Congenital Anomalies最新文献

{"title":"Correction to: “Patterns of Primary and Secondary Defects Associated With Non-Syndromic Cleft Lip and Palate: An Epidemiological Analysis in a Kenyan Population”","authors":"","doi":"10.1111/cga.70021","DOIUrl":"https://doi.org/10.1111/cga.70021","url":null,"abstract":"<p>M. Kamau, K. Sarna, S. Guthua, K. J. Sonigra, and P. Kimani, “Patterns of Primary and Secondary Defects Associated With Non-Syndromic Cleft Lip and Palate: An Epidemiological Analysis in a Kenyan Population,” <i>Congenital Anomalies</i> 64, no. 3 (2024): 134–142, https://doi.org/10.1111/cga.12564.</p><p>The caption of figure 1, “The model used for classification of primary cleft lip and palate deformities defects composed of 16 codes that each represents a particular region. Adopted from Nagase et al.¹⁰” was incorrect. This should have read as follows: The model used for classification of primary cleft lip and palate deformities defects composed of 16 codes that each represents a particular region. Adapted with permission from Nagase et al.¹⁰</p><p><b>Permission to reproduce material from other sources</b>: The authors confirm that permission has been obtained to reproduce/modify figures 1 and 3–5 in this manuscript from figure 1 published by Nagase et al.¹⁰</p><p>We apologize for this error.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144782260","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":"Non-Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8","authors":"Eugen-Matthias Strehle,&nbsp;Alison Redshaw,&nbsp;Noor Alhashimi,&nbsp;Pallavi Chealikani,&nbsp;Nira Flanighan,&nbsp;Ahmed Etman,&nbsp;Benjamin Simpson,&nbsp;Brian Wilson,&nbsp;Corina Moldovan","doi":"10.1111/cga.70020","DOIUrl":"https://doi.org/10.1111/cga.70020","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144725548","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":"Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer","authors":"Mamiko Yamada,&nbsp;Daisuke Watanabe,&nbsp;Fuyuki Miya,&nbsp;Hideki Shiramizu,&nbsp;Masanori Inoue,&nbsp;Hiroki Kabata,&nbsp;Nobuhiro Nakamoto,&nbsp;Takahiro Hiraide,&nbsp;Takenori Akiyama,&nbsp;Kenjiro Kosaki","doi":"10.1111/cga.70019","DOIUrl":"https://doi.org/10.1111/cga.70019","url":null,"abstract":"<p>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by excessive and frequent epistaxis, telangiectasia, and visceral involvement, with a strong positive family history. The genes responsible for HHT are endoglin (<i>ENG</i>), activin A receptor-like kinase 1 (<i>ACVRL1</i> or <i>ALK-1</i>), and <i>SMAD4</i> are known. As opposed to epistaxis and telangiectasia, whether or not the disease is prone to any visceral lesions depends on the causative gene. Arteriovenous malformations (AVMs) of the brain and lung are common in <i>ENG</i>, hepatic AVMs and cutaneous telangiectasia are common in <i>ACVRL1</i>, and juvenile polyposis (JP-HHT) is characteristic in <i>SMAD4</i>. Therefore, the diagnosis of HHT and its subclasses in patients with recurrent epistaxis is clinically important for predicting cerebral and visceral complications and for prophylactic medical or surgical treatment. Genomic techniques for the molecular diagnosis of HHT have advanced remarkably in recent years. Long-read sequencing using nanopore technology is now recognized as a new and effective approach for the detection of structural aberrations, such as large deletions, that cannot be detected by conventional short-read analysis. In particular, a new technique called adaptive long-read sequencing can selectively sequence only pre-defined target regions. Here we report two patients with HHT in whom no variants were found by short-read targeted sequencing, but structural variants were detected by adaptive nanopore sequencing. These molecular diagnostic results were used in their clinical management.