Clinical Dysmorphology最新文献

{"title":"Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.","authors":"Deniz Torun, Onur Akin","doi":"10.1097/MCD.0000000000000506","DOIUrl":"10.1097/MCD.0000000000000506","url":null,"abstract":"<p><strong>Objectives: </strong>Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome 15q11-q13. A variety of findings have been reported on the phenotypic differences between the genetic subtypes of PWS. This article compares the clinical findings of 57 PWS patients by genetic subtype and explores possible associations in this context.</p><p><strong>Methods: </strong>Methylation‑specific multiplex ligation-dependent probe amplification and single nucleotide polymorphism microarrays were used to diagnose deletion and uniparental disomy (UPD). For phenotype-genotype correlation, clinical data were collected and genetic subgroups were compared statistically, and P  < 0.05 was considered to indicate statistical significance.</p><p><strong>Results: </strong>These 57 patients consisted of 15 type I deletions, 20 type II deletions, six atypic deletions, 11 heterodisomy UPD, four isodisomy UPD, and one translocation-type PWS. All patients had hypotonia, poor neonatal sucking, and feeding difficulties during infancy. Other PWS-related clinical findings, such as speech articulation problems (85.9%), sleep apnea (77.2%), normal birth length (71.9%), small hands/feet (71.9%), childhood polyphagia (57.9%), clinodactyly (56.1%), thick viscous saliva (54.4%), and behavioral problems (50.9%) were observed at varying rates with no statistical difference between genetic subtypes in general.</p><p><strong>Conclusion: </strong>This study highlights the phenotype-genotype associations on PWS from a cohort of Turkish pediatric patients as a single-center experience.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"145-151"},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460587","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":"Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.","authors":"Sandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, Jonathan Choo, Cristelle Chow, Simon Ling, Yong Hong Ng, Tan Yi Hua, Jing Xian Teo, Khi Pin Chua, Minning Chin, Weng Khong Lim, Saumya Shekhar Jamuar, Angeline Hwei Meeng Lai, Jeannette Lay Kuan Goh","doi":"10.1097/MCD.0000000000000495","DOIUrl":"10.1097/MCD.0000000000000495","url":null,"abstract":"<p><strong>Introduction: </strong>Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.</p><p><strong>Methods: </strong>In this study, we report a case of a patient with CNOT3 -related NDD who presented with progressive aortic dilatation, a feature not reported previously.</p><p><strong>Results: </strong>Our patient presented with intellectual disorder, dysmorphic facial features, and cardiac anomalies, notably progressive aortic dilatation - a novel finding in CNOT3 -related NDD. Genetic testing identified a de novo 6.3 kbp intragenic deletion in CNOT3 , providing a possible genetic basis for her condition.</p><p><strong>Conclusion: </strong>This study presents the first case of CNOT3 -related NDD in Southeast Asia, expanding the phenotype to include progressive aortic dilatation and suggesting merit in cardiac surveillance of patients with CNOT3 -related NDD. It also emphasizes the importance of genetic testing in diagnosing complex NDD cases as well as reanalysis of 'negative' cases using advanced sequencing technologies to uncover potential hidden genetic etiologies in undiagnosed NDDs.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"176-182"},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977118","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":"Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.","authors":"Duygu Çetinkaya, Ayşe Burcu Doğan Ari, Esra Kiliç","doi":"10.1097/MCD.0000000000000504","DOIUrl":"10.1097/MCD.0000000000000504","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"167-170"},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460588","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":"A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy.","authors":"Jennifer Yuen Ying Poon, Myth Tsz Shun Mok, Stephanie Ka Lun Ho, Shirley Sze Wing Cheng, Ivan Fai Man Lo, Ho-Ming Luk","doi":"10.1097/MCD.0000000000000498","DOIUrl":"10.1097/MCD.0000000000000498","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"128-133"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180858","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":"Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.","authors":"Laura Macaskill, Lisa Reali, Swati Naik","doi":"10.1097/MCD.0000000000000482","DOIUrl":"10.1097/MCD.0000000000000482","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"125-127"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974290","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":"Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly.","authors":"Byungsun Yoo, Seungbok Lee","doi":"10.1097/MCD.0000000000000489","DOIUrl":"10.1097/MCD.0000000000000489","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"134-136"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180976","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":"A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported.","authors":"Diogo Fernandes da Rocha, Rita Quental, Ana Grangeia, Carla Pinto Moura","doi":"10.1097/MCD.0000000000000501","DOIUrl":"10.1097/MCD.0000000000000501","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"114-117"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141181000","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":"Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family.","authors":"Himanshu Goel, Sheridan O'Donnell","doi":"10.1097/MCD.0000000000000502","DOIUrl":"10.1097/MCD.0000000000000502","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"121-124"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141181073","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":"A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes.","authors":"Ayberk Türkyılmaz, Emine Ayça Cimbek, Hakan Kardeş, Alper Han Çebi, Elif Acar Arslan, Gülay Karagüzel","doi":"10.1097/MCD.0000000000000499","DOIUrl":"10.1097/MCD.0000000000000499","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"118-120"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180967","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 likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or \"soft\" marker on ultrasonographic scanning.","authors":"Bojana Petrovic, Srboljub Milicevic, Dragisa Sljivancanin, Ljiljana Zdelar Stojanovic, Jelena Stamenkovic, Milka Grk, Marija Dusanovic Pjevic","doi":"10.1097/MCD.0000000000000496","DOIUrl":"10.1097/MCD.0000000000000496","url":null,"abstract":"<p><strong>Objective: </strong>Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and \"soft\" markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal anomalies identified through ultrasound and chromosomal abnormalities.</p><p><strong>Methods: </strong>A cross-sectional study analyzed the karyotype of 1493 fetuses and detected a single ultrasonographic anomaly over a 16-year period. Karyotyping was performed using the standard karyotype technique. Moreover, data regarding the type of anomaly detected ultrasonographically, karyotype results, and outcomes following interventions were collected. Among other methods, the use of positive likelihood ratios (LR+) was used to evaluate the diagnostic accuracy of ultrasound compared to karyotyping.</p><p><strong>Results: </strong>In total, an aberrant karyotype was identified in 99 fetuses (6.6%). This was most commonly observed in cases involving a \"soft\" marker, occurring in 27 out of 218 fetuses (12.4%). The most frequently detected aberrant karyotype resulted from aneuploidies (80.6% of cases), notably trisomy 21 (50.5%). \"Soft\" markers predicted chromosomal issues (LR+ = 1.9; OR = 2.4), and isolated polyhydramnios (LR+ = 1.54; OR = 1.6) showed significance in predicting fetal chromosomal aberrations.</p><p><strong>Conclusion: </strong>When assessing the necessity for karyotyping in fetuses with single major anomalies or \"soft\" markers, it is crucial to consider individual risks for chromosomopathies, including the LR+ of the detected marker. In cases where fetuses exhibit isolated anomalies with a normal karyotype, additional diagnostic measures, such as molecular cytogenetic and molecular genetics techniques, may become necessary.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"137-144"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974289","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}