Clinical Dysmorphology最新文献_第7页

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

引用次数: 0

Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family. 一种新的UBA2变异引起印度一个家庭先天性皮肤发育不全伴外指综合征（ACCES）。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1097/MCD.0000000000000520

Aditi Nilesh Shirodkar, K A Akhil, Vivekananda Bhat, Hitesh Shah, Anju Shukla, Radhakrishnan Periyasamy

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

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

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

引用次数: 0

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature. 与Pitt-Hopkins综合征相关的TCF4去新生同义变异的功能化：一个病例报告和文献回顾。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2025-02-26 DOI: 10.1097/MCD.0000000000000518

Chaerish Eint Myet Chae Htoo, Janice Wan Zhen Ng, Donald Yuhui Sim, Jeannette Goh, Jiin Ying Lim, Jasmine Chew Yin Goh, Sylvia Kam, Jing Xian Teo, Weng Khong Lim, Xavier Roca, Saumya Shekhar Jamuar

引用次数: 0

Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence. 双等位基因变异的agn与复发性妊娠丢失在一个家庭与胎儿运动障碍变形序列。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2025-01-10 DOI: 10.1097/MCD.0000000000000517

Mangalore S Shravya, Ankur Chaurasia, Katta M Girisha, Shalini S Nayak

{"title":"Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence.","authors":"Mangalore S Shravya, Ankur Chaurasia, Katta M Girisha, Shalini S Nayak","doi":"10.1097/MCD.0000000000000517","DOIUrl":"10.1097/MCD.0000000000000517","url":null,"abstract":"Introduction: Agrin, encoded by AGRN , plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.Methods: We identified a nonconsanguineous couple with recurrent pregnancy loss. Detailed phenotyping of fetuses was performed via perinatal autopsy. Genetic evaluation was performed along with split-read analysis to identify variants.Results: Perinatal phenotyping revealed FADS in the family, and genomic testing identified novel null variants in AGRN . First, whole-exome sequencing revealed the maternally inherited heterozygous variant c.952+1_952+3del in AGRN in fetuses. Split-read analysis of the exome led to the identification of the paternally inherited second variant, a heterozygous deletion of 41.33 kb, encompassing exons 1 and 2 of AGRN.Conclusion: This study highlights the importance of incorporating split-read analysis in clinical practice and emphasizes the association of null variants in AGRN with the FADS. To the best of our knowledge, this is the second report explaining FADS and null variants in AGRN .","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"25-31"},"PeriodicalIF":0.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7617632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980567","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

A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay. 一个患有癫痫和神经发育迟缓的女孩的SMC1A基因的新生功能丧失变异。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2024-12-09 DOI: 10.1097/MCD.0000000000000513

Leyla Özer, Ayşegül Alpcan, Süleyman Aktuna, Serkan Tursun, Mustafa Gürkan, Nesrin Şenbil

引用次数: 0

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature. 刚果患者伴镰状细胞性贫血的Greig头多并指连续基因综合征及文献回顾。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2024-12-10 DOI: 10.1097/MCD.0000000000000510

Prince Makay, Corinne Fasquelle, Gerrye Mubungu, Esther Ekolo, Aimée Mupuala, Patrick Fuanani, Ines Sonet, Benoît Charloteaux, Leonor Palmeira, Jean-Stéphane Gatot, Prosper Lukusa Tshilobo, Vincent Bours, Koenraad Devriendt, Aimé Lumaka

引用次数: 0

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva. 进行性骨化性纤维发育不良的埃及个体ACVR1单等位基因变异

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2025-02-26 DOI: 10.1097/MCD.0000000000000515

Rasha M Elhossini, Hala T El-Bassyouni, Engy A Ashaat, Adel M Ashour, Khaled Hamed, Doaa R Soliman, Ibrahim Hegazy, Sawsan Abdel-Hadi, Hasnaa M Elbendary, Mennat Mehrez, Nehal F Hassib, Mohamed A Al Kersh, Amal I Othman, Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mona S Aglan

{"title":"Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.","authors":"Rasha M Elhossini, Hala T El-Bassyouni, Engy A Ashaat, Adel M Ashour, Khaled Hamed, Doaa R Soliman, Ibrahim Hegazy, Sawsan Abdel-Hadi, Hasnaa M Elbendary, Mennat Mehrez, Nehal F Hassib, Mohamed A Al Kersh, Amal I Othman, Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mona S Aglan","doi":"10.1097/MCD.0000000000000515","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000515","url":null,"abstract":"Objectives: Fibrodysplasia ossificans progressiva (FOP) is a rare ectopic ossification disorder of connective tissue deposited in the muscles, fascia, tendons, and ligaments. The disease is an autosomal dominant pattern caused by pathogenic variants of ACVR1. Herein, we describe the largest number of affected individuals from the Middle East North Africa region who presented with FOP.Methods: DNA extraction and molecular studies using Sanger sequencing was done for the nine affected individuals developing bony swellings of variable severity at different ages.Results: Sanger sequencing identified the common ACVR1 variant (c.617G>A, p.Arg206His) in 7/9, whereas c.983G>A (p.Gly328Glu) in 2/9 affected individuals. Interestingly, the affected individuals harboring the p.Gly328Glu displayed atypical presentations involving micropenis, partial agenesis of the corpus callosum and dysmorphic brainstem, and reduction defects of fingers/toes. Moreover, they had a severe phenotype compared to affected individuals carrying the p.Arg206His variant.Conclusions: Our study highlights the progressive nature of the disease and the importance of early diagnosis to avoid lethal complications such as locked jaw and airway obstructions that affect swallowing and breathing. An early accurate diagnosis gives an opportunity for the affected individuals in the future to be candidates for the agonist Palovarotene drug that prevents the complications arising from ectopic ossification.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"34 2","pages":"15-24"},"PeriodicalIF":0.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977401","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