognosis prediction. Therefore, in this article, we review previously published hemifacial microsomia classification and provide an overview of the growth of the facial skeleton and the characteristics of hemifacial microsomia-related facial deformities. The OMENS system is the most comprehensive classification method based on the characteristics of hemifacial microsomia deformity, but it needs to be improved to include malar/midface abnormalities and nerve involvement. In hemifacial microsomia, growth is progressing on the affected side, but to a lesser degree than the unaffected side. Therefore, surgical intervention in growing patients should be performed selectively according to the severity of deformity. Conclusion: Understanding growth patterns is important to develop appropriate treatment protocols for correcting asymmetry in adult patients and to minimize secondary anomalies in growing patients. [ABSTRACT FROM AUTHOR]

Objective: To explore the effect of early swallowing training on postoperative outcomes of patients who had undergone oral cancer surgery plus free flap reconstruction. Subjects and Methods: In this prospective, randomized controlled trial, 121 patients who had undergone oral cancer surgery plus free flap reconstruction were randomly assigned to the control (n = 59) or intervention group (n = 62). The control group underwent routine nursing measures. The intervention group received swallowing training on the sixth postoperative day. On the 15th day and 1 month after surgery, the swallowing function (Mann Assessment of Swallowing Ability‐Oral Cancer [MASA‐OC] score), weight loss rate, time of nasogastric tube removal, and quality of life were evaluated. Results: Patients in the intervention group had higher MASA‐OC scores and better weight loss rates than those in the control group on the 15th day (MASA‐OC: p = 0.014, weight loss: p < 0.001) and 1 month (both p < 0.001) after surgery. The time of nasogastric tube removal and the quality of life was statistically significant between groups (p < 0.001). Conclusion: Early swallowing training improves the swallowing function, nutritional status, and quality of life and shortens the indwelling time of nasogastric tube of patients who have undergone oral cancer surgery plus free flap reconstruction. [ABSTRACT FROM AUTHOR]

Abusive head trauma (AHT) is a significant cause of morbidity and mortality for infants. Determining when to pursue a complete physical abuse evaluation can be difficult, especially for nonspecific findings or when a child appears clinically well. This retrospective study of 7 cases sought to describe the presentation, evaluation, and diagnoses for infants with abnormal subdural collections identified on cranial ultrasound for macrocephaly, and to determine how frequently AHT is diagnosed. The results of this study showed that while each patient presented due to asymptomatic macrocephaly, the extent of the workup varied greatly. In addition, no infants had suspicious injuries for abuse during the initial evaluation or the year following. In summary, among the 7 patients seen for asymptomatic macrocephaly with possible subdural hemorrhage, there were very inconsistent child abuse workups. There needs to be a standardized clinical guideline for this specific patient population involving a child abuse pediatric evaluation. [ABSTRACT FROM AUTHOR]

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The article focuses on presentations at ACPA's 2024 Annual Meeting, covering diverse topics such as innovative techniques for cleft rhinoplasty, novel methods for nasal aesthetic analysis, and advancements in digital workflow for nasoalveolar molding fabrication. It highlight the importance of improving surgical outcomes, enhancing preoperative planning, and leveraging technology for more effective cleft care interventions.

Objective: To assess which information about microtia and the possible reconstructive options health care providers (HCPs), patients and parents believe should be included in a patient decision aid (PtDA). Design: A mixed-methods study comprised of an online survey of HCPs and focus group discussions with patients and parents. Participants: Survey respondents were members of the International Society for Auricular Reconstruction (ISAR). Focus group participants were patients with microtia and their parents, recruited through the microtia outpatient clinic at Amsterdam UMC, and through a Dutch patient organization for cleft and craniofacial conditions. Methods: An online, investigator-made survey was sent to ISAR members in December 2021. Semi-structured focus group discussions were held in February 2022. Quantitative results were summarized, and qualitative results were thematically grouped. Results: Thirty-two HCPs responded to the survey (response rate 41%). Most respondents (n = 24) were plastic surgeons, who had a median of 15 years of experience (IQR: 7-23 years). Two focus groups were held with a total of five patients and two parents. HCPs, patients and parents generally agreed on the information needed in a PtDA, emphasizing the importance of realistic expectation management. Patients and parents also considered psychosocial and functional outcomes, patient experiences, as well as patients' involvement in decision-making important. Conclusions: A PtDA for microtia reconstruction should target all patients with microtia, and include information on at least technique-related information, expected esthetic results, possible adverse effects, psychosocial and functional outcomes and patient experiences. Preference eliciting questions should be developed for both pediatric patients and their parents. [ABSTRACT FROM AUTHOR]