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Clinical Dysmorphology最新文献

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Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects. 在没有头皮先天性皮肤发育不全和末端横肢缺陷的个体中，一种新的DOCK6变异的纯合性。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000450
Mona Zaersabet, Shabnaz Koochakkhani, Yeganeh Sarmast, Hamzeh Salmani
{"title":"Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.","authors":"Mona Zaersabet, Shabnaz Koochakkhani, Yeganeh Sarmast, Hamzeh Salmani","doi":"10.1097/MCD.0000000000000450","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000450","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"84-87"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574637","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
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients. PHF21A神经发育障碍:对13例患者临床资料的评价
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000455
Rebecca L Poole, Emilia K Bijlsma, Gunnar Houge, Gabriela Jones, Violeta Mikštienė, Eglė Preikšaitienė, Louise Thompson, Katrina Tatton-Brown
{"title":"The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.","authors":"Rebecca L Poole,&nbsp;Emilia K Bijlsma,&nbsp;Gunnar Houge,&nbsp;Gabriela Jones,&nbsp;Violeta Mikštienė,&nbsp;Eglė Preikšaitienė,&nbsp;Louise Thompson,&nbsp;Katrina Tatton-Brown","doi":"10.1097/MCD.0000000000000455","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000455","url":null,"abstract":"<p><p>Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A variants have previously been associated with a specific disorder that, whilst sharing some features of PSS, has notable differences. This study aims to expand the phenotype, particularly in relation to overgrowth, associated with PHF21A variants. Analysis of phenotypic data was undertaken on 13 individuals with PHF21A constitutional variants including four individuals described in the current series. Of those individuals where data were recorded, postnatal overgrowth was reported in 5/6 (83%). In addition, all had both an intellectual disability and behavioural issues. Frequent associations included postnatal hypotonia (7/11, 64%); and at least one afebrile seizure episode (6/12, 50%). Although a recognizable facial gestalt was not associated, subtle dysmorphic features were shared amongst some individuals and included a tall broad forehead, broad nasal tip, anteverted nares and full cheeks. We provide further insight into the emerging neurodevelopmental syndrome associated with PHF21A disruption. We present some evidence that PHF21A might be considered a new member of the overgrowth-intellectual disability syndrome (OGID) family.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"49-54"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9501110","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 characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion. 由从头部分缺失引起的CNOT2单倍功能不全患者的临床特征。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000444
Raquel Rodrigues, Mariana Soeiro E Sá, Ana Sousa, Ana Berta Sousa
{"title":"Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion.","authors":"Raquel Rodrigues,&nbsp;Mariana Soeiro E Sá,&nbsp;Ana Sousa,&nbsp;Ana Berta Sousa","doi":"10.1097/MCD.0000000000000444","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000444","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"70-73"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10217525","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
Restrictive dermopathy due to ZMPSTE24 deficiency. ZMPSTE24 缺乏症导致的限制性皮肤病。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 Epub Date: 2023-02-17 DOI: 10.1097/MCD.0000000000000453
Athina Ververi, Evgeniya Babatseva, Georgios Mitsiakos, Georgia Karagiannopoulou, Marina Malakozi, Aikaterini Patsatsi, Elisavet Diamanti, Abhimanyu Garg
{"title":"Restrictive dermopathy due to ZMPSTE24 deficiency.","authors":"Athina Ververi, Evgeniya Babatseva, Georgios Mitsiakos, Georgia Karagiannopoulou, Marina Malakozi, Aikaterini Patsatsi, Elisavet Diamanti, Abhimanyu Garg","doi":"10.1097/MCD.0000000000000453","DOIUrl":"10.1097/MCD.0000000000000453","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"92-94"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10643856","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
Bloom syndrome in children: unusual case of early onset lung damage. 儿童布鲁姆综合征:早发性肺损伤的罕见病例。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000448
Houda Ajmi, Ines Trabelsi, Khouloud Rjiba, Sameh Mabrouk, Noura Zouari, Soumaya Mougou-Zerelli, Alain Verloes, Saoussan Abroug
{"title":"Bloom syndrome in children: unusual case of early onset lung damage.","authors":"Houda Ajmi,&nbsp;Ines Trabelsi,&nbsp;Khouloud Rjiba,&nbsp;Sameh Mabrouk,&nbsp;Noura Zouari,&nbsp;Soumaya Mougou-Zerelli,&nbsp;Alain Verloes,&nbsp;Saoussan Abroug","doi":"10.1097/MCD.0000000000000448","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000448","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"95-96"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10643857","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
