Clinical Dysmorphology最新文献_第8页

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

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

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

Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome. 对一例具有罗伯茨噬骨综合征特征性临床和影像学发现的病例进行有针对性的基因检测。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-01 Epub Date: 2024-09-20 DOI: 10.1097/MCD.0000000000000508

Ayşe Burcu Doğan Ari, Özge Ağlamiş Şenel, Betül Siyah Bilgin, Esra Kiliç

引用次数: 0

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 13名患有驼背-关节病-Coxa vara-心包炎综合征的印第安人。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-03-22 DOI: 10.1097/MCD.0000000000000500

Swati Singh, Vaishnavi Ashok Badiger, Suma Balan, Sheela Nampoothiri, Anand Prahalad Rao, Hitesh Shah, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Katta M Girisha

{"title":"Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.","authors":"Swati Singh, Vaishnavi Ashok Badiger, Suma Balan, Sheela Nampoothiri, Anand Prahalad Rao, Hitesh Shah, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Katta M Girisha","doi":"10.1097/MCD.0000000000000500","DOIUrl":"10.1097/MCD.0000000000000500","url":null,"abstract":"Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome (MIM# 208250) is a rare monogenic disorder, characterized by early onset of camptodactyly, progressive coxa vara, bilateral arthropathy and constrictive pericarditis. The syndrome is caused by biallelic loss-of-function variants in PRG4 . Deficiency of PRG4 results in progressive worsening of joint deformity with age. Thirteen individuals with CACP syndrome from eight consanguineous Indian families were evaluated. We used exome sequencing to elucidate disease-causing variants in all the probands. These variants were further validated and segregated by Sanger sequencing, confirming the diagnosis of CACP syndrome in them. Seven females and six males aged 2-23 years were studied. Camptodactyly (13/13), coxa vara (11/13), short femoral neck (11/13) and arthritis in large joints (12/13) [wrists (11/13), ankle (11/13), elbow (10/13) and knee (10/13)] were observed commonly. Five novel disease-causing variants (c.3636G>T, c.1935del, c.1134dup, c.1699del and c.962T>A) and two previously reported variants (c.1910_1911del and c.2816_2817del) were identified in homozygous state in PRG4 . We describe the phenotype and mutations in one of the large cohorts of patients with CACP syndrome, from India.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"152-159"},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7617550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297168","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 case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype. 一例与 U2AF2 相关的发育障碍：长期随访和表型扩展。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-06-04 DOI: 10.1097/MCD.0000000000000505

Muhammed Fatih Mulayim, Mustafa Hakan Demirbas, Ferda E Percin, Ebru Arhan, Gulsum Kayhan

引用次数: 0

Interstitial 3p25.3 deletion syndrome: 13 years'-long follow-up of an affected individual. 间质 3p25.3 缺失综合征：对一名患者长达 13 年的随访。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-05-21 DOI: 10.1097/MCD.0000000000000503

Sinem Kocagil, Ezgi Susam, Sevgi Yimenicioğlu, Sabri Aynaci, Ebru Erzurumluoğlu Gökalp, Sevilhan Artan

引用次数: 0

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature. 报告在三个无血缘关系的硫胺素代谢障碍综合征 5（thiamine metabolism dysfunction syndrome 5）家族中发现一个新的复发性同源变体 c.620A>T，并回顾相关文献。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-07-16 DOI: 10.1097/MCD.0000000000000490

Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, Michelle C do Rosario, Purvi Majethia, Karthik Vijay Nair, Suvasini Sharma, Praveen Kumar Barala, Ratna Dua Puri, Swasti Pal, Shahyan Siddiqui, Anju Shukla

{"title":"Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.","authors":"Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, Michelle C do Rosario, Purvi Majethia, Karthik Vijay Nair, Suvasini Sharma, Praveen Kumar Barala, Ratna Dua Puri, Swasti Pal, Shahyan Siddiqui, Anju Shukla","doi":"10.1097/MCD.0000000000000490","DOIUrl":"10.1097/MCD.0000000000000490","url":null,"abstract":"Introduction: Biallelic variants in thiamine pyrophosphokinase 1 ( TPK1 ) are known to cause thiamine metabolism dysfunction syndrome 5 (THMD5). This disorder is characterized by neuroregression, ataxia and dystonia with basal ganglia abnormalities on neuroimaging. To date, 27 families have been reported with THMD5 due to variants in TPK1 .Methods: We ascertained three individuals from three unrelated families. Singleton exome sequencing was performed on all three individuals, followed by in silico mutagenesis of the mutant TPK protein. Additionally, we reviewed the genotypic and phenotypic information of 27 previously reported individuals with THMD5.Results: Singleton exome sequencing revealed a novel homozygous variant c.620A>T p.(Asp207Val) in TPK1 (NM_022445.4) in all three individuals. In silico mutagenesis of the mutant protein revealed a decrease in protein stability and altered interactions with its neighboring residues compared to the wild-type protein. Thus, based on strikingly similar clinical and radiological findings compared to the previously reported individuals and with the support of in silico mutagenesis findings, the above-mentioned variant appears to be the probable cause for the condition observed in the affected individuals in this study.Conclusion: We report a novel homozygous variant in TPK1 , which appears to be recurrent among the Indian population.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"160-166"},"PeriodicalIF":0.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11383744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977119","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