Clinical Dysmorphology最新文献_第9页

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, Eirik Bratland, Kakha Bregvadze, Teona Shatirishvili, Nino Tatishvili, Elene Abzianidze, Gunnar Houge, Sofia Douzgou","doi":"10.1097/MCD.0000000000000461","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000461","url":null,"abstract":"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.","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, Ayberk Turkyilmaz, Ceren Alavanda, Gunes Sager, Esra Arslan Ates, Mehmet Ali Soylemez, Ahmet Arman","doi":"10.1097/MCD.0000000000000454","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000454","url":null,"abstract":"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.","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

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

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

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

引用次数: 0

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

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, Emilia K Bijlsma, Gunnar Houge, Gabriela Jones, Violeta Mikštienė, Eglė Preikšaitienė, Louise Thompson, Katrina Tatton-Brown","doi":"10.1097/MCD.0000000000000455","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000455","url":null,"abstract":"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.","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

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

引用次数: 0