Patient 1, a 3-year-6-month-old male, presented with feeding difficulties and delayed motor development. He exhibited poor responsiveness at birth, weak crying, intellectual and motor delays, low immunity, recurrent respiratory infections, hypotonia of the limbs, and distinctive facial features (low-set ears, double chin, and high arched palate), as well as a single transverse palmar crease on the right hand. Genetic testing revealed a c.1096C>T heterozygous variant in the SMARCB1 gene. Patient 2, a 3-year-old male, presented with developmental delay and distinctive facial features. Genetic testing identified the same pathogenic mutation as in Patient 1. The two patients are unrelated, and clinical phenotyping and genetic testing confirmed both cases as Coffin-Siris syndrome type 3. Coffin-Siris syndrome is a rare genetic disorder, and early genetic testing can aid in diagnosis.
Child, Preschool ; Humans ; Male ; Abnormalities, Multiple/genetics* ; Chromosomal Proteins, Non-Histone/genetics* ; Ear/abnormalities* ; Face/abnormalities* ; Hand Deformities, Congenital/genetics* ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Mutation ; Neck/abnormalities*

BACKGROUND: The protective effectiveness of an N95 respirator depends on the filtration efficiency of the material from which the N95 respirator is made of, as well as the wearers' facial fit. The facial fit of an N95 respirator mainly depends on the degree of matching between the wearers' facial dimension characteristics and the N95 respirator. Quantitative fit testing objectively evaluates the fit of N95 respirators; however, it is not easy to promote because of the limitations of testing conditions. The aim of this study is to establish a fit prediction model of N95 respirator based on facial images. METHODS: Facial images and fit factor (FF) value of 5 N95 respirators were gathered from 299 medical staffs in 10 hospitals in Beijing. Face geometry measurement was based on 3D face modelling, and the American TSI-8038 Porta Count Pro+ was used to conduct quantitative fit test. Multiple linear regression analysis was employed to identify facial dimensional features that significantly influenced the fit of N95 respirators. Through matching training of facial image and FF values, a fit prediction model has been established, enabling rapid recommendation of N95 respirators meeting the fit standard via facial image recognition. RESULTS: A fit prediction model for N95 respirators based on facial images has been developed, which enables the rapid recommendation of N95 respirators with acceptable FF value for healthcare personnel. The model demonstrated an accuracy of 55.93%, a precision of 98.43%, a recall of 51.65%, and an F1 score of 0.68. CONCLUSIONS It is feasible to utilize computer-based facial recognition technology to rapidly recommend N95 respirators for medical personnel. Given the high level of accuracy achieved, the model demonstrates significant potential for practical application.
Humans ; Face/anatomy & histology* ; N95 Respirators/standards* ; Male ; Adult ; Female ; Middle Aged ; Beijing

OBJECTIVE: To compare the registration accuracy of cone beam computed tomography (CBCT) images while registering to virtual craniodentofacial patients based on soft tissue and the dentition registration method. METHODS: Virtual dentofacial patients out of 13 selected participants who needed CBCT scanning were established by impression with a registered-block impression (RBI) based on digital dental images, three-dimensional (3D) facial images and maxillofacial CBCT images. CBCT images were processed in the Mimics software program, establishing the craniofacial virtual patients based on CBCT images (CCTs). Registration between virtual patients from RBI and CCT, using the soft tissue in lower half face (STE) and dentition (DTN) as the reference area, respectively, forming two kinds of virtual craniofacial patients based on digital dental images, 3D facial images and skeletal images of CBCT (hiding the soft tissue and dental casts from CBCT). Three-dimensional deviation analysis was performed in the upper half face and lower half face of facial images from CBCT between two kinds of virtual craniodentofacial patients and compared with 3D facial images from RBI and recorded as root mean square error (RMSE). Paired-t test was used to compare the deviations of RMSEs between the upper and lower half of the face and the upper half of the face of facial images from CCT, respectively, between the two kinds of virtual craniodentofacial patients based on STE and DTN methods. RESULTS: Paired-t tests showed that there was no statistically significant difference between the upper and lower half faces of facial images from CCT between STE and DTN (P>0.05), but the deviation of RMSEs of the upper half face of facial images from CCT in STE was smaller than those in DTN [(1.696±0.420) mm vs. (1.752±0.424) mm, P < 0.01]. CONCLUSION The registration accuracy of CBCT registered in virtual craniodentofacial patients using soft tissue as the reference area was higher.
Humans ; Cone-Beam Computed Tomography/methods* ; Imaging, Three-Dimensional/methods* ; Male ; Face/anatomy & histology* ; Female ; Adult ; Image Processing, Computer-Assisted/methods* ; Young Adult ; User-Computer Interface

