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Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA. Methods: Next-generation sequencing analysis and Sanger sequencing of exons 24–35 of FBN2 (NM_001999.4) were performed on the three CCA pedigrees. The pathogenicity of the variants was assessed using ACMG criteria and predicted using an in-silico program. Results: A novel heterozygous substitution (NM_001999.4: c.3230G > A; NP_001990.2 p. Cys1077Tyr) was identified in all patients from pedigree A, but not in healthy family members. The variant was found to be pathogenic. Additionally, in pedigree B (NM_001999.4: c.4222G > A; NP_001990.2: p.Asp1408Asn) and C (NM_001999.4: c.3170G > A; NP_001990.2: p.Gly1057Asp), and the previously reported variants were detected. Variants affecting cysteine residues may disrupt disulfide bridging, leading to a weakened microfibril scaffold, resulting in CCA phenotypes. High phenotypic heterogeneity was observed among different families, and there was little correlation between the genotype and phenotype. Conclusion: This study describes three large families with CCA caused by missense variants in the FBN2 gene. Phenotypic variations were observed among different pedigree groups, and further research is needed to investigate the underlying reasons for these variations.

PurposeThis study aims to explore the value of clinical features, CT imaging signs, and radiomics features in differentiating between adults and children with Mycoplasma pneumonia and seeking quantitative radiomic representations of CT imaging signs.Materials and methodsIn a retrospective analysis of 981 cases of mycoplasmal pneumonia patients from November 2021 to December 2023, 590 internal data (adults:450, children: 140) randomly divided into a training set and a validation set with an 8:2 ratio and 391 external test data (adults:121; children:270) were included. Using univariate analysis, CT imaging signs and clinical features with significant differences (p

Infertility affects approximately 10–15% of couples worldwide who are attempting to conceive, with male infertility accounting for 50% of infertility cases. Male infertility is related to various factors such as hormone imbalance, urogenital diseases, environmental factors, and genetic factors. Owing to its relationship with genetic factors, male infertility cannot be diagnosed through routine examination in most cases, and is clinically called ‘idiopathic male infertility.’ Recent studies have provided evidence that microRNAs (miRNAs) are expressed in a cell-or stage-specific manner during spermatogenesis. This review focuses on the role of miRNAs in male infertility and spermatogenesis. Data were collected from published studies that investigated the effects of miRNAs on spermatogenesis, sperm quality and quantity, fertilization, embryo development, and assisted reproductive technology (ART) outcomes. Based on the findings of these studies, we summarize the targets of miRNAs and the resulting functional effects that occur due to changes in miRNA expression at various stages of spermatogenesis, including undifferentiated and differentiating spermatogonia, spermatocytes, spermatids, and Sertoli cells (SCs). In addition, we discuss potential markers for diagnosing male infertility and predicting the varicocele grade, surgical outcomes, ART outcomes, and sperm retrieval rates in patients with non-obstructive azoospermia (NOA).

Monoisopropanolamine carbonate is a green, safe, and environmentally friendly non-chlorofluorinated polyurethane chemical foaming agent (CFA-1) that can react directly and rapidly with isocyanate to release carbon dioxide for foaming purposes. In this study, we investigated a mixed system of CFA-1, 1,1,1,3,3-pentafluoropropane (HFC-245fa), and cyclopentane (CP) to evaluate its foaming flow performance in refrigerator insulation material applications. We also examined various performance indicators of the resulting foam materials, such as compressive strength, closed cell ratio, and thermal conductivity. The experimental results demonstrated that by adding CFA-1 as a foaming agent, the density and dimensional stability of the foam were comparable to those achieved with the CP + water or CP + HFC-245fa system. In addition, there was a slight improvement in the closed cell ratio and compressive strength, which led to a reduction in the cell diameter within the CP + CFA-1 foaming system compared with those in both CP + water (28.79% decrease) and CP + HFC-245fa (26.11% decrease) systems. This optimized foam material exhibited an enhanced thermal insulation performance, with a 4.20% lower thermal conductivity compared to the CP + water system and 1.88% compared to the CP + HFC-245fa system. Replacing the HFC-245fa physical blowing agent with CFA-1 to prepare low-energy refrigerator insulation materials using rigid polyurethane foam technology offers significant benefits, including eliminating chlorofluorocarbon usage while reducing greenhouse gas emissions.