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70019","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144647600","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":"Refractory congenital chylous ascites—Case report of a successful surgical management","authors":"Inês Araújo Oliveira,&nbsp;Luís Salazar,&nbsp;Catarina Carvalho,&nbsp;Luísa Neiva,&nbsp;Elisa Proença,&nbsp;Fátima Carvalho,&nbsp;Helena Ferreira Mansilha","doi":"10.1111/cga.70017","DOIUrl":"https://doi.org/10.1111/cga.70017","url":null,"abstract":"<p>Congenital chylous ascites (CCA) is a rare condition caused by maldevelopment of the intra-abdominal lymphatic system, resulting in chyle accumulation in the peritoneal cavity. Diagnosis involves analyzing milky-white ascitic fluid with elevated triglycerides and T-lymphocyte predominance, with lymphangiography or lymphoscintigraphy as the gold standard. Initial treatment focuses on nutrition and medical therapies like medium-chain triglycerides (MCT) and total parenteral nutrition (TPN). Surgery is considered if conservative measures fail. A neonate with CCA required TPN, MCT formula, octreotide, and paracentesis. Lymphoscintigraphy showed bilateral lymphatic leakage. Despite medical management, the condition remained refractory, and exploratory surgery was performed, revealing a mesothelial cyst and peritoneal defect, which was treated with fibrin glue. Post-surgery, the infant's ascites resolved, highlighting the need for surgery in refractory cases.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144606514","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":"Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus","authors":"Huriye Ezveci,&nbsp;Şükran Doğru,&nbsp;Fikriye Karanfil Yaman","doi":"10.1111/cga.70018","DOIUrl":"https://doi.org/10.1111/cga.70018","url":null,"abstract":"<p>This study examined the impact of blood glucose-regulated gestational diabetes (GDM) on fetal pulmonary artery Doppler parameters. This prospective case–control study was performed at a tertiary university hospital. The study cohort comprised GDM patients with controlled blood glucose levels and a healthy control group. Acceleration time/ejection time (At/Et) of the main pulmonary artery, right pulmonary artery, and left pulmonary artery Doppler parameters were assessed and contrasted between the two groups. The study comprised 90 patients, with 30 in the gestational diabetes mellitus group focused on blood sugar regulation and 60 in the healthy control group. No statistically significant difference was observed between the two groups regarding the common main pulmonary artery At/Et (<i>p</i> = 0.465), right pulmonary artery At/Et (<i>p</i> = 0.237), and left pulmonary artery At/Et (<i>p</i> = 0.283). No statistically significant difference was noted between the two groups regarding APGAR scores and blood gas parameters of the newborns (<i>p</i> &lt; 0.05). No statistically significant difference was observed in fetal pulmonary artery Doppler parameters (<i>p</i> &lt; 0.05) when gestational diabetes mellitus cases were classified based on the utilization of diet and insulin for blood sugar regulation. The pulmonary artery Doppler parameters in fetuses of pregnant women with gestational diabetes mellitus and controlled blood sugar levels are comparable to those of healthy controls. Moreover, dietary habits and insulin administration for glycemic control did not alter pulmonary artery Doppler metrics. The findings suggest that well-managed gestational diabetes mellitus, irrespective of the treatment modality, do not substantially influence the fetal pulmonary artery dynamics.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589918","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":"Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives","authors":"Natsuko Utsunomiya,&nbsp;Motoki Katsube,&nbsp;Masanori Kumakiri,&nbsp;Naoki Morimoto,&nbsp;Shigehito Yamada","doi":"10.1111/cga.70015","DOIUrl":"https://doi.org/10.1111/cga.70015","url":null,"abstract":"<p>The cranial base (CB) and facial skeleton, despite differing in function and origin, are developmentally related. However, the mechanisms underlying the structural connection remain poorly understood. This article reviews CB malformations in congenital facial anomalies to identify the morphological basis for the relationship between these regions. Various types of CB deformities were identified in each facial anomaly; however, even anomalies with similar facial features did not necessarily share the same CB deformity, indicating that the underlying mechanisms exhibit complex interactions. To elucidate the biological processes related to these morphological interactions, detailed craniofacial geometry should be analyzed while retaining as much quantitative shape information as possible. Geometric morphometrics (GM) is an effective method for craniofacial studies because it analyzes shapes using landmark coordinates to retain relative geometric information, and it can be applied to complex shapes, such as curvatures or processes. Therefore, the application of GM in previous craniofacial studies is also reviewed. Quantitative data on normal and abnormal craniofacial development, encompassing both the prenatal and postnatal periods from GM studies, may provide valuable insight into the pathogenesis of congenital craniofacial anomalies.