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report. Nicolaides-Baraitser综合征患者hashit中毒1例报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-04-01 DOI: 10.1097/MCD.0000000000000446
Claudia Jessy Henriquez-Lopez, Scott McLean
{"title":"Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report.","authors":"Claudia Jessy Henriquez-Lopez,&nbsp;Scott McLean","doi":"10.1097/MCD.0000000000000446","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000446","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 2","pages":"77-79"},"PeriodicalIF":0.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574625","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
The dysmorphic phenotype in vascular Ehlers Danlos syndrome. 血管性Ehlers - Danlos综合征的畸形表型。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000437
James R Lyness, Patrick J Morrison
{"title":"The dysmorphic phenotype in vascular Ehlers Danlos syndrome.","authors":"James R Lyness,&nbsp;Patrick J Morrison","doi":"10.1097/MCD.0000000000000437","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000437","url":null,"abstract":"<p><p>The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology. This review charts the paediatric and adult phenotypes of vEDS due primarily to COL3A1 gene variants and the potential recognition of some other EDS subtypes, including COL1A1 and COL25A1 that can present with vEDS-like features, with certain dysmorphic handles as clues to the diagnosis and the adjunct of gene testing in patients presenting with vEDS features.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"1-6"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10705395","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 FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes. 在有或没有肛门直肠和肾脏异常的双裂鼻和马尼托巴-眼-毛-肛门综合征之间的中间表型个体中发现了新的FREM1纯合变异。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000438
Sarah Berrada, Amal Tazzite, Wafaa Bouzroud, Bouchaib Gazzaz, Mouna Lehlimi, Hind Dehbi
{"title":"Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes.","authors":"Sarah Berrada,&nbsp;Amal Tazzite,&nbsp;Wafaa Bouzroud,&nbsp;Bouchaib Gazzaz,&nbsp;Mouna Lehlimi,&nbsp;Hind Dehbi","doi":"10.1097/MCD.0000000000000438","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000438","url":null,"abstract":"Introduction The FREM1gene encodes for the Fraser Extracellular Matrix Complex Subunit 1-related extracellular matrix protein 1: FREM1 (Beck et al., 2013), which plays an important role in epidermal differentiation and adhesion during embryonic development. Protein deficiency causes a large phenotypic spectrum including Manitobaoculo-tricho-anal (MOTA) and Bifid Nose with or without Anorectal and Renal Anomalies (BNAR) syndromes. However, the phenotypic spectrum related to variants in FREM1 gene is more pleiotropic (Chacon-Camacho et al., 2017) and further investigations are needed to more accurately define it.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"36-38"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227482","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
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient. 脊髓小脑共济失调常染色体隐性遗传21型和ehers - danlos综合征3型脊椎发育不良患者的共存。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000435
Engin Demir, Ümmühan Öncül, Merve Havan, Ceyda Tuna Kirsaçlioğlu, Fatma Tuba Eminoğlu, Tanil Kendirli, Zarife Kuloğlu, Aydan Kansu
{"title":"Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient.","authors":"Engin Demir,&nbsp;Ümmühan Öncül,&nbsp;Merve Havan,&nbsp;Ceyda Tuna Kirsaçlioğlu,&nbsp;Fatma Tuba Eminoğlu,&nbsp;Tanil Kendirli,&nbsp;Zarife Kuloğlu,&nbsp;Aydan Kansu","doi":"10.1097/MCD.0000000000000435","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000435","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"25-28"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10705396","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
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome. 复合颅面裂和副上颌骨在眼耳额鼻综合征中的表现。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000434
Henrique R Serigatto, Nancy M Kokitsu-Nakata, Priscila P Moura, Siulan Vendramini-Pittoli, Luiza A Virmond, Adriano P Peixoto, Cristiano Tonello, Luciano A Brito, Maria R Passos-Bueno, Roseli M Zechi-Ceide
{"title":"Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.","authors":"Henrique R Serigatto,&nbsp;Nancy M Kokitsu-Nakata,&nbsp;Priscila P Moura,&nbsp;Siulan Vendramini-Pittoli,&nbsp;Luiza A Virmond,&nbsp;Adriano P Peixoto,&nbsp;Cristiano Tonello,&nbsp;Luciano A Brito,&nbsp;Maria R Passos-Bueno,&nbsp;Roseli M Zechi-Ceide","doi":"10.1097/MCD.0000000000000434","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000434","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"21-24"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10723727","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
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