Abstract Biomimetic mechanosensors have profound implications for various areas, including health care, prosthetics, human‒machine interfaces, and robotics. As one of the most important parameters, the sensitivity of mechanosensors is intrinsically determined by the detection resolution to mechanical force. In this manuscript, we expand the force detection resolution of current biomimetic mechanosensors from the micronewton to nanonewton scale. We develop a nanocrack-based electronic whisker-type mechanosensor that has a detection resolution of 72.2 nN. We achieve the perception of subtle mechanical stimuli, such as tiny objects and airflow, and the recognition of surface morphology down to a 30 nm height, which is the finest resolution ever reported in biomimetic mechanosensors. More importantly, we explore the use of this mechanosensor in wearable devices for sensing gravity field orientation with respect to the body, which has not been previously achieved by these types of sensors. We develop a wearable smart system for sensing the body’s posture and movements, which can be used for remote monitoring of falls in elderly people. In summary, the proposed device offers great advantages for not only improving sensing ability but also expanding functions and thus can be used in many fields not currently served by mechanosensors.

Abstract Background The gut microbiome is a critical modulator of host immunity and is linked to the immune response to respiratory viral infections. However, few studies have gone beyond describing broad compositional alterations in severe COVID-19, defined as acute respiratory or other organ failure. Methods We profiled 127 hospitalized patients with COVID-19 (n = 79 with severe COVID-19 and 48 with moderate) who collectively provided 241 stool samples from April 2020 to May 2021 to identify links between COVID-19 severity and gut microbial taxa, their biochemical pathways, and stool metabolites. Results Forty-eight species were associated with severe disease after accounting for antibiotic use, age, sex, and various comorbidities. These included significant in-hospital depletions of Fusicatenibacter saccharivorans and Roseburia hominis, each previously linked to post-acute COVID syndrome or “long COVID,” suggesting these microbes may serve as early biomarkers for the eventual development of long COVID. A random forest classifier achieved excellent performance when tasked with classifying whether stool was obtained from patients with severe vs. moderate COVID-19, a finding that was externally validated in an independent cohort. Dedicated network analyses demonstrated fragile microbial ecology in severe disease, characterized by fracturing of clusters and reduced negative selection. We also observed shifts in predicted stool metabolite pools, implicating perturbed bile acid metabolism in severe disease. Conclusions Here, we show that the gut microbiome differentiates individuals with a more severe disease course after infection with COVID-19 and offer several tractable and biologically plausible mechanisms through which gut microbial communities may influence COVID-19 disease course. Further studies are needed to expand upon these observations to better leverage the gut microbiome as a potential biomarker for disease severity and as a target for therapeutic intervention.

ABSTRACTPulmonary anthrax is the most fatal clinical form of anthrax and currently available injectable vaccines do not provide adequate protection against it. Hence, next-generation vaccines that effectively induce immunity against pulmonary anthrax are urgently needed. In the present study, we prepared an attenuated and low protease activity Bacillus anthracis strain A16R-5.1 by deleting five of its extracellular protease activity-associated genes and its lef gene through the CRISPR-Cas9 genome editing system. This mutant strain was then used to formulate a lethal toxin (LeTx)-free culture supernatant extract (CSE) anthrax vaccine, of which half was protective antigen (PA). We generated liquid, powder, and powder reconstituted formulations that could be delivered by aerosolized intratracheal inoculation. All of them induced strong humoral, cellular, and mucosal immune responses. The vaccines also produced LeTx neutralizing antibodies and conferred full protection against the lethal aerosol challenges of B. anthracis Pasteur II spores in mice. Compared to the recombinant PA vaccine, the CSE anthrax vaccine with equal PA content provided superior immunoprotection against pulmonary anthrax. The preceding results suggest that the CSE anthrax vaccine developed herein is suitable and scalable for use in inhalational immunization against pulmonary anthrax.

