Ultrasound最新文献

{"title":"Diagnostic value of subcostal liver margin diameter measured by ultrasonography for identifying paediatric hepatomegaly.","authors":"Seyed Majid Raeiszadeh, Anahita Azinfar, Seyed Ali Alamdaran, Amir Behforouz, Masoud Mahdavi Rashed","doi":"10.1177/1742271X261419285","DOIUrl":"https://doi.org/10.1177/1742271X261419285","url":null,"abstract":"<p><strong>Introduction: </strong>Liver size varies with age, sex and body size. Ultrasonography is a widely used modality to evaluate liver size. While craniocaudal diameter diagnoses hepatomegaly, measuring liver diameter below the costal margin in the midclavicular line may offer a simpler alternative. This study evaluated the diagnostic value of subcostal liver margin diameter for identifying hepatomegaly.</p><p><strong>Methods: </strong>In this cross-sectional study, 42 patients with hepatomegaly and 42 healthy individuals under 18 years underwent liver measurements by ultrasonography at two radiology centres. Liver diameter below the costal margin through the midclavicular was obtained, and the statistical analysis using the receiver operating characteristic (ROC) curve analysis was made.</p><p><strong>Results: </strong>Mean subcostal diameter in patients with hepatomegaly was 44.05 ± 12.84 mm and was 11.65 ± 7.89 mm in controls. ROC curve analysis demonstrated a cut-off of 20.5 to 22.5 mm for the diagnosis of hepatomegaly. Considering 2 cm as the cut-off was great for diagnosing hepatomegaly in paediatric patients without considering age.</p><p><strong>Conclusion: </strong>The study demonstrated liver diameter below the costal margin as an alternative method for identifying hepatomegaly in paediatric patients. This simpler, potentially faster measurement approach may serve as a reliable diagnostic tool.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261419285"},"PeriodicalIF":0.7,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13132987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147821334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pilot teaching programme: Point-of-care ultrasound teaching is useful and feasible for newly qualified clinicians.","authors":"Afrose Dor, Mark Z Y Tan, Sahena Haque, Evangelos Boultoukas","doi":"10.1177/1742271X261426079","DOIUrl":"10.1177/1742271X261426079","url":null,"abstract":"<p><strong>Background: </strong>Point-of-care ultrasound (POCUS) has become widespread across many clinical specialties. However, there remains no standardised curriculum for point-of-care ultrasound training in early postgraduate medical education in the United Kingdom. Structured teaching during foundation training may enhance clinical practice and provide core skills relevant to future training. This pilot study aimed to evaluate the feasibility and utility of a structured course for newly qualified doctors.</p><p><strong>Methods: </strong>A 3-session ultrasound curriculum was developed, covering ultrasound physics, machine operation, lung and cardiac imaging, and ultrasound-guided vascular access. Each session included a 30- to 45-minute lecture followed by 75-100 minutes of hands-on practice with facilitators. The course was delivered to FY1s in April-May 2025. Participants completed pre- and post-session questionnaires and multiple-choice assessments.</p><p><strong>Results: </strong>Twenty-six participants attended at least one session. All agreed that early point-of-care ultrasound teaching would benefit clinical practice, including 25% who had little prior interest in POCUS. There was a significant increase in confidence in general point-of-care ultrasound skills (z = 3.11, <i>p</i> = 0.002), lung (z = 3.24, <i>p</i> = 0.001), cardiac (z = 2.71, <i>p</i> = 0.007) and vascular access point-of-care ultrasound (z = 3.13, <i>p</i> = 0.002). Multiple-choice questions test scores also significantly improved across all sessions. Participants did report that one cardiac session was insufficient to gain reasonable confidence.</p><p><strong>Conclusions: </strong>This pilot study supports the feasibility and utility of structured point-of-care ultrasound education for newly qualified doctors. Early point-of-care ultrasound training can provide immediate clinical benefits and support long-term skill development. Integration into the foundation curriculum or local teaching should be considered.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261426079"},"PeriodicalIF":0.7,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13031139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147575314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasound findings and their utility in paediatric mesenteric adenitis: A scoping review.","authors":"Rashed Chowdhury, David McCreary, Cameron Hamilton, Sarah Pirwani","doi":"10.1177/1742271X261421990","DOIUrl":"10.1177/1742271X261421990","url":null,"abstract":"<p><strong>Background: </strong>Mesenteric adenitis is a commonly made diagnosis for children presenting to the Paediatric Emergency Department with acute abdominal pain. Ultrasound is recommended as the first-line imaging modality for children with right-sided abdominal pain owing to its safety and diagnostic value. Unlike appendicitis, however, diagnostic criteria for mesenteric adenitis are not clearly defined.