OBJECTIVE: To investigate the changes and symmetry of facial soft tissue during posed smile, to analyze the feature of posed smile in different gender, and verify the reproducibility of posed smile. METHODS: Three-dimensional (3D) facial images of 41 adults (16 males and 25 females with an average age of 26.76±2.70 years) which were taken by FaceScan three-dimensional sensor, including one rest position and two posed smile images. Then these images were imported into 3D soft tissue analysis software for model repositioning. 3D morphable model method (3DMM) was carried out to automatic landmarks setting. After that, the measurement of the eyes, cheeks, nose and perioral area were carried out for 3D soft tissue analysis. Finally, the changes and symmetry of the soft tissues between the two expression states and the gender differences during the posed smiles were compared. Meanwhile, the reproducibility of posed smile was statistically tested. RESULTS: Compared with the rest position, except for nasolabial angle (1.45°±7.65°), the measurements of 3D soft tissue in other region were changed in posed smile (P < 0.001). It should be noted that the eye region was also significantly changed (P < 0.001). Furthermore, the prominent feature of posed smile was that the alar base length became longer, the upper and lower vermilions were narrow and thin, and the mentolabial furrows became shallow. Meanwhile the chin extended anteriorly while the mouth retracted; During posed smile, the labial fissure asymmetry [2.78 (1.73, 3.49) mm], mid-infraorbital asymmetry [2.36 (1.22, 3.27) mm] and outercanthal asymmetry [2.31(1.29, 2.80) mm] were most apparent. Compared with the rest position, the asymmetry was not significantly increased except for cheilion and alar curvature points during the posed smile (P>0.05). In the posed smile, the changes of the right palpebral fissure height and the thickness of lower vermilion (|Li-Stoi| _z) of males were greater than those of females (P < 0.05), and asymmetry of exocanthion and cheekbone increased more than that of females (P < 0.05). There was no obvious difference between the two posed smiles. CONCLUSION In this study, during the posed smile the soft tissues of the eyes, cheeks, nose, lips and chin changed in different degrees, and the asymmetry of cheilion and alar curvature point was greater than that of the rest position; In addition, the reproducibility of posed smile was excellent, which can be a reference for clinical aesthetics and functional research of smile.
Humans ; Smiling/physiology* ; Female ; Male ; Adult ; Imaging, Three-Dimensional/methods* ; Face/anatomy & histology* ; Young Adult ; Facial Expression

Objective:This aims to investigate the diagnostic and evaluative value of MRI for lymphatic malformations in the head, neck, and facial regions of children. Methods:A retrospective analysis was conducted on the MRI imaging data of 31 cases of head, neck, and facial lymphatic malformations in children admitted to the Department of Otolaryngology, Head and Neck Surgery, Children's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, from January 2022 to January 2024. Results:The MRI images of this group of cases primarily displayed irregular morphology（80.6%, 25/31）, thin-walled cysts（80.6%, 25/31）, and compression of surrounding tissues. The boundaries were clear（100%, 31/31）, with characteristics of invasive and drill-like growth（93.5%）. The cyst walls or internal septa exhibited high signal intensity on T1WI, low signal intensity on T2WI, and mild to moderate enhancement（100%）. The contents of the cysts showed low signal intensity on T1WI, high signal intensity on T2WI, and no enhancement（35.5%, 11/31）. Mixed signals with varying degrees of enhancement were observed in 20 cases（64.5%）. There were 29 cases of multilocular cysts（93.5%, 29/31）, and 11 cases of fluid-fluid levels（35.5%）. The MRI diagnostic accuracy for this group of cases was 100%. Conclusion:Lymphatic Malformations of head, neck and facial region in children have very characteristic features on MRI, such as typical thin wall, clear boundaries, irregular shapes, invasive growth, no enhancement, multilocular cystic masses, fluid-fluid level, etc. Furthermore, it is more appropriate for children with lymphatic malformations owing to its non-radiation and non-invasive benefits. Diagnosing lymphatic malformations in the head, neck, and facial region in children should begin with this.
Humans ; Retrospective Studies ; Lymphatic Abnormalities/diagnostic imaging* ; Magnetic Resonance Imaging ; Neck/diagnostic imaging* ; Head/diagnostic imaging* ; Face/diagnostic imaging* ; Child ; Male ; Female ; Child, Preschool ; Adolescent ; Infant

