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Clinical Dysmorphology最新文献

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Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review. 约旦van den Ende-Gupta综合征家族中SCARF2新变异的鉴定及文献综述
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000415
Osama Odeh, Tawfiq Barqawi, Hussein Rashid, Safa Almashhdi, Mohammad Shboul
{"title":"Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.","authors":"Osama Odeh, Tawfiq Barqawi, Hussein Rashid, Safa Almashhdi, Mohammad Shboul","doi":"10.1097/MCD.0000000000000415","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000415","url":null,"abstract":"Introduction Van den Ende-Gupta Syndrome (VDEGS; MIM 600920) is a rare autosomal recessive syndrome caused by homozygous variants in the scavenger receptor class F member 2 (SCARF2) gene (Anastasio et al., 2010; Niederhoffer et al., 2016). SCARF2 gene is mapped to 22q11.2 region, consists of 11 exons and encodes the SCARF2. The function of SCARF2 has not been fully elucidated. It is reported that this protein belongs to the cell surface scavenger receptors family involved in lipid scavenging and other biologic processes, including pathogen clearance, endocytosis, adhesion and antigen presentation. It is further involved in the pathophysiology of several disorders, such as pathogen infections, atherosclerosis, metabolic disorders, neurodegeneration and cancer (Ishii et al., 2002; PrabhuDas et al., 2014; Zani et al., 2015).","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223416","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 variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis. WNT5A的一种新变异导致男性胎儿下肢缩短和阴茎发育不全的Robinow综合征。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000401
Haiyan Zhu, Yuanyuan Chen, Yanyan Niu, Yunshan Zhang, Lei Chen
{"title":"A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis.","authors":"Haiyan Zhu, Yuanyuan Chen, Yanyan Niu, Yunshan Zhang, Lei Chen","doi":"10.1097/MCD.0000000000000401","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000401","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574084","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 molecular characterization of Costello syndrome in unrelated Mexican patients. 无关墨西哥患者Costello综合征的临床和分子特征。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000405
Blanca E Ríos-González, Jessica F Rodríguez-Ortiz, Anna G Castro-Martínez, María T Magaña-Torres, Patricio Barros-Núñez
{"title":"Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.","authors":"Blanca E Ríos-González,&nbsp;Jessica F Rodríguez-Ortiz,&nbsp;Anna G Castro-Martínez,&nbsp;María T Magaña-Torres,&nbsp;Patricio Barros-Núñez","doi":"10.1097/MCD.0000000000000405","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000405","url":null,"abstract":"<p><p>This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280196","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
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. 扩大aldh18a1相关常染色体隐性皮肤松弛症的表型谱，描述新的神经放射学发现。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000404
Charlotte Pickwick, Bert Callewaert, Fleur van Dijk, Juliette Harris, Emma Wakeling, Eleanor Hay, Mildrid Yeo, Anupam Chakrapani, Julia Baptista, Sandra Moore, Michael Yoong, Fiona Chatterjee, Neeti Ghali
{"title":"Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.","authors":"Charlotte Pickwick,&nbsp;Bert Callewaert,&nbsp;Fleur van Dijk,&nbsp;Juliette Harris,&nbsp;Emma Wakeling,&nbsp;Eleanor Hay,&nbsp;Mildrid Yeo,&nbsp;Anupam Chakrapani,&nbsp;Julia Baptista,&nbsp;Sandra Moore,&nbsp;Michael Yoong,&nbsp;Fiona Chatterjee,&nbsp;Neeti Ghali","doi":"10.1097/MCD.0000000000000404","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000404","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10591811","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
Novel antenatal presentation of cystic hygroma in a case of Koolen-de Vries syndrome. 库伦-德-弗里斯综合征一例囊性湿肿的新产前表现。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000410
Elizabeth Oakley-Hannibal, Vipin Tyagi, Shyam Das, Emma Wakeling, Alice Gardham
{"title":"Novel antenatal presentation of cystic hygroma in a case of Koolen-de Vries syndrome.","authors":"Elizabeth Oakley-Hannibal,&nbsp;Vipin Tyagi,&nbsp;Shyam Das,&nbsp;Emma Wakeling,&nbsp;Alice Gardham","doi":"10.1097/MCD.0000000000000410","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000410","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10224992","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
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants. 由双等位亚甲基四氢叶酸还原酶变异引起的同型半胱氨酸尿的不同神经表型。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000407
