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Clinical Dysmorphology最新文献

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Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes. 深度学习和可解释的人工智能支持的医疗决策在遗传综合征面部表型中的应用。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-10-08 DOI: 10.1097/MCD.0000000000000581
Ömer Sümer, Tobias Huber, Jiayi Cheng, Dat Duong, Suzanna E Ledgister Hanchard, Cristina Conati, Elisabeth André, Benjamin D Solomon, Rebekah L Waikel
{"title":"Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes.","authors":"Ömer Sümer, Tobias Huber, Jiayi Cheng, Dat Duong, Suzanna E Ledgister Hanchard, Cristina Conati, Elisabeth André, Benjamin D Solomon, Rebekah L Waikel","doi":"10.1097/MCD.0000000000000581","DOIUrl":"10.1097/MCD.0000000000000581","url":null,"abstract":"<p><strong>Objective: </strong>To conduct a pilot study to assess whether saliency-based explainable artificial intelligence (XAI) affects the recognition of genetic conditions from facial images.</p><p><strong>Methods: </strong>Forty-four medical geneticists, divided into AI-only and XAI-supported groups, assessed 18 images of individuals with or without genetic conditions. Diagnostic accuracy and confidence were recorded before and after viewing an AI classifier's prediction probability, with or without XAI explanations. Mediation analyses were conducted to better interpret how geneticists interact with AI and XAI in decision-making.</p><p><strong>Results: </strong>AI-only and XAI support improved accuracy for correct AI classifications, while incorrect AI classifications decreased accuracy. Average confidence increased with correct and decreased with incorrect classification. Geneticists reported that AI prediction probability was useful, whereas XAI explanations were viewed less favorably. For incorrect AI classifications, there was a negative correlation between accuracy improvement and perceived AI usefulness. When AI was correct (without XAI), the model prediction probability acted as a mediator between user confidence and the user's decision to choose the same answer as AI.</p><p><strong>Conclusion: </strong>The lack of accuracy or confidence improvements indicates that participants did not integrate saliency-based XAI into decisions. AI prediction probability had a greater impact on participants' decision-making. These data may help inform larger studies.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A prenatal-onset severe phenotype of SLC35A2-related congenital disorder of glycosylation associated with a mosaic hemizygous intronic variant. 产前发病的slc35a2相关先天性糖基化疾病与马赛克半合子内含子变异相关的严重表型。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-10-06 DOI: 10.1097/MCD.0000000000000583
Yukiko Kuroda, Tomoko Saito, Yasuhiro Kawai, Takuya Naruto
{"title":"A prenatal-onset severe phenotype of SLC35A2-related congenital disorder of glycosylation associated with a mosaic hemizygous intronic variant.","authors":"Yukiko Kuroda, Tomoko Saito, Yasuhiro Kawai, Takuya Naruto","doi":"10.1097/MCD.0000000000000583","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000583","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expanding the phenotype of GDI1-related neurodevelopmental disorder: report of the fifth family. 扩大gdi1相关神经发育障碍的表型：第五家族的报告。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-09-29 DOI: 10.1097/MCD.0000000000000582
Bryson M Lewis, Shruti Sinha, Lois J Starr
{"title":"Expanding the phenotype of GDI1-related neurodevelopmental disorder: report of the fifth family.","authors":"Bryson M Lewis, Shruti Sinha, Lois J Starr","doi":"10.1097/MCD.0000000000000582","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000582","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149076124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Second-trimester prenatal phenotype of complete trisomy 10 with combined encephalocele and myelomeningocele. 完全性10三体合并脑膨出和脊髓脊膜膨出的妊娠中期产前表型。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-09-29 DOI: 10.1097/MCD.0000000000000578
Cem Terece, Osman Aydin, Şans Odabasi Aydin, Nihan Ecmel Turan
{"title":"Second-trimester prenatal phenotype of complete trisomy 10 with combined encephalocele and myelomeningocele.","authors":"Cem Terece, Osman Aydin, Şans Odabasi Aydin, Nihan Ecmel Turan","doi":"10.1097/MCD.0000000000000578","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000578","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149076523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Marbach-Rustad progeroid syndrome caused by a hotspot LEMD2 variant: expanding the phenotypic spectrum with skeletal, cutaneous, and renal findings. 热点LEMD2变异引起的Marbach-Rustad类早衰综合征：扩展了骨骼、皮肤和肾脏的表型谱
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-09-23 DOI: 10.1097/MCD.0000000000000580
Hayriye Nermin Keçeci, Ayça Burcu Kahraman, Nurdan Çiftçi, İsmihan Merve Tekin
{"title":"Marbach-Rustad progeroid syndrome caused by a hotspot LEMD2 variant: expanding the phenotypic spectrum with skeletal, cutaneous, and renal findings.","authors":"Hayriye Nermin Keçeci, Ayça Burcu Kahraman, Nurdan Çiftçi, İsmihan Merve Tekin","doi":"10.1097/MCD.0000000000000580","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000580","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149076464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant. 一种新型纯合隐性TAPT1剪接供体变异导致的骨骼发育不良的非免疫性水肿胎儿。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-09-14 DOI: 10.1097/MCD.0000000000000577
