Congenital Anomalies最新文献

{"title":"The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia","authors":"Munirah Batarfi,&nbsp;Sultan Alqasim,&nbsp;Ibrahim Alanazie,&nbsp;Ahmed Alkohlani,&nbsp;Abdulrahman Almousa,&nbsp;Fahaad Alsehly,&nbsp;Abdullah Alqurashi,&nbsp;Bader Khawaji,&nbsp;Akeel Alali,&nbsp;Abdulrahman S. Alraddadi","doi":"10.1111/cga.70008","DOIUrl":"https://doi.org/10.1111/cga.70008","url":null,"abstract":"<p>Polydactyly is a congenital anomaly characterized by additional fingers and/or toes, with varying prevalence rates and characteristics across different populations. The current study investigated polydactyly's prevalence and characteristics between January 2015 and December 2022 retrospectively at two tertiary hospitals, one in Riyadh and one in Jeddah, Saudi Arabia. Data on the type and location of polydactyly, together with associated anomalies, were examined. The study identified 176 cases of polydactyly, with the majority (77%) in Riyadh. The average diagnosis was at age 8.9 months; there was a notable male predominance (57%). Over the 8 years examined, the polydactyly prevalence rate among 95 452 Saudi neonates was 97 per 10 000 live births. The occurrence was greater in the upper (49%) than in the lower limbs (33%). Unilateral cases were seen in 47% of hands and 23% of feet, and bilateral cases in 26% of hands and 22% of feet. In addition, the most prevalent form of polydactyly in both hands and feet was postaxial, observed in 34% and 30%, respectively. In contrast, the preaxial type was observed in 15% of hands and 3% of feet. Family history, additional anomalies, and other health conditions were noted in 10%, 45%, and 34% of cases, respectively. The higher occurrence of polydactyly in the hands and its predominant unilateral manifestation, together with its association with familial patterns and specific syndromes, emphasizes the potential interplay between genetic and environmental factors.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741144","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":"Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant","authors":"Yusuke Sasaki,&nbsp;Hiroaki Murakami,&nbsp;Yukiko Kuroda,&nbsp;Yumi Enomoto,&nbsp;Takuya Naruto,&nbsp;Syunsuke Nagara,&nbsp;Toshinari Koyama,&nbsp;Kunihiro Matsunami,&nbsp;Tatsuya Sakashita,&nbsp;Hideo Kaneko,&nbsp;Kyoko Morimoto,&nbsp;Atsushi Imamura,&nbsp;Kenji Kurosawa","doi":"10.1111/cga.70006","DOIUrl":"https://doi.org/10.1111/cga.70006","url":null,"abstract":"<p>Heterozygous loss-of-function variants in heterogeneous nuclear ribonucleoprotein U <i>(HNRNPU)</i> cause early-onset developmental and epileptic encephalopathy with multiple congenital anomalies. Limited clinical information is currently available on <i>HNRNPU-</i>related neurodevelopmental disorder. The patient was a 1-year-old Japanese girl with developmental delay, hypotonia, early-onset epilepsy, respiratory distress, and distinctive facial features, including ptosis, epicanthus, a prominent nasal bridge, a wide nasal floor, a cleft soft palate, and micrognathia. Respiratory distress was caused by pharyngeal stenosis and laryngomalacia, which gradually worsened, necessitating a scheduled tracheostomy at 1 year and 7 months of age. We performed whole-exome sequencing and identified a novel de novo nonsense variant in <i>HNRNPU</i>. We herein describe the first case of <i>HNRNPU-</i>related neurodevelopmental disorder with severe airway anomalies and a novel nonsense variant, thereby expanding the phenotypic spectrum</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439193","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":"Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice","authors":"Anar-Erdene Gantugs,&nbsp;Teruyuki Niimi,&nbsp;Makoto Inoue,&nbsp;Ichinnorov Chimedtseren,&nbsp;Chisato Sakuma,&nbsp;Nagana Natsume,&nbsp;Ken Kitagawa,&nbsp;Masaaki Ito,&nbsp;Ajnai Luvsan-Ish,&nbsp;Hideto Imura,&nbsp;Hiroo Furukawa,&nbsp;Nagato Natsume","doi":"10.1111/cga.70005","DOIUrl":"10.1111/cga.70005","url":null,"abstract":"<p>Pregnancy loss is a significant concern worldwide, encompassing miscarriage and stillbirth. Miscarriage, defined as the loss of a baby before 28 weeks of gestation, accounts for approximately 15% of pregnancies. Stillbirth, occurring at or after 28 weeks of gestation, affects nearly 2.0 million pregnancies annually, predominantly in low- and middle-income regions. This study aims to investigate the potential of Anemarrhena rhizome (AR) herbal medicine in mitigating pregnancy loss and reducing the incidence of cleft palate in A/J mice models. A total of 390 6-week-old A/J mice were used for the study. Three different dosages of dried AR (6, 12, and 18 g) were boiled to prepare water extracts. The mice were divided into experimental groups receiving these extracts and a control group. Pregnancy outcomes, including fetal mortality rates and incidence of cleft palate, were assessed. The experimental groups receiving AR herbal medicine demonstrated significantly lower fetal mortality rates compared to the control group. Additionally, the incidence of cleft palate was notably reduced in the experimental groups, with the AR 6 g and AR 12 g groups showing significant reductions compared to the control group. AR herbal medicine shows promise in mitigating pregnancy loss and reducing the incidence of cleft palate in A/J mice models. These findings suggest the potential of AR as a therapeutic agent for improving fetal health outcomes. Further research is warranted to elucidate the underlying mechanisms and optimize dosage strategies for maximizing its therapeutic benefits in pregnancy-related complications.