Amita Moirangthem, Deepti Saxena, Suzena Masih, Arya Shambhavi, Mayank Nilay, Shubha R Phadke
{"title":"Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.","authors":"Amita Moirangthem,&nbsp;Deepti Saxena,&nbsp;Suzena Masih,&nbsp;Arya Shambhavi,&nbsp;Mayank Nilay,&nbsp;Shubha R Phadke","doi":"10.1097/MCD.0000000000000407","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000407","url":null,"abstract":"<p><p>Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be viewed as a continuous spectrum. Fatal infantile encephalopathy was observed in one family, whereas another patient presented at 27 years with acute leukoencephalopathy and recovered within 3 months. Intermediate forms presenting as complicated hereditary spastic paraparesis of variable severity were observed in four subjects. Clinical and molecular information of the 207 cases reported in literature were also retrieved and analyzed. We categorized all subjects into three categories - severe, intermediate and mild forms according to the clinical presentation. In addition, a total of 286 disease-causing variations reported to date were analyzed. These included seven disease-causing variants reported in this study of which one is novel. Some genotype-phenotype correlation could be seen which corroborated with previous observations. However, inter- and intrafamilial variability was also noted. Treatment with betaine, B12 and folic acid was started in four subjects with variable outcomes.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226855","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
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing. 由快速外显子组测序检测到的一种新的MED12变异引起的x连锁Ohdo综合征。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000412
Helen McDermott, Vidya Garikapati, Júlia Baptista, Harsha Gowda, Swati Naik
{"title":"X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing.","authors":"Helen McDermott,&nbsp;Vidya Garikapati,&nbsp;Júlia Baptista,&nbsp;Harsha Gowda,&nbsp;Swati Naik","doi":"10.1097/MCD.0000000000000412","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000412","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574093","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
A further case of Skraban-Deardorff syndrome and review of the literature. Skraban-Deardorff综合征一例及文献复习。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000403
Sze Wing Shirley Cheng, Ho-Ming Luk, Fai Man Ivan Lo
{"title":"A further case of Skraban-Deardorff syndrome and review of the literature.","authors":"Sze Wing Shirley Cheng,&nbsp;Ho-Ming Luk,&nbsp;Fai Man Ivan Lo","doi":"10.1097/MCD.0000000000000403","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000403","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226851","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
A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia. 极低密度脂蛋白受体相关小脑发育不全的两个兄弟姐妹的一个新的基因组变异。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000409
Cigdem Yuce Kahraman, Pelin Ercoskun, Omer Yakar, Abdulgani Tatar
{"title":"A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia.","authors":"Cigdem Yuce Kahraman,&nbsp;Pelin Ercoskun,&nbsp;Omer Yakar,&nbsp;Abdulgani Tatar","doi":"10.1097/MCD.0000000000000409","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000409","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10224984","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
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case? 常染色体隐性EXT2综合征——延长了新发疾病的表型谱，又一个病例?
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-04-01 DOI: 10.1097/MCD.0000000000000406
Ataf H Sabir, Juhi Singhal, Jessica Man, Nicola Cooper, Moira Cheung, Melita Irving
{"title":"Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?","authors":"Ataf H Sabir,&nbsp;Juhi Singhal,&nbsp;Jessica Man,&nbsp;Nicola Cooper,&nbsp;Moira Cheung,&nbsp;Melita Irving","doi":"10.1097/MCD.0000000000000406","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000406","url":null,"abstract":"Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, Institute of Cancer and Genomic Sciences, University of Birmingham, Department of Clinical Genetics, Lavender House, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, Department of Medicine, West Hertfordshire Hospitals NHS Trust, Hertfordshire, Department of Paediatric Endocrinology, Evelina London Children’s Hospital, London, 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","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10591812","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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