</p><p><strong>Objectives: </strong>To synthesise the literature on ultrasound findings for paediatric mesenteric adenitis, including diagnostic criteria, sonographic appearances and techniques. By undertaking this review, we aimed to identify gaps in the literature to inform future research.</p><p><strong>Methods: </strong>We conducted a scoping review in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews checklist. We searched PubMed, Embase, Scopus and the Cochrane Library for studies involving patients 1-18 years who underwent radiology-performed or point-of-care ultrasound for suspected mesenteric adenitis with findings synthesised thematically.</p><p><strong>Results: </strong>Seventeen studies were included. Only one evaluated point-of-care-ultrasound. Definitions of mesenteric adenitis were heterogeneous in terms of the number of lymph nodes visible and lymph node size. Associated features such as bowel wall thickening, periportal cuffing and systemic signs were reported inconsistently. Advanced modalities including Doppler, superb microvascular imaging and elastography were explored in a minority of studies, while few provided longitudinal follow-up data. Sample sizes were generally small, designs were retrospective, and interobserver reliability was rarely assessed.</p><p><strong>Conclusion: </strong>Ultrasound is widely used for paediatric mesenteric adenitis, but diagnostic criteria lack consensus. Evidence reporting the use of point-of-care ultrasound is minimal. Prospective studies are needed to establish reliable diagnostic criteria and clarify the clinical utility of point-of-care ultrasound in this setting.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261421990"},"PeriodicalIF":0.7,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasound characteristics of medullary thyroid carcinoma and prognostic significance.","authors":"Li Wang, Yuzhe Wang, Xueqing Wei, Xi Wei","doi":"10.1177/1742271X261418671","DOIUrl":"10.1177/1742271X261418671","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the ultrasound characteristics of medullary thyroid carcinoma and their relationship with prognosis.</p><p><strong>Materials and methods: </strong>A retrospective analysis was conducted on 133 medullary thyroid carcinoma nodules, encompassing their ultrasound findings and relevant clinical data. Based on the ultrasound characteristics, medullary thyroid carcinoma nodules were categorised into a benign feature group or malignant feature group, followed by a comparative assessment of disparities in ultrasound features and prognostic indicators between these two groups.</p><p><strong>Results: </strong>Among the 133 medullary thyroid carcinoma nodules analysed, there were 92 cases of malignant feature group (69.2%) and 41 cases of benign feature group (30.8%). The ultrasound characteristics of the benign feature group included well-defined borders (65.9%), hypo echogenicity (87.8%), rich blood flow (48.8%) or abundant blood flow (31.7%), and the absence of calcification (51.2%), or the presence of coarse calcification (36.6%). In contrast, the ultrasound characteristics of the malignant feature group revealed indistinct borders in the majority of cases (96.7%), hypoechogenicity in most cases (82.6%) or very low echogenicity in some cases (16.3%), and relatively rich blood flow in a significant number out of 92 patients (78.3%), with coarse calcification present in 66 cases (71.7%). Compared to the benign feature group, the malignant feature group demonstrated significantly higher rates of lymph node metastasis (69.6% vs 12.2%), distant metastasis (28.3% vs 9.8%), and recurrence (41.3% vs 9.8%). Moreover, the malignant feature group exhibited elevated preoperative calcitonin levels and its ultrasound features were found to be atypical in comparison with the benign feature group. A comprehensive understanding of the ultrasound characteristics of the benign feature group holds substantial clinical significance for diagnosing suspicious cases of medullary thyroid carcinoma. Furthermore, the ultrasound features of medullary thyroid carcinoma can serve as prognostic indicators, with the benign feature group having a more favorable prognosis than the malignant feature group.</p><p><strong>Conclusion: </strong>Medullary thyroid carcinoma demonstrates two distinct sonographic patterns. The benign feature group, often exhibiting benign-appearing features, is associated with a significantly more favorable prognosis than the malignant feature group. Recognising the benign feature group pattern is crucial to avoid misdiagnosis, and preoperative ultrasound features serve as valuable prognostic indicators.