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Clinical Dysmorphology最新文献

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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 : 2025-07-01 Epub 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":"10.1097/MCD.0000000000000525","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"107-110"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","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 : 2025-07-01 Epub Date: 2025-05-28 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":"10.1097/MCD.0000000000000523","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"75-78"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","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
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 : 2025-07-01 Epub Date: 2025-05-28 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":"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":"63-67"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","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
Case of de-novo variant in CDH2 with novel findings: a case report and review of literature. 一例新发现的CDH2从头变异体：病例报告和文献回顾。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-04-17 DOI: 10.1097/MCD.0000000000000528
Afiqah Binte Abdul Rahman, Jeannette Goh, Shermaine Chan, Sylvia Kam, Jonathan Tze Liang Choo, Yee Jim Loh, Audrey Wei Lin Chia, Angeline Hwei Meeng Lai, Weng Khong Lim, Saumya Shekhar Jamuar, Jiin Ying Lim
{"title":"Case of de-novo variant in CDH2 with novel findings: a case report and review of literature.","authors":"Afiqah Binte Abdul Rahman, Jeannette Goh, Shermaine Chan, Sylvia Kam, Jonathan Tze Liang Choo, Yee Jim Loh, Audrey Wei Lin Chia, Angeline Hwei Meeng Lai, Weng Khong Lim, Saumya Shekhar Jamuar, Jiin Ying Lim","doi":"10.1097/MCD.0000000000000528","DOIUrl":"10.1097/MCD.0000000000000528","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"93-98"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058954","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 : 2025-07-01 Epub Date: 2025-05-28 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":"10.1097/MCD.0000000000000519","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"88-92"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","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
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 : 2025-07-01 Epub 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":"10.1097/MCD.0000000000000522","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"68-70"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","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
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
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