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1.
Article in English | MEDLINE | ID: mdl-38570291

ABSTRACT

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.

2.
Article in English | MEDLINE | ID: mdl-38631989

ABSTRACT

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.

3.
Int Arch Otorhinolaryngol ; 28(2): e278-e287, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38618602

ABSTRACT

Introduction Lateral pharyngoplasty (LP) has shown promising results. Craniofacial deformity reduces the pharyngeal space, contributing to the etiopathogenesis. The analysis of craniofacial features can be performed using cephalometry. Objective To verify if craniofacial deformity is associated with worse polysomnographic data in patients with obstructive sleep apnea (OSA), and to verify if the preoperative cephalometric parameters can interfere with the surgical success of the LP. Methods The study included 21 patients with OSA aged between 18 and 65 years who underwent LP in a university hospital from 2015 to 2019. Polysomnography was performed postoperatively, after a minimum period of 6 months from the surgical procedure. In addition, a cephalometric evaluation was performed to assess craniofacial deformity, and to correlate it with the polysomnographic results. Results The mean and median of all polysomnographic respiratory parameters improved postoperatively, especially the apnea-hypopnea index (AHI), which went from 40.15 to 16.60 events per hour ( p = 0.001). Of the 21 patients, 15 showed improvements in the AHI postoperatively. As for the cephalometric evaluations, we found that the longer the distance between the hyoid bone and the mandibular plane, the greater the patient's preoperative AHI ( p = 0.011). When assessing whether cephalometric changes related to craniofacial deformities influence the surgical outcome of LP, no correlation was found for any cephalometric measurement. Conclusion The longer the distance between the hyoid bone and the mandibular plane, the greater the preoperative AHI, and LP was an effective OSA treatment. Cephalometric variables are not able to modify or determine the success of LP in apneic patients in the population assessed.

4.
Anat Cell Biol ; 2024 Mar 07.
Article in English | MEDLINE | ID: mdl-38449077

ABSTRACT

Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-year-old female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions.

5.
Childs Nerv Syst ; 2024 Feb 07.
Article in English | MEDLINE | ID: mdl-38324062

ABSTRACT

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.

6.
Methods Mol Biol ; 2753: 447-457, 2024.
Article in English | MEDLINE | ID: mdl-38285358

ABSTRACT

Craniofacial abnormalities are one of the most frequent birth malformations in humans, affecting around one in every thousand live births. The zebrafish (Danio rerio), a model organism that has seen increased usage in toxicological research in recent years, is ideal for assessing the effects of various chemicals on bone and cartilage structures. Chondrogenesis developed in zebrafish embryos by embryonic day 2, and supporting cartilage components are apparent at hatching (72 h post-fertilization). Individual cartilage may be observed using Alcian Blue staining as early as 2 days post-fertilization (dpf). The preferential binding of Alcian Blue causes the staining of zebrafish cartilage to acidic glycoproteins in an acidic solution (pH 2.2). In 72-120 hpf embryos, the cranial skeleton is easily visible after cartilage staining using Alcian Blue. Various cranial lengths and structures can be determined by measuring specific distances and angles to optimize the quantitative analysis of cranial malformations in zebrafish after exposure to various toxic agents. This chapter explains the Alcian Blue staining procedure to identify craniofacial cartilaginous structures in zebrafish embryos.


Subject(s)
Perciformes , Zebrafish , Humans , Animals , Alcian Blue , Cartilage , Skull , Staining and Labeling
7.
Int J Oral Maxillofac Surg ; 53(4): 293-300, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37739816

ABSTRACT

Midface hypoplasia in syndromic craniosynostosis (SC) may lead to serious respiratory issues. The aim of this study was to analyse the morphometric correlation between midface and cranial base parameters in paediatric SC patients in order to formulate predictive regression models. The computed tomography scans of 18 SC patients and 20 control were imported into Materialise Mimics Medical version 21.0 software for the measurement of multiple craniofacial landmarks and correlation analysis. The results showed a strong correlation of anterior cranial base (SN), posterior cranial base (SBa), and total cranial base (NBa) (r = 0.935) to maxilla length and width (ZMR-ZML) (r = 0.864). The model of NBa = - 1.554 + 1.021(SN) + 0.753(SBa) with R2 = 0.875 is proposed to demonstrate the development of the cranial base that causes a certain degree of midface hypoplasia in SC patients. The formula is supported using a prediction model of ZMR-ZML = 5.762 + 0.920(NBa), with R2 = 0.746. The mean absolute difference and standard deviation between the predicted and true NBa and ZMR-ZML were 2.08 ± 1.50 mm and 3.11 ± 2.32 mm, respectively. The skeletal growth estimation models provide valuable foundation for further analysis and potential clinical application.


