Clinical Dysmorphology最新文献_第6页

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience. 18三体胎儿的综合表型:围产期中心经验。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-11-29 DOI: 10.1097/MCD.0000000000000481

Mangalore S Shravya, Katta M Girisha, Shalini S Nayak

{"title":"Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.","authors":"Mangalore S Shravya, Katta M Girisha, Shalini S Nayak","doi":"10.1097/MCD.0000000000000481","DOIUrl":"10.1097/MCD.0000000000000481","url":null,"abstract":"Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy. Appropriate fetal tissues were obtained to perform genomic testing. We observed trisomy 18 in 16 fetuses (2%) in our cohort of 784 fetal/neonatal losses and a perinatal autopsy was performed on all of them. Abnormal facial profile was the most frequent anomaly (10/16, 62%) followed by anomalies of the extremities (9/16, 56%), and cardiac defects (6/16, 37%). We also observed esophageal atresia, diaphragmatic hernia, and neural tube defect. The study represents one of the largest cohorts of trisomy 18 from a perinatal center from a developing country and highlights the clinical heterogeneity attributed to trisomy 18. We also report a recurrence of trisomy 18 in a family.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"16-26"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464148","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

Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication. 纹状骨病合并颅硬化的烟雾病/脑血管病:罕见但重要的并发症。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-11-29 DOI: 10.1097/MCD.0000000000000479

Lucy Scrimshaw, Kathleen Gorman, Sahar Mansour, Vijeya Ganesan, Ataf Sabir

{"title":"Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication.","authors":"Lucy Scrimshaw, Kathleen Gorman, Sahar Mansour, Vijeya Ganesan, Ataf Sabir","doi":"10.1097/MCD.0000000000000479","DOIUrl":"10.1097/MCD.0000000000000479","url":null,"abstract":"Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant sclerosing osteodysplasia, due to AMER1 pathogenic variants. Characteristic features include craniofacial sclerosis and long-bone metaphyseal striations. Moyamoya disease (a type of progressive cerebral vasculopathy) and other types of cerebral vascular disease are not currently clearly associated with OSCS (except for two separate case reports), and can often first present with stroke. Through informal networks with UK-based bone experts and the UK skeletal dysplasia group, three cases from the UK and Ireland were identified. Medical literature was also reviewed to identify the known cases of OSCS with the described complications. We report four females, in whom OSCS and cerebral vasculopathy co-exist, with varying clinical outcomes. There appears to be an emerging association between OSCS and cerebral vasculopathy, which pre-disposes patients to stroke. Given this, screening OSCS patients for cerebral vasculopathy may be of value, especially pre-surgery. Further research regarding optimal screening and management is needed. The mechanism of cerebral vasculopathy and its progression remain unclear.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"31-37"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464150","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

To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening. To B（enign）or Not To B：通过新生儿筛查确定的轻度精氨酸琥珀酸裂解酶缺乏症变体的功能化。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-10-13 DOI: 10.1097/MCD.0000000000000475

Thurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, James Soon Chuan Lim, Christine Bee Keow Ong, Jasmine Chew Yin Goh, Jiin Ying Lim, Fang Kuan Chiou, Saumya Shekhar Jamuar

{"title":"To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.","authors":"Thurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, James Soon Chuan Lim, Christine Bee Keow Ong, Jasmine Chew Yin Goh, Jiin Ying Lim, Fang Kuan Chiou, Saumya Shekhar Jamuar","doi":"10.1097/MCD.0000000000000475","DOIUrl":"10.1097/MCD.0000000000000475","url":null,"abstract":"Argininosuccinate lyase (ASL) deficiency is an autosomal recessive disorder of the urea cycle with a diverse spectrum of clinical presentation that is detectable in newborn screening. We report an 8-year-old girl with ASL deficiency who was detected through newborn screening and was confirmed using biochemical and functional assay. She is compound heterozygous for a likely pathogenic variant NM_000048.4(ASL):c.283C>T (p.Arg95Cys) and a likely benign variant NM_000048.4(ASL): c.1319T>C (p.Leu440Pro). Functional characterisation of the likely benign genetic variant in ASL was performed. Genomic sequencing was performed on the index patient presenting with non-specific symptoms of poor feeding and lethargy and shown to have increased serum and urine argininosuccinic acid. Functional assay using HEK293T cell model was performed. ASL enzymatic activity was reduced for Leu440Pro. This study highlights the role of functional testing of a variant that may appear benign in a patient with a phenotype consistent with ASL deficiency, and reclassifies NM_000048.4(ASL): c.1319T>C (p.Leu440Pro) variant as likely pathogenic.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"43-49"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49684586","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

