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
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum. 伴有小头畸形、共济失调和癫痫综合征的神经发育障碍:临床谱的扩展。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000426
Kadri Karaer, Derya Karaer, Zafer Yüksel, Sedat Işikay
{"title":"Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.","authors":"Kadri Karaer,&nbsp;Derya Karaer,&nbsp;Zafer Yüksel,&nbsp;Sedat Işikay","doi":"10.1097/MCD.0000000000000426","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000426","url":null,"abstract":"<p><p>Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two families with NEDMAS have been reported. We report the clinical and molecular characteristics of three unrelated Turkish families with four NEDMAS patients. Whole-exome sequencing was used to search for the disease-causing variant. The main manifestations of the probands are severe developmental delay and ID, thin body habitus, and severe hypotonia. Brain imaging revealed bilateral cerebral and cerebellar diffuse atrophy. Sequencing results showed that both patients carried a novel missense variant c.1196C>T (p.Thr399Met) in the seryl-tRNA synthetase gene. Our findings help expand the variant spectrum of NEDMAS and provide additional information for diagnosing cases with atypical features.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"167-173"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574132","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
Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations. 氮渗透酶调节因子样-2 (NPRL2)截断突变导致大田原综合征具有不完全外显性:扩大基因型-表型相关性
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000428
Xing Zhou, Feng-Ying Chen, Xing-Guang Ye, Zhi-Gang Liu
{"title":"Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.","authors":"Xing Zhou,&nbsp;Feng-Ying Chen,&nbsp;Xing-Guang Ye,&nbsp;Zhi-Gang Liu","doi":"10.1097/MCD.0000000000000428","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000428","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"181-184"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280221","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: 1
De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature. 11q14.3q22在轻度智力残疾和身材矮小的男孩中重新出现间质缺失。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000429
Fatma Kurt Colak, Nilnur Eyerci, Naz Guleray Lafci
{"title":"De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature.","authors":"Fatma Kurt Colak,&nbsp;Nilnur Eyerci,&nbsp;Naz Guleray Lafci","doi":"10.1097/MCD.0000000000000429","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000429","url":null,"abstract":"<p><strong>Background: </strong>Interstitial deletions of the 11q region are infrequent. Nonrecurrent chromosomal rearrangements are observed with high variability in size and precise breakpoints of the deleted area. Moreover  heterogeneous clinical findings are observed in those harboring 11q interstitial deletions. Main clinical features associated with these deletions include mild dysmorphic findings  intellectual disability and moderate developmental or speech delay .</p><p><strong>Method: </strong>Conventional high-resolution karyotyping along with microarray studies were performed for the index patient  who was found to be a carrier of a de novo interstitial deletion in the long arm of chromosome 11  which is located between the 11q14 and 11q22 band regions. We also investigated the homologous chromosome with next-generation sequencing technology to search for unmasked recessive variants in genes on the nondeleted contralateral allele.</p><p><strong>Results: </strong>Cytogenetic analysis revealed a de novo interstitial deletion on the long arm of chromosome 11  46 XY del(11) (q14q22). Microarray analysis confirmed the deletion of 11.2 Mb in length  mapping from 11q14.3 to 11q22.2 [arr (GRCh37) 11q14.3q22.1(90549863_101833022)x1 dn]. Whole-exome sequencing did not detect any other genetic variant (single nucleotide variant ) on the nondeleted allele.</p><p><strong>Conclusion: </strong>This study gave us the opportunity for an attempt to define the smallest region of overlap for frequently observed clinical findings by reviewing the literature.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"174-180"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280241","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 challenging diagnosis of the PIK3CA-related overgrowth spectrum. pik3ca相关过度生长谱的一个具有挑战性的诊断。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000425
Ataf Hussain Sabir, Alessandra Cocca, Moira Cheung, Melita Irving
{"title":"A challenging diagnosis of the PIK3CA-related overgrowth spectrum.","authors":"Ataf Hussain Sabir,&nbsp;Alessandra Cocca,&nbsp;Moira Cheung,&nbsp;Melita Irving","doi":"10.1097/MCD.0000000000000425","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000425","url":null,"abstract":"Department of Clinical Genetics, Lavender House, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, Department of Paediatric Endocrinology, Evelina London Children’s Hospital, Guy’s King’s College and Saint Thomas’ Hospitals’ Medical and Dental School of King’s College London, King’s College London, School of Medical Education and Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Correspondence to Ataf Hussain Sabir, MSc, Department of Clinical Genetics, Lavender House, Birmingham Women’s Hospital, Mindelsohn Way, B152TG, Birmingham, UK Tel: +0121 335 8024; e-mail: ataf.sabir2@nhs.net","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"211-216"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280242","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
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1. 两个患有GAPO综合征的兄弟姐妹:ANTXR1的一种新的错义变体。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000430