Subject(s)
Craniosynostoses , Humans , Child , Craniosynostoses/diagnostic imaging , Face , Skull Base , Software , Tomography, X-Ray Computed , Cephalometry
8.
Orthod Craniofac Res ; 27(1): 84-94, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37452556

ABSTRACT

OBJECTIVE: Dysregulation of Fibroblast Growth Factor 10 (FGF10), a member of the family of Fibroblast Growth Factor (FGF) proteins, has been implicated in craniofacial and dental anomalies, including craniosynostosis, cleft palate, and Lacrimo-Auriculo-Dento-Digital Syndrome. The aim of this murine study was to assess the craniofacial and dental phenotypes associated with a heterozygous FGF10 gene (FGF10+/- ) mutation at skeletal maturity. METHODS: Skulls of 40 skeletally mature mice, comprising two genotypes (heterozygous FGF10+/- mutation, n = 22; wildtype, n = 18) and two sexes (male, n = 23; female, n = 17), were subjected to micro-computed tomography. Landmark-based linear dimensions were measured for the cranial vault, maxilla, mandible, and first molar teeth. Multivariate analysis of variance was performed to assess whether there were significant differences in the craniofacial and dental structures between genotypes and sexes. RESULTS: The craniomaxillary skeleton and the first molar teeth were smaller in the FGF10+/- mice (P < .05), but the mandible was unaffected. Sex did not have a significant effect on these structures (P > .05). Cranial sutural defects were noted in 5/22 (22.7%) mutant versus 2/18 (11.1%) wildtype mice, and cleft palate in only one (4.5%) mutant mouse. None of the mice displayed craniosynostosis, expansive bony lesions, bifid condyles, or impacted teeth. CONCLUSION: The FGF10+/- mutation was associated with craniomaxillary skeletal hypoplasia that probably arose from deficient (delayed) intramembranous ossification of the sutured bones. Overall, the skeletal and dental data suggest that the FGF10 gene plays an important role in the aetiology of craniofacial dysmorphology and malocclusion.


Subject(s)
Cleft Palate , Craniofacial Abnormalities , Craniosynostoses , Mice , Male , Female , Animals , Cleft Palate/genetics , X-Ray Microtomography , Fibroblast Growth Factor 10/genetics , Disease Models, Animal , Craniofacial Abnormalities/diagnostic imaging , Craniofacial Abnormalities/genetics , Craniosynostoses/genetics , Mutation/genetics
9.
J Craniomaxillofac Surg ; 52(1): 48-54, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38135649

ABSTRACT

Craniosynostosis, characterized by premature fusion of one or more cranial sutures, results in a distorted skull shape. Only three studies have assessed facial asymmetry manually in unicoronal synostosis patients. It is therefore important to understand how uni- and bicoronal synostosis affect facial asymmetry with a minimum risk of human bias. An automated algorithm was developed to quantify facial asymmetry from three-dimensional images, generating a mean facial asymmetry (MFA) value in millimeters to reflect the degree of asymmetry. The framework was applied to analyze postoperative 3D images of syndromic patients (N = 35) diagnosed with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis with respect to MFA values from a healthy control group (N = 89). Patients demonstrated substantially higher MFA values than controls: Muenke syndrome (unicoronal 1.74 ± 0.40 mm, bicoronal 0.77 ± 0.21 mm), Saethre-Chotzen syndrome (unicoronal 1.15 ± 0.20 mm, bicoronal 0.69 ± 0.16 mm), and TCF12-related craniosynostosis (unicoronal 1.40 ± 0.51 mm, bicoronal 0.66 ± 0.05 mm), compared with controls (0.49 ± 0.12 mm). Longitudinal analysis identified an increasing MFA trend in unicoronal synostosis patients. Our study revealed higher MFA in syndromic patients with uni- and bicoronal synostosis compared with controls, with the most pronounced MFA in Muenke syndrome patients with unilateral synostosis. Bicoronal synostosis patients demonstrated higher facial asymmetry than expected given the condition's symmetrical presentation.