Achilles tendon (AT) injury is one of the most common tendon injuries, especially in athletes, the elderly, and working-age people. In AT injury, the biomechanical properties of the tendon are severely affected, leading to abnormal function. In recent years, many efforts have been underway to develop effective treatments for AT injuries to enable patients to return to sports faster. For instance, several new techniques for tissue-engineered biological augmentation for tendon healing, growth factors (GFs), gene therapy, and mesenchymal stem cells were introduced. Increasing evidence has suggested that GFs can reduce inflammation, promote extracellular matrix production, and accelerate AT repair. In this review, we highlighted some recent investigations regarding the role of GFs, such as transforming GF-β(TGF-β), bone morphogenetic proteins (BMP), fibroblast GF (FGF), vascular endothelial GF (VEGF), platelet-derived GF (PDGF), and insulin-like GF (IGF), in tendon healing. In addition, we summarized the clinical trials and animal experiments on the efficacy of GFs in AT repair. We also highlighted the advantages and disadvantages of the different isoforms of TGF-β and BMPs, including GFs combined with stem cells, scaffolds, or other GFs. The strategies discussed in this review are currently in the early stages of development. It is noteworthy that although these emerging technologies may potentially develop into substantial clinical treatment options for AT injury, definitive conclusions on the use of these techniques for routine management of tendon ailments could not be drawn due to the lack of data.

Introduction: Poly(1,3-trimethylene carbonate) (PTMC) is a flexible amorphous polymer with good degradability and biocompatibility. The degradation of PTMC is critical for its application as a degradable polymer, more convenient and easy-to-control cross-linking strategies for preparing PTMC are required.Methods: The blends of poly(trimethylene carbonate) (PTMC) and cross-linked poly(ethylene glycol) diacrylate (PEGDA) were prepared by mixing photoactive PEGDA and PTMC and subsequently photopolymerizing the mixture with uv light. The physical properties and in vitro enzymatic degradation of the resultant PTMC/cross-linked PEGDA blends were investigated.Results: The results showed that the gel fraction of PTMC/cross-linked PEGDA blends increased while the swelling degree decreased with the content of PEGDA dosage. The results of in vitro enzymatic degradation confirmed that the degradation of PTMC/cross-linked PEGDA blends in the lipase solution occurred under the surface erosion mechanism, and the introduction of the uv cross-linked PEGDA significantly improved the resistance to lipase erosion of PTMC; the higher the cross-linking degree, the lower the mass loss.Discussion: The results indicated that the blends/cross-linking via PEGDA is a simple and effective strategy to tailor the degradation rate of PTMC.

Successful exploitation of carbonate reservoirs relies on the acid-fracturing process, while the thickeners used in this process play a key role. It is a common engineering problem that thickeners usually fail to function when used in high-temperature environments. Until now, no research has ventured into the field of synthesizing thickeners which can be effectively used at ultra-high temperatures up to 180 °C. In our current study, a novel high-temperature-resistant polyacrylamide thickener named SYGT has been developed. The thermal gravimetric analysis (TGA) reveals that SYGT is capable of withstanding temperatures of up to 300 °C. Both our scanning electron microscopy (SEM) and rheological analysis demonstrate that the SYGT exhibits excellent resistance to both temperature and shear. At 180 °C, the viscosity of the SYGT aqueous solution is no lower than 61.7 mPa·s at a 20% H+ concentration or high salt concentration, and the fracture conductivity of the thickened acid reaches 6 D·cm. For the first time, the influence of the polymer spatial network’s structural parameters on the viscosity of polymer solutions has been evaluated quantitatively. It was discovered that the length and surrounding area of the SNS skeleton have a synergistic effect on the viscosity of the polymer solution. Our experiments show that SYGT effectively reduces the acid–rock reaction rate and filtration loss under harsh working conditions such as high temperature, strong shear, high salinity, and a high concentration of acid. The synthesized acid-fracturing thickener (SYGT) has wide application potential in the development of carbonate reservoirs under high-temperature conditions.

A series of pyrene-fused azaacene-type conjugated molecules containing two pyrazine units and up to eight rectilinearly arranged aromatic rings were prepared by condensation coupling reactions in moderate yields. The geometries and electronic structures associated with 2 and 5 were evaluated by DFT calculations. Photophysical properties indicated that these systems possess delocalized structures, and their optoelectronic properties can be tuned by extending the π-conjugated length and introducing electronic-withdrawing groups. The compounds were thoroughly investigated by XRD studies, electrochemistry and DFT calculations. High thermal stability and tunable energy levels make them excellent candidates as a class of organic molecular materials.