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus. KCNK18双等位基因变异是智力残疾和伴有热性惊厥的癫痫的原因的进一步证据。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-05-05 DOI: 10.1097/MCD.0000000000000463

Purvi Majethia, Rhea Harish, Dhanya Lakshmi Narayanan, Yatheesha B L, Suvasini Sharma, Anju Shukla

{"title":"Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.","authors":"Purvi Majethia, Rhea Harish, Dhanya Lakshmi Narayanan, Yatheesha B L, Suvasini Sharma, Anju Shukla","doi":"10.1097/MCD.0000000000000463","DOIUrl":"10.1097/MCD.0000000000000463","url":null,"abstract":"Introduction: KCNK18 , a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ channel (TRESK) and is important for maintaining neuronal excitability. Monoallelic variants in KCNK18 are known to cause autosomal dominant migraine, with or without aura, susceptibility to, 13 (MIM#613656). Recently, biallelic missense variants in KCNK18 have been reported in three individuals from a non-consanguineous family with intellectual disability, developmental delay, autism spectrum disorder (ASD), and seizure.Methods: Singleton exome sequencing was performed for the proband after detailed clinical evaluation to identify the disease-causing variants in concordance with the phenotype.Results: We herein report an individual with intellectual disability, developmental delay, ASD, and epilepsy with febrile seizure plus with a novel homozygous stopgain variant, c.499C>T p.(Arg167Ter) in KCNK18 .Conclusion: This report further validates KCNK18 as a cause of autosomal recessive intellectual disability, epilepsy, and ASD.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 4","pages":"147-150"},"PeriodicalIF":0.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10195631","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

Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort. 常染色体隐性遗传性大骨骺发育不良型耳脊髓：一项儿科队列的综合临床综述。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-07-04 DOI: 10.1097/MCD.0000000000000467

Hatice Mutlu, Nursel Elçioğlu, Esra Kiliç

{"title":"Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort.","authors":"Hatice Mutlu, Nursel Elçioğlu, Esra Kiliç","doi":"10.1097/MCD.0000000000000467","DOIUrl":"10.1097/MCD.0000000000000467","url":null,"abstract":"Autosomal recessive otospondylo-mega-epiphyseal dysplasia (OSMEDB) is characterized by short stature with short limbs, dysmorphic facial features, and hearing loss, which is caused by biallelic, loss-of-function, variants in the COL11A2 gene. Geno-phenotypic data from the medical records of eight affected individuals from five unrelated families was abstracted, recorded in an Excel spreadsheet and analyzed using simple frequency analysis. Either short femora or short extremities with or without other ultrasonographic abnormalities were demonstrated in five patients antenatally. The mean height was -2.29 SDS. Pectus deformity, including either chest asymmetry or pectus excavatum, was present in five patients. Bilateral hearing loss was verified in all patients. Severe speech delay and learning disabilities were present in two patients whose deafness was realized after the age of 12 months. Four novel loss-of-function variants in COL11A2 were found in this cohort. We present novel geno-phenotypic findings in a pediatric cohort with OSMEDB. The age of manifestation of short stature was variable, ranging from birth to middle childhood, and the severity of short stature varied even within the same family. Hearing loss may not be evident in the neonatal period and manifest later in OSMEDB. Intermittent hearing tests should be performed for early intervention of neurolinguistic delay and learning disabilities.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 4","pages":"151-155"},"PeriodicalIF":0.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10566627","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

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. 印度家庭先天性肌无力综合征分子特征的描述和文献综述。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-06-19 DOI: 10.1097/MCD.0000000000000465