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034387","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":"Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia","authors":"Tomonori Sunakawa,&nbsp;Sota Iwatani,&nbsp;Seiji Yoshimoto","doi":"10.1111/cga.70003","DOIUrl":"10.1111/cga.70003","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142960277","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":"An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination","authors":"Ioanna Abba Deka,&nbsp;Paschalis Theotokis,&nbsp;Maria Eleni Manthou,&nbsp;Angeliki Mathioudi,&nbsp;Evangelia Athanasiou,&nbsp;Soultana Meditskou","doi":"10.1111/cga.70004","DOIUrl":"10.1111/cga.70004","url":null,"abstract":"<p>The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels. Immunohistochemical analysis was conducted using specific markers, such as S100, CD34, CD117, glycophorin-C, and myeloperoxidase, to identify various hematopoietic and mesenchymal cell types. Furthermore, this report underscores the often-overlooked aspect of fetal hematopoiesis in cases diagnosed with TD-1, shedding light on the development of hematopoietic cells and their markers in various tissues, with a particular emphasis on the investigation of bone marrow foci in areas with incipient or no apparent ossification. Immunohistochemical identification of hematopoiesis also served as an indirect way to identify areas of incipient or abnormal ossification.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11710925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985630","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":"Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review","authors":"Miki Tanoshima,&nbsp;Reo Tanoshima,&nbsp;Hajime Takase,&nbsp;Daisuke Yamamoto,&nbsp;Shigeru Aoki,&nbsp;Hideya Sakakibara,&nbsp;Etsuko Miyagi","doi":"10.1111/cga.70002","DOIUrl":"10.1111/cga.70002","url":null,"abstract":"<p>Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non-mosaic X chromosome structural rearrangements. A systematic literature search was conducted using Medline and Embase classics plus Embase between 1947 and September 2023. A total of 487 Turner women with non-mosaic X chromosome structural rearrangements were included from the 69 studies. The prevalence of short stature was 72.4% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 80.1% in the short arm deletion group (del (Xp)), 75% in the del(X)(p22.3) group, 65.8% in the del(X)(p21) and del(X)(p22) group, and 37.5% (20%–66.7%) in the long arm deletion group (del(Xq)). The prevalence of ovarian dysfunction was 78.8% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 72.5% in the del (Xp) group, 27.6% in the del (X)(p22.3) group, 33.3% in the del (X)(p21) and del(X)(p22) group, and 94.6% in the del (Xq) group. The recognition of X chromosome breakpoints is useful in the management of Turner syndrome complications, since some phenotypes are unique depending on the deletion region. Ovarian dysfunction is significantly related to karyotype, so the identification of karyotypes in Turner syndrome is important for managing ovarian dysfunction and predicting future fertility.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916424","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":"Risk factors for isolated congenital heart defects in infants from Western Mexico","authors":"Jessica Paola Cruz-Cruz,&nbsp;Rafael Nieto-García,&nbsp;Pascuala Berenice Rivera-Ramírez,&nbsp;Christian Peña-Padilla,&nbsp;Lucina Bobadilla-Morales,&nbsp;Alfredo Corona-Rivera,&nbsp;Víctor Ulises Rodríguez-Machuca,&nbsp;Sandra Rocio Valdez-Muñoz,&nbsp;Jorge Román Corona-Rivera","doi":"10.1111/cga.12589","DOIUrl":"10.1111/cga.12589","url":null,"abstract":"<p>Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case–control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009–2023 at the Hospital Civil de Guadalajara “Dr. Juan I. Menchaca” (Guadalajara, Mexico). Potential parental risk factors for CHDs were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. Consanguinity [adjusted odds ratio (aOR) = 3.3; 95% confidence interval (CI) 1.3–8.5], relatives with CHD (aOR = 8.5; 95% CI 5.3–13.8), maternal first-trimester exposure to diabetes (aOR = 3.5; 95% CI 2.4–5.1), hypertension (aOR = 2.6; 95% CI 1.5–4.4), alcohol consumption (aOR = 1.5; 95% CI 1.0–2.1), and illicit drug use (aOR = 2.4; 95% CI 1.2–5.3), as well as for the paternal history of alcohol consumption (aOR = 1.4; 95% CI 1.0–1.8) and illicit drug use (aOR = 2.7; 95% CI 1.7–4.1), were associated with CHDs. Contrarily, aOR for maternal age ≤19 years (aOR = 0.6; 95% CI 0.4–0.8) and maternal first-trimester coffee consumption (aOR = 0.7; 95% CI 0.5–0.9) have protective odds. Our results suggest that genetic factors, maternal diseases, environmental exposures, and reproductive factors can increase the occurrence of isolated CHDs in our sample, and they are discussed as clues in its pathogenesis.