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144582138","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":"Cervical vertebrae fusion in elbow knee synostosis (Eks)-mutant mice with fibroblast growth factor 9 N143T mutation","authors":"Georgina Djameh,&nbsp;Masayo Harada,&nbsp;Keiichi Akita","doi":"10.1111/cga.70016","DOIUrl":"https://doi.org/10.1111/cga.70016","url":null,"abstract":"<p>Proper vertebral column development requires precise segmentation and regulated chondrogenesis during embryogenesis. Mutations affecting fibroblast growth factor 9 (FGF9) signaling disrupt these processes, resulting in abnormal vertebral column development. A missense mutation in FGF9 (p.Asn143Thr) produces <i>elbow knee synostosis</i> (<i>Eks</i>)-mutant mice, which display skeletal fusions, including those in the vertebral column, underscoring the essential role of FGF9 in vertebral segmentation and vertebral joint development. However, the mechanisms regulating joint formation in vertebrae remain elusive. Here, we report that the homozygous <i>Eks</i> mutant mice exhibit neural arch lamina fusion along the rostrocaudal axis at the dorsolateral position in neonates. We investigated the cellular and molecular mechanisms underlying the cervical vertebral fusion in <i>Fgf9</i>^{<i>Eks/Eks</i>} embryos. <i>Fgf9</i>^{<i>Eks/Eks</i>} embryos showed multiple fusions and thickened cartilage of cervical lamina on embryonic day (E) 14.5 and E13.5. Additionally, <i>Fgf9</i>^{<i>Eks/Eks</i>} embryos exhibited COL2A1 expression domain expansion accompanied by ectopic chondrocyte accumulation in the presumptive interlaminar space on E12.5 and E11.5. These anomalies persisted through endochondral ossification, leading to postnatal cervical vertebral bone fusion. Ectopic expression of COL2A1, Cyclin D1, and fibroblast growth factor (FGF) signaling target ETV4 was observed in the presumptive interlaminar space, indicating altered cell proliferation and cell fate specification. These findings demonstrate that FGF9^<i>Eks</i> protein interferes with vertebral column segmentation by impairing chondrogenic boundary regulation through ectopic cell proliferation and transcriptional activity. In conclusion, ectopic FGF9 signaling leads to cervical vertebral fusion, highlighting its contributing role in maintaining vertebral segmentation and chondrogenesis during embryogenesis.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144524563","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":"Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review","authors":"Kaori Yamoto,&nbsp;Sachiko Miyamoto,&nbsp;Kosuke Yamada,&nbsp;Mitsuko Nakashima,&nbsp;Kenji Shimizu,&nbsp;Hirotomo Saitsu","doi":"10.1111/cga.70014","DOIUrl":"https://doi.org/10.1111/cga.70014","url":null,"abstract":"<p><i>ZNF335</i> plays an essential role in the neurogenesis of the human brain, and pathogenic variants of <i>ZNF335</i> are associated with primary or secondary (postnatal) microcephaly. We performed exome sequencing in a patient with secondary microcephaly, epilepsy, global developmental delay, and dysmorphic craniofacial features, and identified compound heterozygous missense and intronic variants in <i>ZNF335</i> (NM_022095.4:c.1504T&gt;G, p.(Tyr502Asp) and c.1665 + 6T&gt;A). Using a minigene assay, we demonstrated that the intronic variant causes aberrant splicing, resulting in significantly reduced ZNF335 protein levels. In addition, a review of the clinical findings of previously reported 10 patients with <i>ZNF335</i> variants revealed that microcephaly was present in all patients, about half of them were secondary, and epilepsy and severe developmental delay were also quite recurrent findings.