In recent years, prone mechanical ventilation has been widely used to improve oxygenation dysfunction in critically ill patients. During prone mechanical ventilation, the patient's face is compressed for a long time, and due to the difficulty in changing, facial pressure injuries and ocular complications are common and severe. These complications increase patient discomfort, reduce their tolerance and compliance with prone ventilation, and even cause tracheal tube displacement or dislodgement, leading to significant clinical challenges. In order to change this situation, the medical staff of the department of critical care medicine of the Second People's Hospital of Hengshui and the department of critical care medicine of Harrison International Peace Hospital had developed an adjustable facial support pad for prone ventilation, and obtained a National Utility Model Patent of China (ZL 2022 2 3295294.4). The device is composed of a facial support platform, a supporting telescopic foot frame and so on. There are front, back, left and right adjustable tracks below the support cushion platform, which can be adjusted to the best state suitable for the patient's face shape, which can alleviate the facial pressure injuries and ocular complications caused by the different sizes of each patient's face, improve the patient's comfort, and reduce the incidence of facial pressure injury and the occurrence of ocular complications of the patient. The height of the platform is adjusted by the telescopic feet, and there is a hook assembly below, which can be fixed by the clamp of the ventilator tubing, so as to prevent the ventilator tubing from pulling the endotracheal intubation due to the gravity of condensation, resulting in the displacement or even prolapse of the tracheal intubation, and reducing the occurrence of adverse events of tracheal intubation. It is worth promoting in the clinic.
Humans ; Respiration, Artificial/methods* ; Prone Position ; Equipment Design ; Face

OBJECTIVE: To identify the key features of facial and tongue images associated with anemia in female populations, establish anemia risk-screening models, and evaluate their performance. METHODS: A total of 533 female participants (anemic and healthy) were recruited from Shuguang Hospital. Facial and tongue images were collected using the TFDA-1 tongue and face diagnosis instrument. Color and texture features from various parts of facial and tongue images were extracted using Face Diagnosis Analysis System (FDAS) and Tongue Diagnosis Analysis System version 2.0 (TDAS v2.0). Least Absolute Shrinkage and Selection Operator (LASSO) regression was used for feature selection. Ten machine learning models and one deep learning model (ResNet50V2 + Conv1D) were developed and evaluated. RESULTS: Anemic women showed lower a-values, higher L- and b-values across all age groups. Texture features analysis showed that women aged 30-39 with anemia had higher angular second moment (ASM)and lower entropy (ENT) values in facial images, while those aged 40-49 had lower contrast (CON), ENT, and MEAN values in tongue images but higher ASM. Anemic women exhibited age-related trends similar to healthy women, with decreasing L-values and increasing a-, b-, and ASM-values. LASSO identified 19 key features from 62. Among classifiers, the Artificial Neural Network (ANN) model achieved the best performance [area under the curve (AUC): 0.849, accuracy: 0.781]. The ResNet50V2 model achieved comparable results [AUC: 0.846, accuracy: 0.818]. CONCLUSION Differences in facial and tongue images suggest that color and texture features can serve as potential TCM phenotype and auxiliary diagnostic indicators for female anemia.
Humans ; Female ; Tongue/diagnostic imaging* ; Adult ; Anemia/diagnosis* ; Middle Aged ; Face/diagnostic imaging* ; Young Adult ; Machine Learning

OBJECTIVES: This study aimed to analyze the correlations and proportional relationships between maxillary anterior teeth (MAT) and facial measurements in Han Chinese individuals with the most attractive smiles, as evaluated by dental professionals. METHODS: Ten dentists with more than 5 years of clinical experience from different professional directions in a tertiary stomatological hospital were selected to evaluate the smile attractiveness of volunteers by visual analogue scale (VAS). Eighty-eight Han volunteers with the most attractive smile were selected. The perceived width of the MAT, the dimensions (height and width) of the maxillary central incisors (MCI), and the facial dimensions (intercanthal distance, interzygomatic distance, interalar distance, facial height and lower facial height) of the volunteers were measured on the frontal photos of the smile, digital oral model, and 3D face model. Pearson correlation analysis was performed to analyze linear correlations, and regression analysis was carried out to explore the proportional relationships. Reliability analysis using the intraclass correlation coefficient verified the stability of these proportional relationships. In addition, the correlations between MAT perceived width and the proportional relationships of (MCI) height to width ratio, with facial dimensions were explored and their reliability was verified. RESULTS: In Han Chinese individuals with the most attractive smiles, as evaluated by dental professionals, the Pearson correlation coefficients among MAT perceived widths were 0.813, 0.389, and 0.560. A proportional relationship existed between the lateral incisor and central incisor, and the ratio was 0.729. No significant correlations were found between MCI and the inner canthal distance, zygomatic distance, interalar distance, facial height, or the lower one-third facial height except for a negative correlation (r=-0.357) between MCI height and facial height in males and a positive correlation (r=0.249) between MCI width and interalar width when genders were combined. CONCLUSIONS Correlations exist among MAT perceived widths in Han Chinese individuals with the most attractive smiles, as evaluated by dental professionals. Partial correlations are observed between MCI height and width and facial measurements. The perceived width of the lateral incisor can serve as a reference indicator for predicting the perceived width of the central incisor, providing a reference for the aesthetic restoration of MAT in the Han ethnicity population.
Adult ; Female ; Humans ; Male ; China ; Esthetics, Dental ; Face/anatomy & histology* ; Incisor/anatomy & histology* ; Maxilla/anatomy & histology* ; Smiling ; East Asian People