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261418671"},"PeriodicalIF":0.7,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Scanning the evidence: A pilot study evaluating the accuracy of sonographer reporting in the Republic of Ireland.","authors":"Jacqueline Tyler, Lorelei Waring, Gareth C Bolton, Paul K Miller","doi":"10.1177/1742271X261425842","DOIUrl":"10.1177/1742271X261425842","url":null,"abstract":"<p><strong>Introduction: </strong>In the Republic of Ireland (ROI), sonographers undertake ultrasound examinations but are limited to providing provisional reports requiring radiologist verification, except in obstetrics. ROI sonographers are educated to the same postgraduate standard as their independently reporting UK counterparts. This study investigates the comparability of sonographer and radiologist reporting throughout ROI.</p><p><strong>Methods: </strong>This clinical audit included sonographers from six ROI hospital groups. Each submitted 400 randomly selected non-obstetric examinations over 6 months. Provisional sonographer reports were reviewed by supporting radiologists and allocated agreement scores based on the Riley 2010 grading system.</p><p><strong>Results: </strong>In total, 6037 examinations were audited of which 99.6% achieved acceptable grades (Grades 1 and 2), 0.35% (21) were Grade 3, and only two requiring upgraded pathology classification. No reports were Grade 4 (unacceptable).</p><p><strong>Conclusion: </strong>This large, multicentre audit demonstrates the accuracy of sonographer reporting in the ROI with an agreement score of over 99%. Given this evidence and the substantial international literature demonstrating that sonographer reporting is both safe and effective, health authorities, regulatory agencies and imaging departments should consider developing systems to allow sonographers to report independently without routine radiologist oversight. This could release radiologists to undertake other duties, reducing waiting lists in both ultrasound and broader radiology.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261425842"},"PeriodicalIF":0.7,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasound imaging of the spinal accessory nerve in the neck.","authors":"Michelle Fenech, Kalnisha Appavoo Juhasz","doi":"10.1177/1742271X261419289","DOIUrl":"10.1177/1742271X261419289","url":null,"abstract":"<p><strong>Introduction: </strong>The spinal accessory nerve is the external terminal division of the 11th cranial nerve which passes postero-inferiorly in the neck, innervating the sternocleidomastoid and trapezius muscles. The spinal accessory nerve is often in the field of view of neck ultrasound imaging, however, can be overlooked and underappreciated during sonographic neck imaging and ultrasound-guided lymph node biopsies.</p><p><strong>Method: </strong>A scoping review of the literature was conducted to assess current knowledge regarding sonographic imaging of the spinal accessory nerve. The authors' sonographic experience and practical sonographic workshops informed the development of a sonographic technique to image this nerve.</p><p><strong>Findings: </strong>Iatrogenic injury is a common cause of spinal accessory neuropathy, particularly from needle biopsies of neck lymph nodes and surgery. Ultrasound imaging can effectively demonstrate the extracranial component of the spinal accessory nerve.</p><p><strong>Discussion: </strong>An appreciation of the anatomy and path of the spinal accessory nerve is important to ensure appropriate sonographic identification of the spinal accessory nerve and ensure it is not in the needle path during ultrasound-guided neck lymph node biopsies. In addition, ultrasound imaging can be used to diagnose spinal accessory nerve injury, pathology and subsequent denervation of the sternocleidomastoid and trapezius muscles which can affect neck and shoulder pain and mobility, negatively impacting daily activities.</p><p><strong>Conclusion: </strong>Awareness of the spinal accessory nerve anatomy and imaging appearances is required when sonographically imaging the neck to identify the spinal accessory nerve, ensuring it is not in the needle path during ultrasound-guided neck biopsies and identifying any potential injury or pathological involvement.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261419289"},"PeriodicalIF":0.7,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12975542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147445365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transoesophageal echocardiography can visualise and evaluate aberrant right subclavian artery stenosis and post-stenting status.","authors":"Yuya Kobayashi, Chinami Yuzawa, Yoshiki Hanaoka, Kenichi Kobayashi, Minori Kurashina, Atsushi Sato, Yoshiki Sekijima","doi":"10.1177/1742271X261425856","DOIUrl":"10.1177/1742271X261425856","url":null,"abstract":"<p><strong>Introduction: </strong>The utility of transoesophageal echocardiography for evaluating stenosis at the origin of the aberrant right subclavian artery has not been previously reported.