发布求助
文献互助 智能选刊 最新文献

Clinical Dysmorphology最新文献

筛选
英文 中文
Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion. 1例因UBE2A缺失导致的x连锁智力残疾型Nascimento新生儿猝死
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-03-21 DOI: 10.1097/MCD.0000000000000526
Inês Furtado Gomes, Marta Martins, Bárbara Marques, Hildeberto Correia, Bruno Sanches
{"title":"Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion.","authors":"Inês Furtado Gomes, Marta Martins, Bárbara Marques, Hildeberto Correia, Bruno Sanches","doi":"10.1097/MCD.0000000000000526","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000526","url":null,"abstract":"<p><strong>Introduction: </strong>X-linked intellectual disability (XLID) type Nascimento is a rare genetic syndrome characterized by intellectual disability, craniofacial dysmorphisms, and congenital anomalies, including cardiac and urinary tract defects. It is caused by variants of the UBE2A gene.</p><p><strong>Methods: </strong>Description of a clinical case based on medical records; genetic testing through chromosomal microarray analysis. Literature review of relevant scientific articles concerning XLID type Nascimento and UBE2A/UBE2A.</p><p><strong>Results: </strong>We describe the clinical and genetic characteristics of a neonate with a challenging presentation and fatal outcome with a 386 kb deletion in the Xq24 region encompassing UBE2A. Despite clinical and anatomopathological investigations, the definitive cause of death was not established. Study of the proband's asymptomatic mother confirmed maternal inheritance of the deletion. A total of 58 other cases have been described worldwide, with only one with a neonatal diagnosis; prevalent clinical characteristics matched the phenotype of our patient.</p><p><strong>Conclusion: </strong>Further research is needed to refine the clinical spectrum and elucidate genotype-phenotype correlations. Early clinical recognition might be possible and would allow for the timely diagnosis and genetic counseling of affected families. The present case is the first report of sudden infant death in a patient with UBE2A deficiency, underscoring the importance of clinician awareness for proactive management.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744355","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 : 2025-03-13 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":"https://doi.org/10.1097/MCD.0000000000000524","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-03-13","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
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures. 熟悉的小TBC1D24和atp6v0c含微缺失与发育迟缓，小头畸形和癫痫发作相关的病例。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-03-12 DOI: 10.1097/MCD.0000000000000525
Catarina Macedo, Raquel Rodrigues, José Paulo Monteiro, Ana Sousa, Ana Berta Sousa, Mariana Soeiro E Sá
{"title":"Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures.","authors":"Catarina Macedo, Raquel Rodrigues, José Paulo Monteiro, Ana Sousa, Ana Berta Sousa, Mariana Soeiro E Sá","doi":"10.1097/MCD.0000000000000525","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000525","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617723","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
TUBB3 R262H in a neonate with ptosis and vocal cord palsy. TUBB3 R262H在新生儿上睑下垂和声带麻痹中的表达。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-02-27 DOI: 10.1097/MCD.0000000000000523
Edward Steel, Stergios Papakostas, Justin Cross, Sajeev Job
{"title":"TUBB3 R262H in a neonate with ptosis and vocal cord palsy.","authors":"Edward Steel, Stergios Papakostas, Justin Cross, Sajeev Job","doi":"10.1097/MCD.0000000000000523","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000523","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617730","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 de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2. PPP2R1A中的一个新生错义变体Ser219Pro导致Houge-Janssens综合征2型的大头畸形。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-02-25 DOI: 10.1097/MCD.0000000000000522
Ana M Zarante-Bahamon, María C Cortés-Rojas, Jorge L Ramon-Gómez
{"title":"A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2.","authors":"Ana M Zarante-Bahamon, María C Cortés-Rojas, Jorge L Ramon-Gómez","doi":"10.1097/MCD.0000000000000522","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000522","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617695","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 : 2025-02-25 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":"https://doi.org/10.1097/MCD.0000000000000521","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-02-25","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 : 2025-02-21 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":"https://doi.org/10.1097/MCD.0000000000000520","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report. 患有新型PCDH12变异的两个兄弟姐妹的临床和神经影像学变异性：一个病例报告。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-02-18 DOI: 10.1097/MCD.0000000000000519
Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Amena Nayyer, Himani Pandey, Devi Lal
{"title":"Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report.","authors":"Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Amena Nayyer, Himani Pandey, Devi Lal","doi":"10.1097/MCD.0000000000000519","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000519","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617699","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 : 2025-02-10 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":"https://doi.org/10.1097/MCD.0000000000000516","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-02-10","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
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
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信