Shivani Mishra, Karthik Vijay Nair, Anju Shukla

{"title":"Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.","authors":"Shivani Mishra, Karthik Vijay Nair, Anju Shukla","doi":"10.1097/MCD.0000000000000465","DOIUrl":"10.1097/MCD.0000000000000465","url":null,"abstract":"Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the underlying molecular defect. We performed a detailed clinical evaluation of seven patients from five unrelated families. Exome sequencing was performed on five index patients. Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/7). We identified two novel variants, c.930_933delCATG in DOK7 and c.1016_1032 + 2dup in CHRNE . A common pathogenic variant, c.955-2A>C, has been identified in COLQ -related CMS patients. Homozygosity mapping of this COLQ variant in patients from two unrelated families revealed that it was located in a common homozygous region of 3.2 Mb on chromosome 3 and was likely to be inherited from a common ancestor. Patients with COLQ variants had generalized muscle weakness, those with DOK7 and RAPSN variants had limb-girdle weakness, and those with CHRNE variants had predominant ocular weakness. Patients with COLQ and DOK7 variants showed improvement with salbutamol and CHRNE with pyridostigmine therapy. This study expands the mutational spectrum and adds a small but significant cohort of CMS patients from India. We also reviewed the literature to identify genetic subtypes of CMS in India.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 4","pages":"162-167"},"PeriodicalIF":0.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10566626","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

Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation. 一个具有新ROGD1突变的印度家族的Kohlschutter-Tonz综合征（无脑少汗综合征）。

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-10-01 Epub Date: 2023-08-02 DOI: 10.1097/MCD.0000000000000472

Vykuntaraju K Gowda, Arun Y Bylappa, Varunvenkat M Srinivasan, Varsha Manohar, Himani Pandey

引用次数: 0

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family. 外显子组测序数据的扩展分析表明，在一个印度家族中，FUCA1 基因的第 3 和第 4 外显子存在新的同基因缺失，导致岩藻糖苷酶病。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2023-07-01 Epub Date: 2023-02-28 DOI: 10.1097/MCD.0000000000000452

Michelle C do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla

引用次数: 0

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000457

Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh

{"title":"DEGS1 -related leukodystrophy: a clinical report and review of literature.","authors":"Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh","doi":"10.1097/MCD.0000000000000457","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000457","url":null,"abstract":"Background: Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1 , coding for desaturase 1 (Des1) protein, were recently reported to be associated with hypomyelinating leukodystrophy (HLD), a subclass of leukodystrophies where the formation of the myelin sheath is affected.Methods: Genomic sequencing was performed on our index patient with severe developmental delay, severe failure to thrive, dystonia, seizures, and hypomyelination on brain imaging. Sphingolipid analysis was performed and dihydroceramide/ceramide (dhCer/Cer) ratios were obtained by the measurement of ceramide and dihydroceramide species.Results: A homozygous missense variant was identified in DEGS1 (c.565A > G:p Asn189Asp). The identified DEGS1 variant has been annotated as \"conflicting reports of pathogenicity\" on ClinVar. Follow-up sphingolipid analysis on our patient showed significantly raised dhCer/Cer and this was consistent with dysfunction of the Des1 protein, providing additional evidence to support the pathogenicity of this variant.Conclusion: While rare, pathogenic variants in DEGS1 should be considered in patients with HLD phenotype. To date, 25 patients have been reported across four studies on DEGS1 -related HLD, and, in this report, we summarize the literature. More such reports will enable deeper phenotypic characterization of this disorder.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 3","pages":"106-111"},"PeriodicalIF":0.7,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226599","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

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9. 伴有SAMD9中新型Lys1024Glu错义变异的10岁女孩的MIRAGE综合征

IF 0.7 4区医学

Clinical Dysmorphology Pub Date : 2023-07-01 DOI: 10.1097/MCD.0000000000000460

Tayfun Cinleti, Ali Gülen, Beria Sönmez, Semra Gürsoy, Özge Kangalli Boyacioğlu, Suna Asilsoy, Ayfer Ulgenalp, Özlem Giray Bozkaya, Ahmet Okay Çağlayan

引用次数: 0