Clinical Dysmorphology最新文献_第10页

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. 3MC综合征:先前报道和较轻患者的分子发现扩大了自然史和表型谱。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000443

Chloe Jade Ashton, Rahat Perveen, Glenda Beaman, Giangiorgio Crisponi, Ariadna González-Del Angel, Gilda Garza-Mayén, Miguel Angel Alcántara-Ortigoza, James O'Sullivan, Jill Clayton-Smith

{"title":"3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.","authors":"Chloe Jade Ashton, Rahat Perveen, Glenda Beaman, Giangiorgio Crisponi, Ariadna González-Del Angel, Gilda Garza-Mayén, Miguel Angel Alcántara-Ortigoza, James O'Sullivan, Jill Clayton-Smith","doi":"10.1097/MCD.0000000000000443","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000443","url":null,"abstract":"<p><p>The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit genitourinary and skeletal anomalies. A clinical clue to 3MC syndrome is the presence of a characteristic caudal appendage. Genetic variants in MASP1, COLEC11 and COLEC10 genes have been identified as the causation of this syndrome, yet relatively few patients have been described so far. We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the clinical and molecular findings in five patients. This includes follow-up of two brothers whose clinical phenotypes were first reported by Crisponi et al in 1999. Our study contributes to the evolving clinical and molecular spectrum of 3MC syndrome.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"7-13"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10229510","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 guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability. 新型鸟苷二磷酸-甘露糖焦磷酸化酶:贲门失弛缓症、肺活肿和智力残疾患者的一种变异。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000433

Gunes Sager, Ayberk Türkyilmaz, Yasemin Dilek Hanedar, Hediye Pinar Günbey, Yasemin Akin

引用次数: 0

Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link? 单侧小脑症与重新缺失20q13.33有关，是否有因果关系?

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000440

Shauna Quinn, Karl Kavanagh, Linda McArdle, David Betts, Sally-Ann Lynch

引用次数: 1

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

引用次数: 0

A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant. 由一种新的CDK10剪接变体的纯合性引起的Al Kaissi综合征的兄弟姐妹对。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000439

Ajay Beriwal, Lakshita Chauhan, Amit Kumar, Aradhana Dwivedi

引用次数: 0

PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature. PLS3全基因缺失作为x连锁骨质疏松症的原因:临床报告并回顾已发表的PLS3文献

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000442

Louise J Apperley, Shadi Albaba, Poonam Dharmaraj, Meena Balasubramanian

引用次数: 2

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

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":"31 4","pages":"196-200"},"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

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

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

引用次数: 0