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Clinical Dysmorphology最新文献

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Dual genetic diagnosis of Mitchell-Riley syndrome and Temple syndrome in a neonate. 新生儿米切尔-莱利综合征和坦普尔综合征的双重遗传诊断。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1097/MCD.0000000000000527
Beatriz Sá, Inês Girbal, Ana Rita Espírito-Santo, Joana Gil, Catarina Macedo, Juliette Dupont, Sandra Valente
{"title":"Dual genetic diagnosis of Mitchell-Riley syndrome and Temple syndrome in a neonate.","authors":"Beatriz Sá, Inês Girbal, Ana Rita Espírito-Santo, Joana Gil, Catarina Macedo, Juliette Dupont, Sandra Valente","doi":"10.1097/MCD.0000000000000527","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000527","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"34 3","pages":"99-101"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188437","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
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism. 21岁女性加布里埃尔-德弗里斯综合征合并自身免疫性甲状腺功能减退症病例报告。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-02-10 DOI: 10.1097/MCD.0000000000000516
Pratima Pal, Sandeep Devireddy, Shreya Bhat, Joel Kiran George, Saloni Kakkar, Aneek Das Bhowmik, Karthik Bharadwaj Tallapaka
{"title":"Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism.","authors":"Pratima Pal, Sandeep Devireddy, Shreya Bhat, Joel Kiran George, Saloni Kakkar, Aneek Das Bhowmik, Karthik Bharadwaj Tallapaka","doi":"10.1097/MCD.0000000000000516","DOIUrl":"10.1097/MCD.0000000000000516","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"79-82"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411423","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 clinical spectrum of NHP2 -related dyskeratosis congenita: a case with novel phenotypic features. 扩大与nhp2相关的先天性角化不良症的临床谱：一个具有新表型特征的病例。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-03-13 DOI: 10.1097/MCD.0000000000000524
Karthick Navin Mohandass, Saam Sedehizadeh, Gauri Saini, Jennifer Byrne, Gabriela Jones
{"title":"Expanding the clinical spectrum of NHP2 -related dyskeratosis congenita: a case with novel phenotypic features.","authors":"Karthick Navin Mohandass, Saam Sedehizadeh, Gauri Saini, Jennifer Byrne, Gabriela Jones","doi":"10.1097/MCD.0000000000000524","DOIUrl":"10.1097/MCD.0000000000000524","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"83-87"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617718","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
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review. YARS1 p.（Arg367Trp）变异的表型谱探索-欧洲首个家族及文献综述。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-02-25 DOI: 10.1097/MCD.0000000000000521
Diogo Fernandes da Rocha, Roberto Mendes Franco, Vera M F Santos, Ana Grangeia, João Parente Freixo, Miguel Leão
{"title":"Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review.","authors":"Diogo Fernandes da Rocha, Roberto Mendes Franco, Vera M F Santos, Ana Grangeia, João Parente Freixo, Miguel Leão","doi":"10.1097/MCD.0000000000000521","DOIUrl":"10.1097/MCD.0000000000000521","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"71-74"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617720","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
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family. 一种新的UBA2变异引起印度一个家庭先天性皮肤发育不全伴外指综合征（ACCES）。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1097/MCD.0000000000000520
Aditi Nilesh Shirodkar, K A Akhil, Vivekananda Bhat, Hitesh Shah, Anju Shukla, Radhakrishnan Periyasamy
{"title":"Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family.","authors":"Aditi Nilesh Shirodkar, K A Akhil, Vivekananda Bhat, Hitesh Shah, Anju Shukla, Radhakrishnan Periyasamy","doi":"10.1097/MCD.0000000000000520","DOIUrl":"10.1097/MCD.0000000000000520","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"102-106"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7617595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus. 家族性sin3a相关的Witteveen-Kolk综合征在一个中国家族中有突出的外胚层发育不良、类早衰症和早发性糖尿病。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-06-30 DOI: 10.1097/MCD.0000000000000531
Joshua C K Chan, Lisa L P Siu, Stephanie K L Ho, Shirley S W Cheng, Ho-Ming Luk
{"title":"Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus.","authors":"Joshua C K Chan, Lisa L P Siu, Stephanie K L Ho, Shirley S W Cheng, Ho-Ming Luk","doi":"10.1097/MCD.0000000000000531","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000531","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530837","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 case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype. 一个新病例Al Kaissi综合征在一个4岁的男孩：增加脑积水的意义和延长表型。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-06-26 DOI: 10.1097/MCD.0000000000000532
Haaziq Sheikh, Naveed Hussain, Ataf H Sabir
{"title":"A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype.","authors":"Haaziq Sheikh, Naveed Hussain, Ataf H Sabir","doi":"10.1097/MCD.0000000000000532","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000532","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530836","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 new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome. 莫沃特-威尔逊综合征横纹肌肉瘤一例新病例。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-06-18 DOI: 10.1097/MCD.0000000000000530
Jeeva Jacob, Gerardo Quezada, Clara Hildebrandt
{"title":"A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome.","authors":"Jeeva Jacob, Gerardo Quezada, Clara Hildebrandt","doi":"10.1097/MCD.0000000000000530","DOIUrl":"10.1097/MCD.0000000000000530","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334366","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
EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature. 影响新加坡阿拉伯和马来血统个体的ebf3相关神经发育障碍：病例报告和文献回顾
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-04-29 DOI: 10.1097/MCD.0000000000000529
Chitra Gangadaran Ramalingam, Jiin Ying Lim, Jeannette Goh, Sylvia Kam, Hai Yang Law, Nur Afiqah Binte Mohd Mislan, Ivy Ng, Terrence Gerard Sundram Thomas, Weng Khong Lim, Sandra Sylvia Mascarenhas, Saumya Shekhar Jamuar
{"title":"EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature.","authors":"Chitra Gangadaran Ramalingam, Jiin Ying Lim, Jeannette Goh, Sylvia Kam, Hai Yang Law, Nur Afiqah Binte Mohd Mislan, Ivy Ng, Terrence Gerard Sundram Thomas, Weng Khong Lim, Sandra Sylvia Mascarenhas, Saumya Shekhar Jamuar","doi":"10.1097/MCD.0000000000000529","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000529","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027246","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
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature. 与Pitt-Hopkins综合征相关的TCF4去新生同义变异的功能化：一个病例报告和文献回顾。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-01-28 DOI: 10.1097/MCD.0000000000000518
Chaerish Eint Myet Chae Htoo, Janice Wan Zhen Ng, Donald Yuhui Sim, Jeannette Goh, Jiin Ying Lim, Jasmine Chew Yin Goh, Sylvia Kam, Jing Xian Teo, Weng Khong Lim, Xavier Roca, Saumya Shekhar Jamuar
{"title":"Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.","authors":"Chaerish Eint Myet Chae Htoo, Janice Wan Zhen Ng, Donald Yuhui Sim, Jeannette Goh, Jiin Ying Lim, Jasmine Chew Yin Goh, Sylvia Kam, Jing Xian Teo, Weng Khong Lim, Xavier Roca, Saumya Shekhar Jamuar","doi":"10.1097/MCD.0000000000000518","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000518","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411424","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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