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Clinical Dysmorphology最新文献

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A previous clinical diagnosis of Ullrich-Feichtiger syndrome is molecularly defined as Townes-Brocks syndrome. Ullrich-Feichtiger综合征的先前临床诊断在分子上被定义为Townes-Brocks综合征。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-09-06 DOI: 10.1097/MCD.0000000000000464
Andrea Guala, Enrico Grosso, Piergiorgio Franceschini, Cesare Danesino
{"title":"A previous clinical diagnosis of Ullrich-Feichtiger syndrome is molecularly defined as Townes-Brocks syndrome.","authors":"Andrea Guala, Enrico Grosso, Piergiorgio Franceschini, Cesare Danesino","doi":"10.1097/MCD.0000000000000464","DOIUrl":"10.1097/MCD.0000000000000464","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 4","pages":"189"},"PeriodicalIF":0.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10567229","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
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome. 埃及Treacher-Collins综合征患者的临床和分子研究。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-07-04 DOI: 10.1097/MCD.0000000000000470
Nagham M Elbagoury, Amira Nabil, Asmaa F Abdel-Aleem, Ahmed Habib, Engy A Ashaat, Wessam E Sharaf-Eldin, Mona L Esswai
{"title":"Clinical and molecular study of Egyptian patients with Treacher Collins syndrome.","authors":"Nagham M Elbagoury, Amira Nabil, Asmaa F Abdel-Aleem, Ahmed Habib, Engy A Ashaat, Wessam E Sharaf-Eldin, Mona L Esswai","doi":"10.1097/MCD.0000000000000470","DOIUrl":"10.1097/MCD.0000000000000470","url":null,"abstract":"<p><p>Treacher Collins syndrome (TCS) is a rare disorder of craniofacial development following different patterns of inheritance. To date, mutations in four genes ( TCOF1, POLR1D, POLR1C , and POLR1B ) have been found to cause the condition. The molecular defect remains unidentified in a significant proportion of patients. In the current study, whole exome sequencing including analysis of copy number variants was applied for genetic testing of eight Egyptian patients with typical TCS phenotype, representing the first molecular analysis of TCS patients in Egypt as well as in Arab countries. Five heterozygous frameshift mutations were reported, including four variants in the TCOF1 gene (c.3676_3694delinsCTCTGG, c.3984_3985delGA, c.4366_4369delGAAA, and c.3388delC) and one variant in the POLR1D gene (c.60dupA). Four variants were novel extending the disease mutation spectrum. In three affected individuals, no variants of interest were identified in genes associated with TCS or clinically overlapping conditions. Additionally, no relevant variant was detected in genes encoding other subunits of RNA polymerase (pol) I. Molecular analysis is important to provide accurate genetic counseling. It would also contribute to reduced disease incidence. Further studies should be designed to investigate other possible etiologies when no pathogenic variants were revealed in either of the known genes.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 4","pages":"156-161"},"PeriodicalIF":0.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10566630","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
Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism. ARID1B相关Coffin-Siris综合征的复发可能是性腺嵌合体所致。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-08-10 DOI: 10.1097/MCD.0000000000000473
Eyyup Uctepe, Bekir Erguner, Fatma Mujgan Sonmez
{"title":"Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.","authors":"Eyyup Uctepe, Bekir Erguner, Fatma Mujgan Sonmez","doi":"10.1097/MCD.0000000000000473","DOIUrl":"10.1097/MCD.0000000000000473","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 4","pages":"180-183"},"PeriodicalIF":0.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10548133","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
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family. 外显子组测序数据的扩展分析表明，在一个印度家族中，FUCA1 基因的第 3 和第 4 外显子存在新的同基因缺失，导致岩藻糖苷酶病。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 Epub Date: 2023-02-28 DOI: 10.1097/MCD.0000000000000452
Michelle C do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla
{"title":"Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.","authors":"Michelle C do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla","doi":"10.1097/MCD.0000000000000452","DOIUrl":"10.1097/MCD.0000000000000452","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"112-115"},"PeriodicalIF":0.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10217546","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
DEGS1 -related leukodystrophy: a clinical report and review of literature. DEGS1相关脑白质营养不良:临床报告及文献回顾。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000457
Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh
{"title":"DEGS1 -related leukodystrophy: a clinical report and review of literature.","authors":"Melissa Song Ting Wong,&nbsp;Terrence Thomas,&nbsp;Jiin Ying Lim,&nbsp;Sylvia Kam,&nbsp;Jing Xian Teo,&nbsp;Jianhong Ching,&nbsp;Chew Yin Jasmine Goh,&nbsp;Saumya Shekhar Jamuar,&nbsp;Weng Khong Lim,&nbsp;Ai Ling Koh","doi":"10.1097/MCD.0000000000000457","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000457","url":null,"abstract":"<p><strong>Background: </strong>Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1 , coding for desaturase 1 (Des1) protein, were recently reported to be associated with hypomyelinating leukodystrophy (HLD), a subclass of leukodystrophies where the formation of the myelin sheath is affected.</p><p><strong>Methods: </strong>Genomic sequencing was performed on our index patient with severe developmental delay, severe failure to thrive, dystonia, seizures, and hypomyelination on brain imaging. Sphingolipid analysis was performed and dihydroceramide/ceramide (dhCer/Cer) ratios were obtained by the measurement of ceramide and dihydroceramide species.