Clinical Dysmorphology最新文献

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 : 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":"https://doi.org/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":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-10-22","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

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":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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 0.4 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":null,"pages":null},"PeriodicalIF":0.4,"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

Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey. 57 名普拉德-威利综合征患者的基因型-表型特征：土耳其单中心经验。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-06-18 DOI: 10.1097/MCD.0000000000000506

Deniz Torun, Onur Akin

{"title":"Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.","authors":"Deniz Torun, Onur Akin","doi":"10.1097/MCD.0000000000000506","DOIUrl":"10.1097/MCD.0000000000000506","url":null,"abstract":"Objectives: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome 15q11-q13. A variety of findings have been reported on the phenotypic differences between the genetic subtypes of PWS. This article compares the clinical findings of 57 PWS patients by genetic subtype and explores possible associations in this context.Methods: Methylation‑specific multiplex ligation-dependent probe amplification and single nucleotide polymorphism microarrays were used to diagnose deletion and uniparental disomy (UPD). For phenotype-genotype correlation, clinical data were collected and genetic subgroups were compared statistically, and P < 0.05 was considered to indicate statistical significance.Results: These 57 patients consisted of 15 type I deletions, 20 type II deletions, six atypic deletions, 11 heterodisomy UPD, four isodisomy UPD, and one translocation-type PWS. All patients had hypotonia, poor neonatal sucking, and feeding difficulties during infancy. Other PWS-related clinical findings, such as speech articulation problems (85.9%), sleep apnea (77.2%), normal birth length (71.9%), small hands/feet (71.9%), childhood polyphagia (57.9%), clinodactyly (56.1%), thick viscous saliva (54.4%), and behavioral problems (50.9%) were observed at varying rates with no statistical difference between genetic subtypes in general.Conclusion: This study highlights the phenotype-genotype associations on PWS from a cohort of Turkish pediatric patients as a single-center experience.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460587","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

Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype. CNOT3 相关神经发育障碍中的主动脉扩张：扩展 "表型。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI: 10.1097/MCD.0000000000000495

Sandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, Jonathan Choo, Cristelle Chow, Simon Ling, Yong Hong Ng, Tan Yi Hua, Jing Xian Teo, Khi Pin Chua, Minning Chin, Weng Khong Lim, Saumya Shekhar Jamuar, Angeline Hwei Meeng Lai, Jeannette Lay Kuan Goh

{"title":"Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.","authors":"Sandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, Jonathan Choo, Cristelle Chow, Simon Ling, Yong Hong Ng, Tan Yi Hua, Jing Xian Teo, Khi Pin Chua, Minning Chin, Weng Khong Lim, Saumya Shekhar Jamuar, Angeline Hwei Meeng Lai, Jeannette Lay Kuan Goh","doi":"10.1097/MCD.0000000000000495","DOIUrl":"10.1097/MCD.0000000000000495","url":null,"abstract":"Introduction: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.Methods: In this study, we report a case of a patient with CNOT3 -related NDD who presented with progressive aortic dilatation, a feature not reported previously.Results: Our patient presented with intellectual disorder, dysmorphic facial features, and cardiac anomalies, notably progressive aortic dilatation - a novel finding in CNOT3 -related NDD. Genetic testing identified a de novo 6.3 kbp intragenic deletion in CNOT3 , providing a possible genetic basis for her condition.Conclusion: This study presents the first case of CNOT3 -related NDD in Southeast Asia, expanding the phenotype to include progressive aortic dilatation and suggesting merit in cardiac surveillance of patients with CNOT3 -related NDD. It also emphasizes the importance of genetic testing in diagnosing complex NDD cases as well as reanalysis of 'negative' cases using advanced sequencing technologies to uncover potential hidden genetic etiologies in undiagnosed NDDs.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977118","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

Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review. 梅尔-戈林综合征 7 型：原始侏儒症的罕见病因：两个新病例和文献综述。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-06-17 DOI: 10.1097/MCD.0000000000000504

Duygu Çetinkaya, Ayşe Burcu Doğan Ari, Esra Kiliç

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 : 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 : 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