Abstract The incidence and mortality of hepatocellular carcinoma (HCC) are gradually increasing during the past years. Recently, some studies have reported that malic enzyme (ME) plays an important role in cancer development, while the involvement of ME2 in HCC remains still undetermined. Here, we demonstrated that ME2 played an oncogenic role in HCC. ME2 was overexpressed in HCC tissues. TCGA database showed that the ME2 transcript level was inversely associated with the survival of HCC patients. Loss‐of‐function and gain‐of‐function assays showed that ME2 promoted HCC cell growth and migration. Furthermore, the xenografted tumorigenesis of MHCC97H cells was retarded by ME2 knockdown. ME2 silencing also suppressed the cell cycle process and induced apoptosis. Mechanistically, ME2 potentiated triglyceride synthesis, inhibition of which suppressed the proliferation and migration. We propose that ME2 promotes HCC progression by increasing triglyceride production.

ABSTRACT Features of the airway microbiome in persons with cystic fibrosis (pwCF) are correlated with disease progression. Microbes have traditionally been classified for their ability to tolerate oxygen. It is unknown whether supplemental oxygen, a common medical intervention, affects the airway microbiome of pwCF. We hypothesized that hyperoxia significantly impacts the pulmonary microbiome in cystic fibrosis. In this study, we cultured spontaneously expectorated sputum from pwCF in artificial sputum medium under 21%, 50%, and 100% oxygen conditions using a previously validated model system that recapitulates microbial community composition in uncultured sputum. Culture aliquots taken at 24, 48, and 72 h, along with uncultured sputum, underwent shotgun metagenomic sequencing with absolute abundance values obtained with the use of spike-in bacteria. Raw sequencing files were processed using the bioBakery pipeline to determine changes in taxonomy, predicted function, antimicrobial resistance genes, and mobile genetic elements. Hyperoxia reduced absolute microbial load, species richness, and diversity. Hyperoxia reduced absolute abundance of specific microbes, including facultative anaerobes such as Rothia and some Streptococcus species, with minimal impact on canonical CF pathogens such as Pseudomonas aeruginosa and Staphylococcus aureus. The effect size of hyperoxia on predicted functional pathways was stronger than that on taxonomy. Large changes in microbial cooccurrence networks were noted. Hyperoxia exposure perturbs airway microbial communities in a manner well tolerated by key pathogens. Supplemental oxygen use may enable the growth of lung pathogens and should be further studied in the clinical setting. IMPORTANCE The airway microbiome in persons with cystic fibrosis (pwCF) is correlated with lung function and disease severity. Supplemental oxygen use is common in more advanced CF, yet its role in perturbing airway microbial communities is unknown. By culturing sputum samples from pwCF under normal and elevated oxygen conditions, we found that increased oxygen led to reduced total numbers and diversity of microbes, with relative sparing of common CF pathogens such as Pseudomonas aeruginosa and Staphylococcus aureus. Supplemental oxygen use may enable the growth of lung pathogens and should be further studied in the clinical setting.

Aiming at improving the acid fracturing effect of carbonate reservoirs at high temperatures, reaction kinetics and acid fracture conductivity of five high-temperature sustained-release acids were investigated. The experimental results show that viscous acid, gelled acid II, authigenic acid I, and gelled acid I have the highest rate constant, respectively. It was found that as the temperature increases, the reaction order of gelled acid I, viscous acid, and authigenic acid II decreases, while the reaction order of gelled acid II and authigenic acid I increase first and then decreases. Among the studied cases, the maximum reaction rate is 4.46 × 10−5 mol/(L·s), which was achieved in gelled acid I. Variations of the reaction rate indicate that gelled acid I is in the “saturation state of the reaction’’. At a closing pressure of 40 MPa and a temperature of 150 °C, the acid corrosion fracture conductivity of gelled acid I is the largest, reaching 7.45 × 10−2 μm2 m, the fracture conductivity of authigenic acid I was higher than that of autogenic acid II, and the conductivity of the viscous acid was the lowest.

Pucheng district is a part of the Wuyi Mountain polymetallic metallogenic belt, which is constituted by Archean-Proterozoic metamorphic basements and Mesozoic volcanic-sedimentary covers. Uranium deposits are formed as volcanic-hosted and structural controls. In this study, the hybrid data-driven methods of logistic regression (LR) and weights of evidence (WofE) were applied for the mineral potential mapping of uranium in the Pucheng district. Evidential layers such as volcanic stratum, structure, igneous rock, alteration and radioactive anomaly were used in the mineral prospectivity analyses. The results show that the data-driven methods can not only measure the relative importance of each type of geological feature in uranium controls but also delineate prospective grounds for uranium exploration. The receiver operating characteristics (ROC) curve and under the ROC curve (AUC) were applied to measure the performance of the prospectivity models. The data-driven models are highly capable of mapping uranium prospectivity because AUC is close to 1. The results show that more than 90% of the known uranium deposits occur in regions with high probability. LR performs a little better than WofE in this area. The prospectivity mapping confirmed that there is significant potential for uranium mineralization for further exploration.