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901228","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 role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development","authors":"Rika Takeuchi,&nbsp;Masaki Takechi,&nbsp;Worachat Namangkalakul,&nbsp;Youichirou Ninomiya,&nbsp;Toshiko Furutera,&nbsp;Kazushi Aoto,&nbsp;Daisuke Koyabu,&nbsp;Noritaka Adachi,&nbsp;Katsuhiko Hayashi,&nbsp;Masataka Okabe,&nbsp;Sachiko Iseki","doi":"10.1111/cga.70001","DOIUrl":"10.1111/cga.70001","url":null,"abstract":"<p><i>Sonic hedgehog</i> (<i>Shh</i>) is expressed in the oropharyngeal epithelium, including the frontonasal ectodermal zone (FEZ), which is defined as the boundary between <i>Shh</i> and <i>Fgf8</i> expression domains in the frontonasal epithelium. To investigate the role of SHH signaling from the oropharyngeal epithelium, we generated mice in which <i>Shh</i> expression is specifically deleted in the oropharyngeal epithelium (<i>Isl1-Cre; Shh</i>^<i>f/f</i>). In the mutant mouse, <i>Shh</i> expression was excised in the oropharyngeal epithelium as well as FEZ and ventral forebrain, consistent with the expression pattern of <i>Isl1</i>. <i>Isl1-Cre; Shh</i>^<i>f/f</i> mice exhibited a complete loss of lower jaw components and a malformed upper jaw with defects in the cranial base and secondary palate. Massive cell death was observed in the mandibular process at embryonic day (E) 9.5 and E10.5, while mild cell death was observed in the lambdoidal region (the fusion area in the maxillary, lateral nasal, and medial nasal processes) at E10.5. An RNA-seq analysis revealed that <i>Satb2</i>, a gene involved in cell survival during jaw formation, was downregulated in the lambdoidal region in <i>Isl1-Cre; Shh</i>^<i>f/f</i> mice. These results suggest that <i>Shh</i> expression in the FEZ is required for cell survival and skeletogenesis in the lambdoidal region during the development of the upper jaw and that the developmental control governed by SHH signaling is different between upper and lower jaws.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901229","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":"Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene","authors":"Machiko Kataoka,&nbsp;Yukiko Kuroda,&nbsp;Hiroyuki Tanaka,&nbsp;Ayami Sato,&nbsp;Motohiro Kato","doi":"10.1111/cga.70000","DOIUrl":"10.1111/cga.70000","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878903","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":"Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome","authors":"Yu Yamaguchi,&nbsp;Hironobu Okuno,&nbsp;Suzumi Tokuoka,&nbsp;Yoshihiro Kita,&nbsp;Tsukasa Sanosaka,&nbsp;Jun Kohyama,&nbsp;Kenji Kurosawa,&nbsp;Norio Sakai,&nbsp;Fuyuki Miya,&nbsp;Takao Takahashi,&nbsp;Kenjiro Kosaki,&nbsp;Hideyuki Okano","doi":"10.1111/cga.12587","DOIUrl":"https://doi.org/10.1111/cga.12587","url":null,"abstract":"<p>Sjögren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the <i>ALDH3A2</i> gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic reactions involved in fatty aldehyde oxidation. Only a few studies have been performed to determine the lipid profile of patients with SLS. In a previous postmortem study of the brain of a 65-year-old patient with SLS, lipidomic analysis revealed an accumulation of long-chain unsaturated ether lipid species in the white matter and gray matter. In the present study, we established a disease model using patient-derived neuronal and oligodendrocyte lineage cells to analyze the lipid metabolism and gene expression profiles in SLS. To achieve this, we generated induced pluripotent stem cells (iPSCs) from two patients with the SLS phenotype carrying previously known <i>ALDH3A2</i> pathogenic variants: One was a compound heterozygote (c.1339A&gt;G:p.(Lys447Glu) and c.57_132dup:p.(Ile45Serfs*34)) and the other was a homozygote (c.1339A&gt;G: p.(Lys447Glu)). The FALDH activity was almost zero in the SLS-iPSC lines established from both patients. Phospholipid analysis of neurospheres, and oligospheres (spheres enriched with oligodendrocyte-lineage cells) derived from the iPSCs by liquid chromatography-mass spectrometry showed accumulation of ether phospholipids in the Sjögren-Larsson patient-derived neurospheres and oligospheres. The results are consistent with the previously reported accumulation of ether lipids in the postmortem brain tissue of an SLS patient. Therefore, iPSCs and iPSC-derived neurospheres and oligospheres established from SLS patients can be useful tools for future pathological analysis of the central nervous system pathophysiology in SLS.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12587","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142762304","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}