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Clinical Dysmorphology最新文献

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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, Jiin Ying Lim, Mas Suhaila Isa, Wendy Kein-Meng Liew, Barrie Tan, Ching Lin Ho, Seo Wei Leo, 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, Amanda K Barkemeyer, Raegan W Gupta, 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, 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","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, Heidi Kuoppamaa, Priyal Hirani, John Hignett, Suzanne Lillis, Karine Lascelles, Shweta Sardesai, Kumudini Gomez, 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
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly. MSMO1缺乏症:一种可能部分治疗的罕见神经发育障碍，伴有银屑病样皮炎、脱发和多指畸形。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000461
Tinatin Tkemaladze, Eirik Bratland, Kakha Bregvadze, Teona Shatirishvili, Nino Tatishvili, Elene Abzianidze, Gunnar Houge, Sofia Douzgou
{"title":"MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.","authors":"Tinatin Tkemaladze,&nbsp;Eirik Bratland,&nbsp;Kakha Bregvadze,&nbsp;Teona Shatirishvili,&nbsp;Nino Tatishvili,&nbsp;Elene Abzianidze,&nbsp;Gunnar Houge,&nbsp;Sofia Douzgou","doi":"10.1097/MCD.0000000000000461","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000461","url":null,"abstract":"<p><p>MSMO1 deficiency (OMIM #616834) is an ultrarare autosomal recessive disorder of distal cholesterol metabolism with only five cases reported to date. The disorder is caused by missense variants in the MSMO1 gene encoding methylsterol monooxygenase 1, leading to the accumulation of methylsterols. Clinically, MSMO1 deficiency is characterized by growth and developmental delay, often in association with congenital cataracts, microcephaly, psoriasiform dermatitis and immune dysfunction. Treatment with oral and topical cholesterol supplements and statins was reported to improve the biochemical, immunological, and cutaneous findings, supporting a potential treatment following the precision diagnosis of MSMO1 deficiency. We describe two siblings from a consanguineous family presenting with novel clinical features of polydactyly, alopecia and spasticity. Whole-exome sequencing revealed a novel, homozygous c.548A > C, p.(Glu183Ala) variant. Based on previously published treatment algorithms, we initiated a modified dosage regime with systemic cholesterol supplementation, statins and bile acid along with topical application of a cholesterol/statin formulation. This resulted in a marked improvement of psoriasiform dermatitis and some hair growth.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"97-105"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10593296","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
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome. 土耳其Warburg微综合征患者的新型纯合子RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9变异和染色体3q29重复
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000454
Bilge Geckinli, Ayberk Turkyilmaz, Ceren Alavanda, Gunes Sager, Esra Arslan Ates, Mehmet Ali Soylemez, Ahmet Arman
{"title":"Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.","authors":"Bilge Geckinli,&nbsp;Ayberk Turkyilmaz,&nbsp;Ceren Alavanda,&nbsp;Gunes Sager,&nbsp;Esra Arslan Ates,&nbsp;Mehmet Ali Soylemez,&nbsp;Ahmet Arman","doi":"10.1097/MCD.0000000000000454","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000454","url":null,"abstract":"<p><p>Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist. The RAB3GAP1 c.748 + 1G>A, p.Asp250CysfsTer24 founder variant has been described in families of Turkish ancestry. We report the clinical and molecular findings in three, unrelated, Turkish families with WARBM. A novel c.974-2A>G variant causing WARBM in three siblings of Turkish descent was found. Functional studies of the novel, c.2606 + 1G>A variant in patients' mRNA revealed skipping of exon 22 which results in a premature stop codon in exon 23. However, the clinical consequences of this variant are blended given that the individual also had a maternally inherited chromosome 3q29 microduplication.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"55-61"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10278339","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
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features. 在一个具有可变特征的黎巴嫩三代家族中，与阿拉吉尔综合征相关的新内含子JAG1变异。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000447
Johnny Awwad, Tony Yammine, Layal Hamdar, Mirna Souaid, Chantal Farra
{"title":"Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.","authors":"Johnny Awwad,&nbsp;Tony Yammine,&nbsp;Layal Hamdar,&nbsp;Mirna Souaid,&nbsp;Chantal Farra","doi":"10.1097/MCD.0000000000000447","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000447","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"80-83"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280752","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
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature. 新生儿鱼鳞病-硬化性胆管炎综合征:一种新的突变报告和文献综述。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000451
Engin Demir, Ceyda Tuna Kirsaçlioğlu, İnci Nur Saltik-Temizel, Gizem Ürel-Demir, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine, Zarife Kuloğlu, Aydan Kansu
{"title":"Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.","authors":"Engin Demir,&nbsp;Ceyda Tuna Kirsaçlioğlu,&nbsp;İnci Nur Saltik-Temizel,&nbsp;Gizem Ürel-Demir,&nbsp;Beren Karaosmanoğlu,&nbsp;Ekim Zihni Taşkiran,&nbsp;Pelin Özlem Şimşek-Kiper,&nbsp;Gülen Eda Utine,&nbsp;Zarife Kuloğlu,&nbsp;Aydan Kansu","doi":"10.1097/MCD.0000000000000451","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000451","url":null,"abstract":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Department of Pediatric Genetics, Department of Pediatrics and Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey Correspondence to Engin Demir, MD, Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara 06590, Turkey Tel: +90 505 395 04 45; e-mail: engindemir777@gmail.com","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"88-91"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574626","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
Aphallia in a neonate with VACTERL malformation: report of a rare association. 新生儿伴VACTERL畸形的阴茎下垂:一个罕见的关联报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000445
Kiruthi Krishnamoorthy, Giridhar Sethuraman, Usha Devi
{"title":"Aphallia in a neonate with VACTERL malformation: report of a rare association.","authors":"Kiruthi Krishnamoorthy,&nbsp;Giridhar Sethuraman,&nbsp;Usha Devi","doi":"10.1097/MCD.0000000000000445","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000445","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"74-76"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226029","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, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy. CDH3相关性毛少症伴幼年黄斑营养不良患者的临床、遗传和电镜研究
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000449
Ricardo Leal-Rodríguez, Tania Barragán-Arévalo, Armando Pérez-Torres, David M Giraldo-Gómez, Juan Carlos Zenteno
{"title":"Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy.","authors":"Ricardo Leal-Rodríguez,&nbsp;Tania Barragán-Arévalo,&nbsp;Armando Pérez-Torres,&nbsp;David M Giraldo-Gómez,&nbsp;Juan Carlos Zenteno","doi":"10.1097/MCD.0000000000000449","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000449","url":null,"abstract":"Retina Department, Instituto de Enfermedades y Cirugía Ocular (IECO), García Ginerés, Mérida Yucatán, Genetics Department, Institute of Ophthalmology ‘Conde de Valenciana’, Cell and Tissue Biology Department, Microscopy Core Facility and Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico Correspondence to Juan Carlos Zenteno, PhD, Department of Genetics, Institute of Ophthalmology ‘Conde de Valenciana’s, Chimalpopoca 14, Col. Obrera, Mexico City 06800, Mexico Tel: +52 55 54 42 17 00 ext 3212; e-mail: jczenteno@institutodeoftalmologia.org","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"62-64"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574629","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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