Abstract Background Milroy disease (MD) is a rare, autosomal-dominant disorder. Variants in the Fms-related tyrosine kinase 4 (FLT4/VEGFR3) gene cause the symptoms of this disease. In this report, we investigated the variant in a large Chinese family with MD. Methods We conducted Sanger sequencing of exons 17–26 of FLT4/VEGFR3 (NM_182925.4). We assessed its pathogenicity based on the ACMG criteria and predicted it with an in silico program. Results A heterozygous substitution (NM_182925.4 (FLT4/VEGFR3):c.2774 T>A, p. (Val925Glu)) was detected in all patients with MD but not in any healthy controls. The variant was evaluated as pathogenic according to the ACMG criteria and was predicted to be pathogenic using an in silico program. Conclusions In this report, we described a large family with MD caused by a missense variant in FLT4/VEGFR3 (NM_182925.4 (FLT4/VEGFR3_v001):c.2774 T>A, p. (Val925Glu)). There are phenotypic heterogeneities among family members, and further research should be conducted to explore the possible reasons.

Polyurethane foams are well-known optimal thermal-insulating materials, which have good thermal insulation performance, high strength, and lightweight properties. Here, we describe a chlorine-free and fluorine-free polyurethane chemical foaming agent (CFA-1) that can react with isocyanate to release CO2 gas and foam polyurethane. We systematically studied its application performance in the field of polyurethane spraying by substituting the current most advanced and environment-friendly physical foaming agent 1-chloro-3,3,3-trifluoroprop-1-ene in different proportions. The results show that highly competitive mechanical properties lead to economical, environment-friendly, and efficient features. The lower thermal conductivity, more compact and smaller bubble structure, and excellent compression strength were achieved by tuning the proportion of CFA-1 from 20% to 60%. Thus, a promising material system was established for the development of the rigid polyurethane foam industry. [ABSTRACT FROM AUTHOR]

Membranes are of rapidly increasing interest due to their lightweight and deployable properties. The key challenge in the development of membranes is eliminating wrinkles to avoid possible shape accuracy loss and related performance degradation in the high-velocity/resolution/frequency fields. In this paper, the stiffness modulation through spatioselective coating technique is adopted and the optimal distribution of coating materials is determined by a non-gradient topology optimization algorithm. The related wrinkle-free mechanism and performance are respectively investigated using numerical analysis and physical experiment. Our wrinkle-free approach, having lower fabrication complexity and compatible with mature additive manufacturing technique, offers a simple yet robust and scalable technique to achieve wrinkle-free membranes without any area loss.

This article presents the quantitative findings from a mixed methods study of students and faculty at a private medical university in Malaysia. In particular, the relationships among students' individual characteristics, general self-efficacy, family context, university and classroom learning environments, curriculum, approaches to learning, and measures of students' academic achievement, self-directed learning readiness and mental health at the student level. Data were collected from 392 students attending a private medical university in Malaysia. The findings from the partial least square path analysis (PLSPATH) suggest that: (a) parental involvement continues to impact and influence student learning process, and related student outcomes, at the university level, and (b) a surface approach to learning is related to poor quality processes and outcomes and a deep approach to learning is related to high quality processes and outcomes. (Contains 3 figures, 3 tables and 2 footnotes.)

To prevent the formation of frozen hydrate blocks with the alternative injection of supercritical carbon dioxide and water after shut-in, the upper and lower interfaces of the frozen block sections in the injection well bore are calculated based on the temperature–pressure curves of the injection well and the hydrate phase equilibrium. The results show that for wells in which water and carbon dioxide are injected alternately, hydrate will be produced in the well bore after shut-in. the lower interfaces of the hydrate freeze plug in the well bore is above 141.36 m. Hydrate inhibitors can effectively prevent hydrate formation in wellbores, and the limit concentrations of methanol, ethanol, and ethylene glycol to inhibit hydrate freezing and blockage are 40%, 60%, 60%, respectively. In the initial state, there is a interface between the inhibitor and the formation water. The two-phase interface is blurred, and the inhibitor concentration in the upper part decreases when the wells have been shut for days. As the close-in time increased, the effective distance of action of the inhibitor decreased. The range of shut-in was 50–300 days, and the safety distance of the inhibitor should be controlled from 54 to 127 m below the frozen and blocked sections.