Subject(s)
Acrocephalosyndactylia , Craniosynostoses , Humans , Infant , Retrospective Studies , Facial Asymmetry/diagnostic imaging , Craniosynostoses/complications , Craniosynostoses/diagnostic imaging , Craniosynostoses/surgery
10.
Dev Biol ; 505: 75-84, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37923186

ABSTRACT

Congenital craniofacial abnormalities are congenital anomalies of variable expressivity and severity with a recognizable set of abnormalities, which are derived from five identifiable primordial structures. They can occur unilaterally or bilaterally and include various malformations such as cleft lip with/without palate, craniosynostosis, and craniofacial microsomia. To date, the molecular etiology of craniofacial abnormalities is largely unknown. Noncoding RNAs (ncRNAs), including microRNAs, long ncRNAs, circular RNAs and PIWI-interacting RNAs, function as major regulators of cellular epigenetic hallmarks via regulation of various molecular and cellular processes. Recently, aberrant expression of ncRNAs has been implicated in many diseases, including craniofacial abnormalities. Consequently, this review focuses on the role and mechanism of ncRNAs in regulating craniofacial development in the hope of providing clues to identify potential therapeutic targets.


Subject(s)
Craniofacial Abnormalities , Craniosynostoses , MicroRNAs , RNA, Long Noncoding , Humans , RNA, Untranslated/genetics , MicroRNAs/genetics , Craniofacial Abnormalities/genetics
11.
Rev. bras. cir. plást ; 38(4): 1-5, out.dez.2023. ilus
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1525496

ABSTRACT

Introdução: A cirurgia ortognática envolve manipulação da arquitetura óssea facial, através de osteotomias, para restaurar a forma e a função, corrigindo a má oclusão, as desproporções maxilomandibulares e assimetrias faciais. O planejamento virtual em cirurgia ortognática é realizado com ajuda de softwares que utilizam as medidas reais do esqueleto craniofacial e registros da oclusão do paciente, através de uma análise 3D. Método: Foram avaliados 18 pacientes com deformidades dentofaciais, de acordo com a classificação de Angle submetidos a cirurgia ortognática com o uso do planejamento virtual, entre 2018 e 2019. Os critérios de inclusão foram pacientes entre 16 e 60 anos com desproporções maxilo-mandibulares nas quais o tratamento ortodôntico isolado não era suficiente. Os critérios de exclusão foram a presença de lesões císticas ou tumorais nos maxilares e comorbidades clínicas que contraindicavam a cirurgia. O planejamento virtual foi realizado em todos os pacientes, utilizando o software Dolphin® Imaging 11 e os guias cirúrgicos confeccionados em impressora 3D. Resultados: O guia cirúrgico intermediário apresentou adaptação perfeita nas faces oclusais promovendo grande estabilidade para o reposicionamento e fixação da maxila na oclusão intermediária. Os 18 pacientes operados responderam como "totalmente satisfeitos" em relação ao resultado estético-funcional nessa série estudada. Foi encontrada uma semelhança muito grande da posição do esqueleto maxilofacial no planejamento virtual préoperatório e o obtido no pós-operatório, através da avaliação das telerradiografias. Conclusão: O planejamento virtual em cirurgia craniomaxilofacial possui inúmeras vantagens, como diminuição do tempo laboratorial pré-operatório, maior precisão na confecção dos guias cirúrgicos e melhor reprodutibilidade dos resultados simulados.


Introduction: Orthognathic surgery involves the manipulation of facial bone architecture through osteotomies to restore form and function, correcting malocclusion, maxillomandibular disproportions, and facial asymmetries. Virtual planning in orthognathic surgery is carried out with the help of software that uses real measurements of the craniofacial skeleton and records of the patient's occlusion through 3D analysis. Method: 18 patients with dentofacial deformities were evaluated, according to Angle's classification, who underwent orthognathic surgery using virtual planning between 2018 and 2019. The inclusion criteria were patients between 16 and 60 years old with maxylo-mandibular disproportions in which orthodontic treatment alone was not sufficient. Exclusion criteria were the presence of cystic or tumoral lesions in the jaw and clinical comorbidities that contraindicated surgery. Virtual planning was carried out on all patients, using Dolphin® Imaging 11 software and surgical guides made with a 3D printer. Results: The intermediate surgical guide presented perfect adaptation on the occlusal surfaces, promoting great stability for the repositioning and fixation of the maxilla in intermediate occlusion. The 18 operated patients responded as "completely satisfied" in relation to the aesthetic-functional result in this series studied. A very great similarity was found between the position of the maxillofacial skeleton in the preoperative virtual planning and that obtained post-operatively through the evaluation of teleradiography. Conclusion: Virtual planning in craniomaxillofacial surgery has numerous advantages, such as reduced pre-operative laboratory time, greater precision in the creation of surgical guides, and better reproducibility of simulated results.

