Clinical Dysmorphology最新文献

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"title":"Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant.","authors":"Xiang Pan,&nbsp;Jun Lu","doi":"10.1097/MCD.0000000000000436","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000436","url":null,"abstract":"Introduction Kleefstra syndrome (KS) (OMIM #610253) is caused by a heterozygous microdeletion of chromosome 9q34.3 region or a pathogenic variation in the euchromatin histone methyltransferase 1 (EHMT1) gene (OMIM #607001). The EHMT1 gene located at chromosome 9q34.3 region, which contains a total of 28 exons, and the initiation of ATG occurs in exon 2 (Kleefstra et al., 2006). Kleefstra et al. (2009) reported 16 patients with 9q subtelomeric deletion syndrome and six patients with an intragenic EHMT1 mutation. All patients presented with the core phenotype of the deletion syndrome, and there were no phenotype-genotype correlations between size of the deletions or type of mutations and severity of clinical features, so they concluded that the haploinsufficiency of EHMT1 gene was the basis for the phenotypic features of the deletion syndrome. There are more than 100 cases of KS reported so far, of which about 75% are caused by a heterozygous microdeletion in the 9q34.3 region containing the EHMT1 gene, and 25% are caused by loss-of-function, intragenic EHMT1 variants (Atik et al., 2015). We report an individual with KS1 and multiple Mongolian spots (also known as congenital dermal melanocytosis) caused by a novel pathogenic nonsense variant NM_024757:exon 9:c.1468C >T(p.R490*) in the EHMT1 gene. Case report An 11-month-old girl born at 37 weeks of gestational age to a 27-year-old G1P0 → 1 mother was referred to our clinics because of motor developmental delay (DD). Pregnancy and family history were noncontributory. She achieved head control by 5 months, and could sit up independently by 10 months but was not able to crawl or say simple words such as ‘Mom’ or ‘Dad’. Growth parameters were as follows: weight 7.0 kg (<3rd centile), length 67.5 cm (<3rd centile), head circumference 41.0 cm (<3rd centile). Indifferent reaction, not easy to be amused, unable to actively look at others, no response to name. The back, buttocks, and the outside of the right thigh were diffusely distributed with bluish-brown Mongolian spots (Fig. 1). The head circumference was small (Microcephaly) and the front and back diameter of the head was short. Special facial features: highly arched","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"29-31"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3d/27/cd-32-29.PMC9741983.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227465","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}