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Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene. 由TBL1XR1基因c.1337A>G突变引起的Pierpont综合征。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000416
Marketa Tesarova, Alice Baxova, Hana Hansikova, Lukas Lambert, Alzbeta Vondrackova, Alena Leiska, Jiri Zeman
{"title":"Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.","authors":"Marketa Tesarova, Alice Baxova, Hana Hansikova, Lukas Lambert, Alzbeta Vondrackova, Alena Leiska, Jiri Zeman","doi":"10.1097/MCD.0000000000000416","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000416","url":null,"abstract":"Department of Paediatrics and Adolescent Medicine, Institute of Biology and Medical Genetics and Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic Correspondence to Jiri Zeman, MD, PhD, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic Tel: +42","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280206","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: 3
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. 单亲二体作为x连锁点状软骨发育不良的机制。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 Epub Date: 2022-03-07 DOI: 10.1097/MCD.0000000000000419
Emily Woods, Michael Yates, Farah Kanani, Meena Balasubramanian
{"title":"Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.","authors":"Emily Woods, Michael Yates, Farah Kanani, Meena Balasubramanian","doi":"10.1097/MCD.0000000000000419","DOIUrl":"10.1097/MCD.0000000000000419","url":null,"abstract":"<p><p>We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This patient was homozygous for ARSL NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental disomy is a type of chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders and X-linked recessive disorders in females, and be a cause of autosomal recessive conditions when only one parent is a carrier. The patient described highlights that uniparental disomy can be a rare cause of X-linked recessive conditions. This mode of inheritance has not been previously described in this condition.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223419","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
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report. 肌肉骨骼异常和一个新的基因组变异的成人患者与儿童综合征:一个病例报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000422
Rafael Martínez, Camilo Peña, Manuela Quiroga-Carrillo, Camila Ordóñez-Reyes, Julián Rincón, Fernando Suárez-Obando, Sergio Nossa, María Fernanda García
{"title":"Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.","authors":"Rafael Martínez,&nbsp;Camilo Peña,&nbsp;Manuela Quiroga-Carrillo,&nbsp;Camila Ordóñez-Reyes,&nbsp;Julián Rincón,&nbsp;Fernando Suárez-Obando,&nbsp;Sergio Nossa,&nbsp;María Fernanda García","doi":"10.1097/MCD.0000000000000422","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000422","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574100","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
"Laurin-Sandrow Syndrome - a review of the literature and classification system". 劳林-桑德罗综合征-文献综述及分类系统。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000420
Cezar Buzea, Nathalie Boulanger
{"title":"\"Laurin-Sandrow Syndrome - a review of the literature and classification system\".","authors":"Cezar Buzea,&nbsp;Nathalie Boulanger","doi":"10.1097/MCD.0000000000000420","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000420","url":null,"abstract":"<p><strong>Introduction: </strong>Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.</p><p><strong>Materials and methods: </strong>The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: \"Laurin-Sandrow syndrome\", \"mirror hands\", \"mirror feet\", \"tetramelic mirror-image polydactyly\", \"fibular dimelia\" and \"ulnar dimelia\". Clinical cases, reviews and original articles were included.</p><p><strong>Results: </strong>As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.</p><p><strong>Conclusion: </strong>Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10216521","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
Acalvaria and imperforate anus: an extremely rare association. 无骨畸形和闭锁肛门:一种极其罕见的联系。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000417
Gabriel Del Castillo-Calderón, Gloria Aurora Delgado-Nacaza, Maria Camila Hernández-Obando, Hector Eraso-Narváez, José Darío Portillo-Miño
{"title":"Acalvaria and imperforate anus: an extremely rare association.","authors":"Gabriel Del Castillo-Calderón,&nbsp;Gloria Aurora Delgado-Nacaza,&nbsp;Maria Camila Hernández-Obando,&nbsp;Hector Eraso-Narváez,&nbsp;José Darío Portillo-Miño","doi":"10.1097/MCD.0000000000000417","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000417","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223415","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 genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature. 硫胺素代谢功能障碍综合征的临床和遗传学研究-4:病例系列和文献综述。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000411