13.
Int J Surg Case Rep ; 110: 108793, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37689021

ABSTRACT

INTRODUCTION AND IMPORTANCE: Pyknodysostosis is a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is an autosomal recessive disorder caused by mutations in the gene encoding cathepsin K. Pyknodysostosis is associated with short stature, brittle bones, and distinctive facial features. CASE PRESENTATION: This case report presents the clinical manifestations, diagnostic challenges, and management strategies of an 8-year-old male with pyknodysostosis, an extremely rare genetic disorder characterized by skeletal and craniofacial abnormalities. The patient's clinical presentation, radiographic findings, genetic testing results, and treatment approach are discussed. Additionally, the importance of genetic counseling and multidisciplinary care in managing this condition is emphasized. CLINICAL DISCUSSION: A multidisciplinary approach involving orthopedics, genetics, dentistry, and psychological support is crucial for managing patients with pyknodysostosis. Regular follow-up visits, careful monitoring of fractures, and appropriate interventions can improve the patient's quality of life and reduce complications. CONCLUSION: The importance of early recognition, genetic testing, and multidisciplinary care is emphasized for effective treatment and support. Further research is needed to enhance our understanding of this rare genetic disorder and develop targeted therapies.

14.
Sleep Breath ; 2023 Sep 08.
Article in English | MEDLINE | ID: mdl-37682494

ABSTRACT

PURPOSE: To evaluate the role of anatomic alterations of the upper airway and facial skeleton in the evolution of obstructive sleep apnea (OSA) in a prospective population-based study with an 8-year follow-up. METHODS: This was a population-based, longitudinal, prospective study, which took place from 2007 to 2015 at the Instituto do Sono, Sao Paulo, Brazil. In 2007, type I polysomnography (PSG), otorhinolaryngological examination, and collection of anthropometric measurements of all volunteers were performed. Volunteers were classified according to their anatomical features of the upper airway and facial skeleton. After 8 years, volunteers were invited for reevaluation. The relationship between anatomical characteristics and polysomnographic evolution was evaluated. RESULTS: The study included 554 patients. After 8 years of follow-up, there was an increase in neck circumference and body mass index of the participants. There was a worsening in all polysomnographic parameters analyzed, with an increase in the apnea-hypopnea index, a decrease in minimum saturation values, and an increase in the percentage of sleep time with peripheral oxyhemoglobin saturation <90%. There was no statistical relationship between the anatomical findings considered unfavorable and the worsening of polysomnographic parameters. CONCLUSIONS: In a sample of the general population, after 8 years, we did not find any relationship between upper airway and facial skeleton characteristics and the progression of OSA.

15.
Mol Syndromol ; 14(4): 310-321, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37766825

ABSTRACT

Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined. Case Presentation: We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (>80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. Discussion: Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose PC, NDUFV1, FGF3, FGF4, and DHCR7 as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of FGF3/4 were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved.

16.
Childs Nerv Syst ; 39(12): 3349-3359, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37698651

ABSTRACT

The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing. A recent focus on the expansion of the posterior cranial vault as a primary procedure with the greater volume change allows a delay in fronto-orbital advancement and reduced need for repeat surgery. We herein describe three cases of complex multisuture craniosynostosis with cloverleaf skull deformity who underwent neonatal posterior cranial vault decompression along with foramen magnum decompression. Our report examines the safety and rationale for this pre-emptive surgical approach to simultaneously deal with the cranial vault and craniocervical junction abnormalities and thus change the early trajectory of these complex cases.


Subject(s)
Craniosynostoses , Infant, Newborn , Humans , Infant , Craniosynostoses/diagnostic imaging , Craniosynostoses/surgery , Skull/diagnostic imaging , Skull/surgery , Reoperation
17.
Bone ; 176: 116887, 2023 11.
Article in English | MEDLINE | ID: mdl-37634683

ABSTRACT

PRMT1 deficiency leads to severely compromised craniofacial development in neural crest cells and profound abnormalities of the craniofacial tissues. Here, we show PRMT1 controls several key processes in calvarial development, including frontal and parietal bone growth rate and the boundary between sutural and osteogenic cells. Pharmacologic PRMT1 inhibition suppresses MC3T3-E1 cell viability and proliferation and impairs osteogenic differentiation. In this text, we investigate the cellular events behind the morphological changes and uncover an essential role of PRMT1 in simulating postnatal bone formation. Inhibition of PRMT1 alleviated BMP signaling through Smads phosphorylation and reduced the deposition of the H4R3me2a mark. Our study demonstrates a regulatory mechanism whereby PRMT1 regulates BMP signaling and the overall properties of the calvaria bone through Smads methylation, which may facilitate the development of an effective therapeutic strategy for craniosynostosis.


