Clinical Dysmorphology最新文献_第3页

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

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

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

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

A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele. 一名患有新发PPP2R5D W207R致病变异的女孩出生时也患有枕部脑泡。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2025-02-26 DOI: 10.1097/MCD.0000000000000514

Eijun Seki, Takeshi Uehara, Mamiko Yamada, Toshiki Takenouchi, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa

引用次数: 0

Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case. 1型椎体骨骺发育不良伴关节松弛的寰枢轴半脱位致小脑梗死病例。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2024-12-10 DOI: 10.1097/MCD.0000000000000512

Nagehan Bilgeç, Burcu Çalişkan, Saliha Yavuz Eravci, Ahmet Sami Güven, Hüseyin Çaksen

{"title":"Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.","authors":"Nagehan Bilgeç, Burcu Çalişkan, Saliha Yavuz Eravci, Ahmet Sami Güven, Hüseyin Çaksen","doi":"10.1097/MCD.0000000000000512","DOIUrl":"10.1097/MCD.0000000000000512","url":null,"abstract":"Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other. SEMD-JL1 results in impaired growth and short stature, along with increased joint flexibility leading to limb joint dislocations and progressive spinal deformity.Methods and result: Whole exome sequencing was performed on the patient's genomic DNA. A novel variant in the B3GALT6 gene was detected as homozygous. During the patient's follow-up, signs of cerebellar infarction was observed due to atlantoaxial subluxation. Posterior circulation ischemic strokes have not been described with SEMD-JL1 and it was the second case in the skeletal dysplasia group to develop posterior circulation ischemic stroke due to atlantoaxial luxation.Conclusion: Linkeropathies present with varying clinical manifestations and necessitate comprehensive genetic testing for accurate diagnosis of this complex patient group. Skeletal dysplasias, such as spondyloepimetaphyseal dysplasia, may be accompanied by atlantoaxial instability that can lead to serious spinal symptoms and even sudden death.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"32-36"},"PeriodicalIF":0.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980548","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 renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations. 常染色体隐性肾小管发育不良：产前超声扫描和分子研究。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-04-01 Epub Date: 2024-12-06 DOI: 10.1097/MCD.0000000000000511

Yang Liu, Caiqun Luo, Xiaoxia Wu, Liyuan Chen, Xiushu Cao, Hui Wang

{"title":"Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations.","authors":"Yang Liu, Caiqun Luo, Xiaoxia Wu, Liyuan Chen, Xiushu Cao, Hui Wang","doi":"10.1097/MCD.0000000000000511","DOIUrl":"10.1097/MCD.0000000000000511","url":null,"abstract":"Objective: This study aimed to elucidate the fetal ultrasound characteristics, pathology, and molecular genetic etiology of autosomal recessive tubular dysplasia.Methods: This retrospective study examined four fetuses with autosomal recessive tubular dysplasia (ARRTD) from two pregnancies, utilizing ultrasound evaluations and fetal renal pathology. Whole-exome sequencing-copy number variation analysis was employed to identify gene mutations.Results: We present for the first time renal vascular resistance in fetuses with ARRTD, characterized by increased renal blood flow resistance and reversed diastolic blood flow, indicating fetal renal insufficiency. This is the first report of a nonsense mutation (C.571C>T) found in the angiotensinogen gene.Conclusion: ARRTD disease should be strongly suspected when ultrasound examinations reveal increased renal blood flow resistance, oligohydramnios, and inadequate bladder filling, regardless of the presence of renal abnormalities.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"37-43"},"PeriodicalIF":0.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11867794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787539","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

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome. 两个患有与 ROGDI 相关的 Kohlschütter-Tönz 综合征的兄弟姐妹出现肾脏钙化、远端肾小管酸中毒和骨骼异常。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-01 Epub Date: 2024-10-22 DOI: 10.1097/MCD.0000000000000509

Gayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni

{"title":"Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.","authors":"Gayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni","doi":"10.1097/MCD.0000000000000509","DOIUrl":"10.1097/MCD.0000000000000509","url":null,"abstract":"Introduction: Kohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation.Case report: Here we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS.Results: Trio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant.Conclusion: Further research needs to be done to identify the exact mechanism by which ROGDI -encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"1-5"},"PeriodicalIF":0.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512352","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

Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report. 6q23.3缺失畸形儿童的免疫失调：单个病例报告。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-01 Epub Date: 2024-09-27 DOI: 10.1097/MCD.0000000000000507

Pooja Motwani, Haseena Sait

引用次数: 0