OBJECTIVE: To explore the clinical and genetic characteristics of fetuses with Kabuki syndrome (KS) and their genotype-phenotype correlation. METHODS: A retrospective analysis was carried out on the prenatal manifestations and results of genetic testing of six KS fetuses diagnosed by whole-exome sequencing (WES). The findings were compared with 28 prenatally diagnosed KS cases reported in the literature to summarize the prenatal features of KS. This study has been approved by the Ethics Committee of Maternal and Child Health Care Hospital of Hubei Province (Ethics No.: 2025-141-01). RESULTS: Prenatal ultrasound findings in KS fetuses showed high heterogeneity. The most common abnormalities were cardiac (23/35, 65.7%) and renal (20/35, 57.1%), which are often accompanied by amniotic fluid abnormalities (5/35, 14.3%), single umbilical artery (5/35, 14.3%), and fetal hydrops (4/35, 11.4%). Among the six fetuses from our center, all were identified by WES to harbor pathogenic variants of the KMT2D gene, and all of which were de novo. These included 3 frameshift variants, 2 nonsense variant, and 1 missense variant, among which 4 were unreported previously. CONCLUSION This study has expanded the mutational spectrum of the KMT2D gene. Prenatal ultrasound findings of KS lack specificity, though multi-system anomalies or specific soft markers may indicate KS. WES is an effective tool for the diagnosis, and KS should be included in the differential diagnosis list for prenatal cardiac and renal abnormalities.
Humans ; Hematologic Diseases/diagnostic imaging* ; Face/diagnostic imaging* ; Female ; Vestibular Diseases/diagnostic imaging* ; Abnormalities, Multiple/diagnostic imaging* ; Pregnancy ; Ultrasonography, Prenatal ; Adult ; Neoplasm Proteins/genetics* ; Retrospective Studies ; DNA-Binding Proteins/genetics* ; Male ; Exome Sequencing ; Fetus/diagnostic imaging* ; Genetic Association Studies ; Mutation

OBJECTIVE: To observe the clinical efficacy of stuck acupuncture combined with facial acupuncture for facial cosmetology. METHODS: A total of 22 female patients with symptoms of facial aging were treated with stuck acupuncture combined with facial acupuncture. Stuck acupuncture was applied at bilateral Taiyang (EX-HN5) through Xiaguan (ST7), Jiache (ST6) through Daying (ST5) and Yingxiang (LI20)，once a week. Facial acupuncture was applied at Yintang (GV24⁺), ashi points (nasolabial fold) and bilateral Yangbai (GB14), Quanliao (SI18), Sibai (ST2), Xiaguan (ST7), Dicang (ST4), Jiache (ST6), Daying (ST5), Renying (ST9), twice a week. Four weeks were required. The global aesthetic improvement scale (GAIS) score after treatment, wrinkle severity rating scale (WSRS) score before and after treatment were observed. The quantitative analysis of skin characteristics was performed before and after treatment. RESULTS: After treatment, of the 22 patients, 3 cases had complete improvement, 15 cases had obvious improvement, 4 cases had partial improvement, 0 case had no improvement. The WSRS score and scores of wrinkles, textures and pores were decreased compared with those before treatment (P<0.01). CONCLUSION Stuck acupuncture combined with facial acupuncture could effectively improve the symptoms of facial aging.
Humans ; Female ; Acupuncture Therapy ; Middle Aged ; Adult ; Face ; Acupuncture Points ; Skin Aging ; Treatment Outcome ; Aged