Subject(s)
Methyltransferases , Osteogenesis , Methylation , Skull , Arginine
18.
Seizure ; 111: 138-146, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37633153

ABSTRACT

PURPOSE: PHF21A has been associated with intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Here, we report a new patient with IDDBCS and review previously reported patients. METHODS: We reviewed the phenotypic and genetic spectrum of the newly diagnosed patient and previously reported patients with IDDBCS. RESULTS: Among 12 patients (11 whose cases were previously reported and the patient whose case we report here), all patients (100%) had intellectual disability (ID) and motor development delay. Three of 8 patients (37.5%) for whom information on cognition was available had severe ID; ID was moderate in two patients (25%) and mild in three patients (37.5%). Seven of the 12 patients (58.33%) had an epileptic phenotype, and the majority (5/7, 71.42%) of affected individuals developed developmental and epileptic encephalopathy (DEE). Of the 5 patients with DEE, three developed infantile epileptic spasm syndrome (IESS). The seizures of 2 patients (2/5, 40%) were controlled by antiseizure medications. Overgrowth, ADHD, hypotonia, ASD, and sleep disorders were observed in 100%, 77.78%, 70%, 50%, and 33.33% of patients, respectively. All of the variants (100%) were de novo heterozygous variants. Three of the 12 patients (25%) had the same variant (p.Arg580*). The most common types of variants were frameshift variants (7/12, 58.33%), followed by nonsense variants (4/12, 33.33%) and missense variants (1/12, 8.33%). Genotype-phenotype relationships for IDDBCS were uncertain, as phenotypic variability was observed among patients with the same variant (p.Arg580*). The patient whose case we report here had a novel PHF21A gene variant (p.Gln97fs*20), which caused neurodevelopmental delay, macrocephaly, and IESS. CONCLUSION: The core phenotypes of IDDBCS include neurodevelopmental delay (intellectual disability and impaired motor skills), craniofacial abnormalities, and overgrowth. ADHD, hypotonia, epilepsy, ASD, and sleep disorders are common symptoms of IDDBCS. Notably, DEE is the dominant phenotype of epilepsy, especially IESS. PHF21A may be a candidate gene for DEE. De novo variants are the main mode of inheritance. The most common types of variants are frameshift variants, and the variant p.Arg580* in PHF21A is located at a mutation hot spot.

19.
J Orofac Orthop ; 2023 Jul 04.
Article in English | MEDLINE | ID: mdl-37401944

ABSTRACT

OBJECTIVES: The extent of undetected incidental findings in routine orthodontic radiographs is still unknown. However, incidental findings that are not in the primary focus of orthodontic diagnostics may be of high medical relevance. Therefore, this study aimed to analyse whether incidental findings are reliably detected and which parameters influence the orthodontist's assessment. METHODS: In a clinical cross-sectional study 134 orthodontists evaluated two orthopantomogram (OPT) and two lateral cephalogram (LC) radiographs each via a standardised online survey. The radiographs were previously examined by three dentists and one radiologist-in a pilot phase-regarding the number of incidental findings and subsequently defining as gold standard in a consensus procedure. The radiographs were presented consecutively, the number of incidental findings detected were noted and the individual findings could be described in free text form. RESULTS: Overall, 39.1% of the incidental findings were detected. The orthodontists' focus was primarily on the dental region. Here, 57.9% of incidental findings were detected, while 20.3% were detected in extradental regions (p < 0.001). A highly relevant finding of suspected arteriosclerotic plaque was detected in 7.5% of cases (OPT). Significantly more incidental findings were detected on OPTs than on LCs (OPT 42.1%, LC 36.0%, p < 0.001). As participants' length of professional experience increased, significantly more time was spent on the assessment (p < 0.001), correlating positively with the detection of incidental findings. CONCLUSIONS: Even in daily routine practice, attention must be paid to a thorough assessment of all radiographed regions. The factors time and professional experience can prevent practitioners from overlooking findings outside the orthodontic focus.

20.
Dev Neuropsychol ; 48(5): 215-247, 2023 07 04.
Article in English | MEDLINE | ID: mdl-37341559

ABSTRACT

There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between SSC and cognition, a systematic literature search was conducted and eligible studies assessed for inclusion by two independent readers. Forty-eight studies met inclusion criteria. Small to medium but persistent effects on both general and some specific cognitive functions across age bands were found in higher quality studies for SSC overall. There was limited evidence for effects related to surgical correction. Methodologies varied substantially and there was a lack of longitudinal studies using broad assessment batteries.


Subject(s)
Craniosynostoses , Humans , Craniosynostoses/complications , Craniosynostoses/surgery , Craniosynostoses/psychology , Cognition , Longitudinal Studies , Sutures
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