</p><p><strong>Results: </strong>A homozygous missense variant was identified in DEGS1 (c.565A > G:p Asn189Asp). The identified DEGS1 variant has been annotated as \"conflicting reports of pathogenicity\" on ClinVar. Follow-up sphingolipid analysis on our patient showed significantly raised dhCer/Cer and this was consistent with dysfunction of the Des1 protein, providing additional evidence to support the pathogenicity of this variant.</p><p><strong>Conclusion: </strong>While rare, pathogenic variants in DEGS1 should be considered in patients with HLD phenotype. To date, 25 patients have been reported across four studies on DEGS1 -related HLD, and, in this report, we summarize the literature. More such reports will enable deeper phenotypic characterization of this disorder.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"106-111"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226599","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: 1
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9. 伴有SAMD9中新型Lys1024Glu错义变异的10岁女孩的MIRAGE综合征
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000460
Tayfun Cinleti, Ali Gülen, Beria Sönmez, Semra Gürsoy, Özge Kangalli Boyacioğlu, Suna Asilsoy, Ayfer Ulgenalp, Özlem Giray Bozkaya, Ahmet Okay Çağlayan
{"title":"MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.","authors":"Tayfun Cinleti,&nbsp;Ali Gülen,&nbsp;Beria Sönmez,&nbsp;Semra Gürsoy,&nbsp;Özge Kangalli Boyacioğlu,&nbsp;Suna Asilsoy,&nbsp;Ayfer Ulgenalp,&nbsp;Özlem Giray Bozkaya,&nbsp;Ahmet Okay Çağlayan","doi":"10.1097/MCD.0000000000000460","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000460","url":null,"abstract":"Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics, Department of Medical Genetics, School of Medicine, Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Allergy and Immunology and Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylul University, Izmir, Turkey Correspondence to Tayfun Cinleti, MD, Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics, Dokuz Eylül University Research and Application Hospital, Inciraltı Mahallesi Mithatpaşa Street No. 56, İzmir 35330, Turkey Tel: +90 5344331999; e-mail: cinleti@yahoo.com","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"133-138"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10593297","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
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld-Rieger syndrome: case report and review of literature. 越南Axenfeld-Rieger综合征患儿基因内FOXC1缺失:病例报告和文献复习。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000458
Ashley Shuen Ying Hong, Jiin Ying Lim, Mas Suhaila Isa, Wendy Kein-Meng Liew, Barrie Tan, Ching Lin Ho, Seo Wei Leo, Saumya Shekhar Jamuar
{"title":"Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld-Rieger syndrome: case report and review of literature.","authors":"Ashley Shuen Ying Hong,&nbsp;Jiin Ying Lim,&nbsp;Mas Suhaila Isa,&nbsp;Wendy Kein-Meng Liew,&nbsp;Barrie Tan,&nbsp;Ching Lin Ho,&nbsp;Seo Wei Leo,&nbsp;Saumya Shekhar Jamuar","doi":"10.1097/MCD.0000000000000458","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000458","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"124-128"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10593299","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
Fetal methotrexate syndrome following an unsuccessful medication abortion - a rare syndrome posed to become more common. 胎儿甲氨蝶呤综合征后不成功的药物流产-一种罕见的综合征，提出成为更常见。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000459
Peter W Joslyn, Amanda K Barkemeyer, Raegan W Gupta, Brian M Barkemeyer
{"title":"Fetal methotrexate syndrome following an unsuccessful medication abortion - a rare syndrome posed to become more common.","authors":"Peter W Joslyn,&nbsp;Amanda K Barkemeyer,&nbsp;Raegan W Gupta,&nbsp;Brian M Barkemeyer","doi":"10.1097/MCD.0000000000000459","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000459","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"129-132"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10593301","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
Extending the phenotype of Shashi-Pena syndrome: a case report and review of literature. 扩展沙-潘综合征的表型:1例报告及文献复习。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000462
Stephanie Ka Lun Ho, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Lai-Ting Leung, Emily Kai Yee Lam, Myth Tsz Shun Mok, Ivan Fai Man Lo, Ho-Ming Luk
{"title":"Extending the phenotype of Shashi-Pena syndrome: a case report and review of literature.","authors":"Stephanie Ka Lun Ho,&nbsp;Shirley Sze Wing Cheng,&nbsp;Timothy Hua Tse Cheng,&nbsp;Lai-Ting Leung,&nbsp;Emily Kai Yee Lam,&nbsp;Myth Tsz Shun Mok,&nbsp;Ivan Fai Man Lo,&nbsp;Ho-Ming Luk","doi":"10.1097/MCD.0000000000000462","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000462","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"139-146"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226601","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
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype. 两种新的CSNK2A1变异与轻度Okur-Chung神经发育综合征表型相关。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000456
Mohamed Wafik, Heidi Kuoppamaa, Priyal Hirani, John Hignett, Suzanne Lillis, Karine Lascelles, Shweta Sardesai, Kumudini Gomez, Muriel Holder-Espinasse
{"title":"Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype.","authors":"Mohamed Wafik,&nbsp;Heidi Kuoppamaa,&nbsp;Priyal Hirani,&nbsp;John Hignett,&nbsp;Suzanne Lillis,&nbsp;Karine Lascelles,&nbsp;Shweta Sardesai,&nbsp;Kumudini Gomez,&nbsp;Muriel Holder-Espinasse","doi":"10.1097/MCD.0000000000000456","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000456","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"116-123"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226596","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
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