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Clinical Dysmorphology最新文献

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Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia. 两个患有碳水化合物磺基转移酶3相关骨骼发育不良症的兄弟姐妹的脐带内变异和神经系统表现。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-01-01 Epub Date: 2022-09-12 DOI: 10.1097/MCD.0000000000000432
Jehú Rivera-Vargas, Andrea Superti-Furga, Luisa Bonafé, Christian Peña-Padilla, Rocío Carolina Cortés-Pastrana, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Jorge Román Corona-Rivera
{"title":"Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.","authors":"Jehú Rivera-Vargas, Andrea Superti-Furga, Luisa Bonafé, Christian Peña-Padilla, Rocío Carolina Cortés-Pastrana, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Jorge Román Corona-Rivera","doi":"10.1097/MCD.0000000000000432","DOIUrl":"10.1097/MCD.0000000000000432","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227481","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 familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant. 一种新的NOG变异引起的NOG相关的神经症谱系障碍的家族性病例。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000427
Giulia Parmeggiani, Francesca Gualandi, Marco Limarzi, Alessandra Ferlini, Davide Brotto, Alessandro Martini, Alberto Sensi
{"title":"A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant.","authors":"Giulia Parmeggiani, Francesca Gualandi, Marco Limarzi, Alessandra Ferlini, Davide Brotto, Alessandro Martini, Alberto Sensi","doi":"10.1097/MCD.0000000000000427","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000427","url":null,"abstract":"AUSL della Romagna, Medical Genetics Unit, Cesena, Azienda OspedalieroUniversitaria di Ferrara, Medical Genetics Unit, Ferrara, AUSL della Romagna ENT Unit, Cesena, Neurosciences Department, Università di Padova, Otorhinolaryngology Unit, Padova, Italy Correspondence to Giulia Parmeggiani, MD, AUSL della Romagna Medical Genetics Unit, 47522 Cesena, Italy Tel: +39 0547 394841; fax: +39 0547 352008; e-mail: giulia.parmeggiani@auslromagna.it","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280239","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
Hypertension and brachydactyly syndrome: a further case report. 高血压和短指综合征:再一例报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000424
Xiang Huang, Xiao-Lan Li, Fu-Yuan Liu, Hao Li, Heng Zhou, Xiao-Mei Li
{"title":"Hypertension and brachydactyly syndrome: a further case report.","authors":"Xiang Huang, Xiao-Lan Li, Fu-Yuan Liu, Hao Li, Heng Zhou, Xiao-Mei Li","doi":"10.1097/MCD.0000000000000424","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000424","url":null,"abstract":"Introduction Hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E (BDE) with autosomal dominant inherited, age-dependent and sodium-insensitive hypertension from an early age. Based on the present research findings, the PDE3A gene is responsible for HTNB, which is located at 12p12.2-p11.2 and is abundantly expressed in platelet, heart and vascular smooth muscle. PDE3A encodes phosphodiesterase 3A which hydrolyzes cyclic GMP (cGMP) and cyclic AMP (cAMP). Laboratory experiments suggested that PDE3A variants in HTNB-affected individuals are gain-of-function variants as they increase protein kinase A (PKA)mediated phosphorylation of phosphodiesterase 3A which leads to hyperactivation of phosphodiesterase 3A (Ercu et al., 2020). In this study, we identified a missense variant (c.1340C>T) in PDE3A of a Chinese family with HTNB and emphasized clinical features and diagnostic evaluation of this rare disease.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227425","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
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. PIGH中的纯合变体p（Arg163Trp）导致糖基磷脂酰肌醇生物合成缺陷，伴有癫痫性脑病和髓鞘形成延迟。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 Epub Date: 2022-04-19 DOI: 10.1097/MCD.0000000000000423
Michelle C do Rosario, Parneet Kaur, Katta Mohan Girisha, Stephanie Bielas, Anju Shukla
{"title":"Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.","authors":"Michelle C do Rosario, Parneet Kaur, Katta Mohan Girisha, Stephanie Bielas, Anju Shukla","doi":"10.1097/MCD.0000000000000423","DOIUrl":"10.1097/MCD.0000000000000423","url":null,"abstract":"Introduction PIGH encoded as phosphatidylinositol N-acetylglucosaminyltransferase subunit H helps catalyze the first step of glycosylphosphatidylinositol (GPI) biosynthesis by transferring N-acetylglucosamine from UDP-N-acetylglucosamine to an inositol phospholipid acceptor. Pathogenic variants in PIGH have been reported to cause GPI biosynthesis defect 17 (MIM# 618010). To date, a total of seven individuals from five unrelated families with GPI biosynthesis defect 17 (MIM# 618010) have been reported (Pagnamenta and Murakami, 2018; Nguyen et al., 2018; Tremblay-Laganière et al., 2021). In this report, we describe an additional proband with early-onset recurrent seizures, postictal regression of attained milestones, hypotonia and delayed myelination on neuroimaging of brain at 1 year of age, and an underlying biallelic variant in PIGH. Additionally, we review and compare the phenotypic and genotypic findings of all individuals with GPI biosynthesis defect 17.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474726/pdf/nihms-1794280.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280210","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
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay. nalc基因新变异c.1838A>G, p.(Gln613Arg)导致camptodyly和认知延迟。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-10-01 Epub Date: 2022-06-27 DOI: 10.1097/MCD.0000000000000431
Parshw Singh, Neha Agrawal, Rajesh Kumar Maurya, Amita Moirangthem
{"title":"Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay.","authors":"Parshw Singh, Neha Agrawal, Rajesh Kumar Maurya, Amita Moirangthem","doi":"10.1097/MCD.0000000000000431","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000431","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33462526","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
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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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
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