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144514905","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":"Questionnaire survey of patient families and dental school students regarding non-syndromic cleft lip and/or palate in the Federal Democratic Republic of Ethiopia","authors":"Anar-Erdene Gantugs,&nbsp;Hiroo Furukawa,&nbsp;Ichinnorov Chimedtseren,&nbsp;Le Kha Anh,&nbsp;Maya Yoshida,&nbsp;Kayo Hayami,&nbsp;Nagana Natsume,&nbsp;Fuko Yamauchi,&nbsp;Toshiro Kibe,&nbsp;Naoki Takahashi,&nbsp;Hideto Imura,&nbsp;Teruyuki Niimi,&nbsp;Nagato Natsume","doi":"10.1111/cga.70012","DOIUrl":"https://doi.org/10.1111/cga.70012","url":null,"abstract":"<p>Non-syndromic cleft lip and/or palate (NCL/P) is a congenital craniofacial anomaly with significant psychosocial and economic impacts. In Ethiopia, the prevalence of NCL/P and access to specialized care are not well documented. This study aimed to evaluate the knowledge and awareness of NCL/P among families of affected children and dental school students in Ethiopia and explore their perceptions and attitudes toward NCL/P. From 2009 to 2018, we conducted questionnaire surveys involving 86 patients with NCL/P and their families in the towns of Addis Ababa and Butajira, including 161 students from the School of Dentistry, Addis Ababa University. The surveys assessed the knowledge, perceptions, and attitudes toward NCL/P and their social implications. The majority of patients with NCL/P were born at home and in low-income families. Concerns about the future social life of patients were prominent, with stigma and discrimination reported by 32% of the patients' families. Among the dental school students, 66% had some knowledge of NCL/P, primarily from media sources. Students perceived higher levels of societal blame towards mothers of patients with NCL/P than reported by the patients' families. This study revealed significant gaps in the knowledge and awareness regarding NCL/P among dental school students. It also revealed the substantial social stigma that the patients affected by NCL/P and their families faced in Ethiopia. Enhancing public education and providing comprehensive multidisciplinary care is crucial for improving the quality of life of patients with NCL/P in Ethiopia.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144292563","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":"Radiation-induced congenital malformations in Fukushima after the Fukushima Daiichi Nuclear Disaster","authors":"Shinya Kondo,&nbsp;Toshiyuki Itai,&nbsp;Chika Akamatsu,&nbsp;Shin Saitoh,&nbsp;Akiko Iwata,&nbsp;Haruka Hamanoue,&nbsp;Fumiki Hirahara,&nbsp;Isamu Ishiwata,&nbsp;Satoru Shinoda,&nbsp;Etsuko Miyagi,&nbsp;Kentaro Kurasawa","doi":"10.1111/cga.70013","DOIUrl":"https://doi.org/10.1111/cga.70013","url":null,"abstract":"<p>The Fukushima Daiichi Nuclear Disaster (FDND) occurred in 2011, which occurred after the Great East Japan Earthquake. However, how the incidence of radiation-induced malformations in Fukushima has been affected by FDND remains to be elucidated. To address this, we analyzed birth data from Fukushima and other areas in Japan from the International Clearinghouse for Birth Defects Surveillance and Research Japan Center, including information on birth defects between January 2010 and December 2022. Among the registered birth defects, microcephaly, microphthalmia, and neural tube defects were classified as radiation-induced malformations. Our study included 90 433 births in Fukushima, accounting for 52.6% of all births. Among these, birth defects were observed in 1376 (1.52%) births, of which 28 (0.031%) were diagnosed with radiation-induced malformations. With regard to other areas in Japan, 1 323 391 births, which accounted for 10.9% of all births, were registered; births with birth defects and radiation-induced malformations were observed in 37 490 (3.67%) and 889 (0.067%), respectively. Because sampling bias was suspected, we compared the rates of radiation-induced malformations in Fukushima and other areas in Japan by adjusting the incidence in Fukushima with the incidences of ventricular septal defects in both areas. However, there was no statistically significant difference between them. Our results, which covered the largest number of births in Fukushima, did not find a significant increase in the incidence of radiation-induced malformations in Fukushima since FDND.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.70013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144244907","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}