Abstract Objective This study aimed to identify the disease‐causing mutation of congenital cataract disease in a large northeastern Chinese family. Materials and Methods The subjects’ peripheral blood was collected, their genomic DNA was extracted, mutation screening of candidate genes was performed using polymerase chain reaction, and the amplified products were sequenced. Recombinant C‐terminal enhanced green fluorescent protein‐tagged wild‐type or mutant CRYGD was expressed in HEK293T cells, and the expression pattern was observed under a fluorescence microscope. The CRYGD protein mutation was analyzed via bioinformatics analysis. Results c.475delG, a novel frameshift mutation in CRYGD, was identified in the affected family members. This mutation causes premature termination of the polypeptide, resulting in truncated p.(Ala159ProfsTer9). According to the bioinformatics analysis results, compared with wild‐type CRYGD, p.(Ala159ProfsTer9) exhibits significantly decreased hydrophilicity. Fluorescence microscopy revealed that p.(Ala159ProfsTer9) aggregates in the cell in the form of granular deposits. Conclusion In this study, the novel frameshift mutation c.475delG, p.(Ala159ProfsTer9) in CRYGD was identified to cause congenital cataracts in a large Chinese family; increased hydrophobicity of p.(Ala159ProfsTer9) protein may be the underlying mechanism.

Both the host microbiome and the microbiome of the built environment can have profound impacts on human health. While prior studies have suggested that the variability introduced by DNA extraction method is less than typical biologic variation, most studies have focused on 16S rRNA amplicon sequencing or on high biomass fecal samples. Shotgun metagenomic sequencing provides advantages over amplicon sequencing for surveying the microbiome, but is a challenge to perform in lower microbial biomass samples with high human DNA content such as sputum or vacuumed dust. Here we systematically evaluate the impact of four different extraction methods (phenol:choloroform, and three high-throughput kit-based approaches, the Promega Maxwell gDNA, Qiagen MagAttract PowerSoil DNA, and ZymoBIOMICS 96 MagBead). We report the variation in microbial community structure and predicted microbial function assessed by shotgun metagenomics sequencing in human stool, sputum, and vacuumed dust obtained from ongoing cohort studies or clinical trials. The same beadbeating protocol was used for all samples to focus our evaluation on the impact of kit chemistries on sequencing results. DNA yield was overall highest in the phenol:choloroform and Promega approaches. Only the phenol:choloroform approach showed evidence of contamination in negative controls. Bias was evaluated using mock community controls, and was noted across all extraction methods, although Promega exhibited the least amount of bias. The extraction method did not impact the proportion of human reads, although stool had the lowest proportion of human reads (0.1%) as compared to dust (44.1%) and sputum (80%). We calculated Bray-Curtis dissimilarity and Aitchison distances to evaluate the impact of extraction method on microbial community structure by sample type. Extraction method had the lowest impact in stool (extraction method responsible for 3.0–3.9% of the variability), the most impact in vacuumed dust (12–16% of the variability) and intermediate values for sputum (9.2–12% variability). Similar differences were noted when evaluating microbial community function. Our results will inform investigators planning microbiome studies using diverse sample types in large clinical studies. A consistent DNA extraction approach across all sample types is recommended, particularly with lower microbial biomass samples that are more heavily influenced by extraction method.

Abstract Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene. Methods We reported a three‐generation family with Crouzon syndrome; the proband showed extremely severe limb abnormalities. The clinical features were obtained by physical examination and radiographic examination. Sanger sequencing of all 18 exons of FGFR2 was conducted to identify the disease‐causing mutation. Results The proband was a 44‐year‐old man who showed characteristics of Crouzon syndrome, including craniofacial dysostosis, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, short stature, and neck injection. In addition to these typical characteristics, radiographic examination showed severe scoliosis, heterotopic ossification of the elbows, knee osteoarthritis, metacarpophalangeal joint valgus, collapse of the articular surface of the thumb metacarpal, knuckle ossification and fusion. Sanger sequencing identified a heterozygous pathogenic variant c.799T>C, p.(Ser267Pro) in exon 7 of FGFR2 in affected individuals. Conclusion Crouzon syndrome in this three‐generation family was caused by c.799T>C FGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>C FGFR2.