Naren Satya Srinivas M, Shivani Mishra, Himani Pandey, Aayushi Gupta, Varunvenkat M Srinivasan, Devi Lal
{"title":"Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant.","authors":"Naren Satya Srinivas M, Shivani Mishra, Himani Pandey, Aayushi Gupta, Varunvenkat M Srinivasan, Devi Lal","doi":"10.1097/MCD.0000000000000577","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000577","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148978688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum. DYM引起Dyggve-Melchior-Clausen综合征的一种新的纯合移码变异：突变谱的扩展。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-08-27 DOI: 10.1097/MCD.0000000000000579
José Luis Aparicio-Sánchez, Manuel Antonio Rodríguez-Lanza, Heidy Sáenz-Acuña, Esther Orts-Martínez, Mónica Blanca Garzón-Gómez
{"title":"A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum.","authors":"José Luis Aparicio-Sánchez, Manuel Antonio Rodríguez-Lanza, Heidy Sáenz-Acuña, Esther Orts-Martínez, Mónica Blanca Garzón-Gómez","doi":"10.1097/MCD.0000000000000579","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000579","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148978702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Omphalocele-exstrophy-imperforate anus-spinal defects complex associated with a very rare limb anomaly mimicking polymelia. 脐膨出-肥大-闭锁肛-脊柱缺损复合体与一种非常罕见的肢体异常相似的多胎症。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-08-17 DOI: 10.1097/MCD.0000000000000576
Bablu Kumar Gaur, Divyanshi Palvia, Navya Jain, Vikas Anand
{"title":"Omphalocele-exstrophy-imperforate anus-spinal defects complex associated with a very rare limb anomaly mimicking polymelia.","authors":"Bablu Kumar Gaur, Divyanshi Palvia, Navya Jain, Vikas Anand","doi":"10.1097/MCD.0000000000000576","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000576","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148978806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generalized overgrowth in CDC42BPB-related Chilton-Okur-Chung neurodevelopmental syndrome: expanding the phenotypic spectrum. cdc42bpb相关Chilton-Okur-Chung神经发育综合征的广泛性过度生长：扩大表型谱
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-07-20 DOI: 10.1097/MCD.0000000000000573
Dibyendu Dutta, Ria Garg
{"title":"Generalized overgrowth in CDC42BPB-related Chilton-Okur-Chung neurodevelopmental syndrome: expanding the phenotypic spectrum.","authors":"Dibyendu Dutta, Ria Garg","doi":"10.1097/MCD.0000000000000573","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000573","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148686604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Monochorionic dizygotic twins with discordant genetic findings and congenital malformations. 单绒毛膜异卵双胞胎有不一致的遗传发现和先天性畸形。
IF 0.6 4区 医学
Clinical Dysmorphology Pub Date : 2026-07-20 DOI: 10.1097/MCD.0000000000000575
Caiqun Luo, Xiaoxia Wu, Yang Liu, Qing Feng, Liyuan Chen, Hui Wang
{"title":"Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.","authors":"Caiqun Luo, Xiaoxia Wu, Yang Liu, Qing Feng, Liyuan Chen, Hui Wang","doi":"10.1097/MCD.0000000000000575","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000575","url":null,"abstract":"<p><strong>Objective: </strong>To describe prenatal evaluation and postnatal outcome of monochorionic diamniotic twins with discordant anomalies and genetic findings after intracytoplasmic sperm injection and double-embryo transfer.</p><p><strong>Methods: </strong>A 36-year-old gravida 3 para 0 woman conceived after transfer of two blastocysts. Ultrasound identified monochorionic diamniotic twins and a liver-containing omphalocele in fetus B. Both sacs underwent separate amniocentesis. Testing included karyotyping, chromosome microarray, Beckwith-Wiedemann syndrome analysis, trio whole-exome sequencing, short tandem repeat analysis, postnatal peripheral blood fluorescence in situ hybridization, and placental histopathology.</p><p><strong>Results: </strong>Fetus A had mosaic 45,X[9]/46,XY[91]; fetus B had a 46,XY karyotype. Other prenatal genetic tests were unremarkable. Discordance at 11 of 21 short tandem repeat loci supported dizygosity. Following prelabor rupture of membranes at 34 + 5 weeks, two male infants were delivered by cesarean section. Twin A had hypospadias and bilateral cryptorchidism; twin B had giant omphalocele requiring surgical repair. Postnatal fluorescence in situ hybridization detected no sex-chromosome mosaicism. Placental histopathology confirmed monochorionicity.</p><p><strong>Conclusion: </strong>Monochorionicity does not exclude dizygosity after assisted reproduction. Separate sampling of both sacs may inform discordant cases, and prenatal-postnatal discrepancies in 45,X/46,XY mosaicism warrant cautious longitudinal interpretation.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148686609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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