Bahadir M Samur, Gülsüm Gümüş, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ahmet Okay Cağlayan
{"title":"Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.","authors":"Bahadir M Samur,&nbsp;Gülsüm Gümüş,&nbsp;Mehmet Canpolat,&nbsp;Hakan Gümüş,&nbsp;Hüseyin Per,&nbsp;Ahmet Okay Cağlayan","doi":"10.1097/MCD.0000000000000411","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000411","url":null,"abstract":"<p><p>Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188987/pdf/nihms-1768042.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10591816","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
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant. 由一种新的错义ANKRD11变异引起的KBG综合征患者的肠内瘘。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000421
Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Ozlem Yildirim, Ahmet Arman
{"title":"Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.","authors":"Bilgen Bilge Geckinli,&nbsp;Ceren Alavanda,&nbsp;Esra Arslan Ates,&nbsp;Ozlem Yildirim,&nbsp;Ahmet Arman","doi":"10.1097/MCD.0000000000000421","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000421","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574098","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 implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic. 嵌合的临床意义:一个大学附属遗传学诊所的83个家庭的10年回顾性审查。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000418
Mianne Lee, Adrian C Y Lui, Christopher C Y Mak, Mandy H Y Tsang, Jasmine L F Fung, K S Yeung, Brian Hon Yin Chung
{"title":"Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.","authors":"Mianne Lee,&nbsp;Adrian C Y Lui,&nbsp;Christopher C Y Mak,&nbsp;Mandy H Y Tsang,&nbsp;Jasmine L F Fung,&nbsp;K S Yeung,&nbsp;Brian Hon Yin Chung","doi":"10.1097/MCD.0000000000000418","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000418","url":null,"abstract":"<p><p>Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive (n = 6), prenatal (n = 24), and postnatal (n = 53) testing were examined. We observed that mosaic 45, X (n = 31) and PIK3CA-related overgrowth spectrum (n = 16) disorders were among the most prevalent diagnoses in the clinic, and the total percentage of patients with mosaicism in our cohort was 2.0% (83/4157). A review of the diagnostic journey highlights the challenge in diagnosing mosaic disorders, whereby 38% of the subjects required more than one test sample, and 52% of the cases required more than one orthogonal method of detection to reach the correct diagnosis. While detection of mosaicism is passive through routine clinical testing, for example karyotyping in reproductive and prenatal care, in postnatal care, clinicians can more actively drive the detection of mosaicism. Therefore, we recommend a low threshold for additional genetic testing in suspected mosaicism for more accurate diagnosis and counselling.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223417","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
Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature. 罕见的非典型MRKH综合征伴乳房畸形:1例报告及文献复习。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000414
Reeta Mahey, Anjali Ramaswamy, Rohitha Cheluvaraju, Smita Manchanda, Neerja Bhatla
{"title":"Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature.","authors":"Reeta Mahey,&nbsp;Anjali Ramaswamy,&nbsp;Rohitha Cheluvaraju,&nbsp;Smita Manchanda,&nbsp;Neerja Bhatla","doi":"10.1097/MCD.0000000000000414","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000414","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226863","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
Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report. 1型Crisponi/冷致出汗综合征患者的牙科治疗1例报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2022-07-01 DOI: 10.1097/MCD.0000000000000413
Ebru Akleyin, Merve Yeniçeri Özata, Giangiorgio Crisponi
{"title":"Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.","authors":"Ebru Akleyin,&nbsp;Merve Yeniçeri Özata,&nbsp;Giangiorgio Crisponi","doi":"10.1097/MCD.0000000000000413","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000413","url":null,"abstract":"Introduction In this case, extensive dental caries and restricted mouth opening were identified in a 9-year-old Turkish girl with Crisponi/cold-induced sweating syndrome type 1 (CS/ CISS1) who had hyperthermia, facial muscle contractions, and camptodactyly. Oral rehabilitation, including preventive and restorative treatment procedures, was applied. This report shows that puree feeding, decreased motor function, and lack of oral hygiene stand out as a factor in forming dental caries in CS/CISS1.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574092","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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