Clinical Dysmorphology最新文献

{"title":"Bloom syndrome in children: unusual case of early onset lung damage.","authors":"Houda Ajmi, Ines Trabelsi, Khouloud Rjiba, Sameh Mabrouk, Noura Zouari, Soumaya Mougou-Zerelli, Alain Verloes, 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, 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}

{"title":"3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.","authors":"Chloe Jade Ashton,&nbsp;Rahat Perveen,&nbsp;Glenda Beaman,&nbsp;Giangiorgio Crisponi,&nbsp;Ariadna González-Del Angel,&nbsp;Gilda Garza-Mayén,&nbsp;Miguel Angel Alcántara-Ortigoza,&nbsp;James O'Sullivan,&nbsp;Jill Clayton-Smith","doi":"10.1097/MCD.0000000000000443","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000443","url":null,"abstract":"<p><p>The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit genitourinary and skeletal anomalies. A clinical clue to 3MC syndrome is the presence of a characteristic caudal appendage. Genetic variants in MASP1, COLEC11 and COLEC10 genes have been identified as the causation of this syndrome, yet relatively few patients have been described so far. We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the clinical and molecular findings in five patients. This includes follow-up of two brothers whose clinical phenotypes were first reported by Crisponi et al in 1999. Our study contributes to the evolving clinical and molecular spectrum of 3MC syndrome.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"7-13"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10229510","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 guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability.","authors":"Gunes Sager,&nbsp;Ayberk Türkyilmaz,&nbsp;Yasemin Dilek Hanedar,&nbsp;Hediye Pinar Günbey,&nbsp;Yasemin Akin","doi":"10.1097/MCD.0000000000000433","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000433","url":null,"abstract":"Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Departments of Pediatric Gastroenetrology, Radiology and Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey Correspondence to Gunes Sager, MD, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Semsi Denizer Avenue, Cevizli, 34890, Kartal, Istanbul, Turkey Tel: +905055983104; e-mail: sgunessenturk@gmail.com","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"18-20"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10723728","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":"Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?","authors":"Shauna Quinn,&nbsp;Karl Kavanagh,&nbsp;Linda McArdle,&nbsp;David Betts,&nbsp;Sally-Ann Lynch","doi":"10.1097/MCD.0000000000000440","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000440","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"39-42"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227483","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}