Onur Yildiz, Elifcan Taşdelen, Taner Karakaya, Harun Taşdelen
{"title":"Two siblings with GAPO syndrome: a novel missense variant in ANTXR1.","authors":"Onur Yildiz,&nbsp;Elifcan Taşdelen,&nbsp;Taner Karakaya,&nbsp;Harun Taşdelen","doi":"10.1097/MCD.0000000000000430","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000430","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"191-195"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9578280","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
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene. 由TBL1XR1基因c.1337A>G突变引起的Pierpont综合征。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000416
Marketa Tesarova, Alice Baxova, Hana Hansikova, Lukas Lambert, Alzbeta Vondrackova, Alena Leiska, Jiri Zeman
{"title":"Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.","authors":"Marketa Tesarova,&nbsp;Alice Baxova,&nbsp;Hana Hansikova,&nbsp;Lukas Lambert,&nbsp;Alzbeta Vondrackova,&nbsp;Alena Leiska,&nbsp;Jiri Zeman","doi":"10.1097/MCD.0000000000000416","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000416","url":null,"abstract":"Department of Paediatrics and Adolescent Medicine, Institute of Biology and Medical Genetics and Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic Correspondence to Jiri Zeman, MD, PhD, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic Tel: +42","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"145-148"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280206","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: 3
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. 单亲二体作为x连锁点状软骨发育不良的机制。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 Epub Date: 2022-03-07 DOI: 10.1097/MCD.0000000000000419
Emily Woods, Michael Yates, Farah Kanani, Meena Balasubramanian
{"title":"Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.","authors":"Emily Woods, Michael Yates, Farah Kanani, Meena Balasubramanian","doi":"10.1097/MCD.0000000000000419","DOIUrl":"10.1097/MCD.0000000000000419","url":null,"abstract":"<p><p>We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This patient was homozygous for ARSL NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental disomy is a type of chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders and X-linked recessive disorders in females, and be a cause of autosomal recessive conditions when only one parent is a carrier. The patient described highlights that uniparental disomy can be a rare cause of X-linked recessive conditions. This mode of inheritance has not been previously described in this condition.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"132-135"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223419","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
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report. 肌肉骨骼异常和一个新的基因组变异的成人患者与儿童综合征:一个病例报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000422
Rafael Martínez, Camilo Peña, Manuela Quiroga-Carrillo, Camila Ordóñez-Reyes, Julián Rincón, Fernando Suárez-Obando, Sergio Nossa, María Fernanda García
{"title":"Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.","authors":"Rafael Martínez,&nbsp;Camilo Peña,&nbsp;Manuela Quiroga-Carrillo,&nbsp;Camila Ordóñez-Reyes,&nbsp;Julián Rincón,&nbsp;Fernando Suárez-Obando,&nbsp;Sergio Nossa,&nbsp;María Fernanda García","doi":"10.1097/MCD.0000000000000422","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000422","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"162-166"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574100","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
"Laurin-Sandrow Syndrome - a review of the literature and classification system". 劳林-桑德罗综合征-文献综述及分类系统。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000420
Cezar Buzea, Nathalie Boulanger
{"title":"\"Laurin-Sandrow Syndrome - a review of the literature and classification system\".","authors":"Cezar Buzea,&nbsp;Nathalie Boulanger","doi":"10.1097/MCD.0000000000000420","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000420","url":null,"abstract":"<p><strong>Introduction: </strong>Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.</p><p><strong>Materials and methods: </strong>The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: \"Laurin-Sandrow syndrome\", \"mirror hands\", \"mirror feet\", \"tetramelic mirror-image polydactyly\", \"fibular dimelia\" and \"ulnar dimelia\". Clinical cases, reviews and original articles were included.</p><p><strong>Results: </strong>As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.</p><p><strong>Conclusion: </strong>Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"109-112"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10216521","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
Acalvaria and imperforate anus: an extremely rare association. 无骨畸形和闭锁肛门:一种极其罕见的联系。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000417
Gabriel Del Castillo-Calderón, Gloria Aurora Delgado-Nacaza, Maria Camila Hernández-Obando, Hector Eraso-Narváez, José Darío Portillo-Miño
{"title":"Acalvaria and imperforate anus: an extremely rare association.","authors":"Gabriel Del Castillo-Calderón,&nbsp;Gloria Aurora Delgado-Nacaza,&nbsp;Maria Camila Hernández-Obando,&nbsp;Hector Eraso-Narváez,&nbsp;José Darío Portillo-Miño","doi":"10.1097/MCD.0000000000000417","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000417","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"149-152"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223415","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
首页 上一页
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