</p><p><strong>Case report: </strong>An 81-year-old male with recurrent cerebral infarctions associated with stenosis at the aberrant right subclavian artery origin underwent endovascular stenting. For pre-procedural assessment, transoesophageal echocardiography clearly demonstrated an isoechoic to hyperechoic plaque with calcification and a minimal luminal diameter-features that are difficult to assess using computed tomography. Identification of the aberrant right subclavian artery origin required understanding of the surrounding anatomy based on computed tomography imaging, as the lesion was located independently from the left subclavian artery, necessitating technical adjustments during scanning.</p><p><strong>Discussion: </strong>In heavily calcified vessels, computed tomography is limited in its ability to accurately assess stenosis severity because of artefacts caused by calcification, and it cannot characterise plaque morphology. In addition, post-stenting lumen evaluation is often hindered by metal artefacts. In contrast, transoesophageal echocardiography offers real-time imaging, detailed visualisation of plaque characteristics, and reliable confirmation of stent expansion, providing a useful alternative for evaluating and managing aberrant right subclavian artery stenosis. <b>Conclusion</b>: Transoesophageal echocardiography enables precise pre-procedural assessment and post-stenting evaluation.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261425856"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peek A Boo! Peeping through the scar: Amniotic sac and fetal protrusion through a dehiscent uterine wall.","authors":"Harsha Jeswani, Anagha Rajeev Joshi, Latikesh Kishor Bhoir, Rahool Bane, Vaibhav Deore","doi":"10.1177/1742271X261419287","DOIUrl":"10.1177/1742271X261419287","url":null,"abstract":"<p><strong>Introduction: </strong>Lower uterine segment (LUS) dehiscence is a partial disruption of a previous uterine scar in which the myometrium is compromised while the serosa remains intact. It is often detected incidentally during repeat cesarean sections and is rarely recognized in early pregnancy. Although frequently asymptomatic, it carries a significant risk of progression to complete uterine rupture, which involves a full-thickness tear of the uterine wall and is associated with severe maternal and fetal morbidity. Prior cesarean delivery is the most important risk factor.</p><p><strong>Case history: </strong>A 32-year-old gravida 2 para 1 woman with previous cesarean section and gestational hypertension presented at 13 weeks with abdominal pain and vaginal bleeding. Ultrasound at a referring facility showed intrauterine fetal demise for which dilatation and curettage (D&C) was performed. Follow-up ultrasound revealed an amniotic sac-like structure protruding through a 6.6 mm defect at the previous scar, with a macerated fetus partially visible. Emergency laparotomy confirmed partial scar dehiscence with a 2 × 2 cm defect, and fetal parts, placenta, and clots were removed, followed by repair of the uterine defect.</p><p><strong>Discussion: </strong>Uterine scar dehiscence is a rare but serious complication, mostly seen in patients with prior uterine surgery, particularly cesarean deliveries, and often asymptomatic until progression. Weakening of the myometrium can lead to separation while the serosa remains intact. In this case, transvaginal ultrasound identified amniotic sac extrusion through the scar, enabling timely surgical repair to prevent complete rupture and improve maternal-fetal outcomes.</p><p><strong>Conclusion: </strong>This case highlights the importance of ultrasound in early pregnancy for evaluating scar integrity in women with previous cesarean sections. Assessment should extend beyond measuring lower uterine segment thickness to actively identify myometrial discontinuity and herniation of gestational contents. Early recognition enables timely intervention, prevents catastrophic uterine rupture, and improves maternal outcomes.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261419287"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antenatal oral fetus in fetu with a mandibular defect: A case report.","authors":"Shruti Thakur, Anupam Jhobta, Kalpna Negi, Charu Smita Thakur","doi":"10.1177/1742271X261422546","DOIUrl":"10.1177/1742271X261422546","url":null,"abstract":"<p><strong>Introduction: </strong>Fetus in fetu (FIF) is a rare congenital condition defined by the presence of a non-viable, malformed parasitic fetus located within the body of a living autosite host twin, most commonly found in the retroperitoneum. The clinical manifestations of FIF vary with the anatomical site. Timely and accurate diagnosis is crucial to prevent significant morbidity in the host twin resulting from the growth of the FIF mass. Comprehensive clinicopathological data regarding FIF remain limited, as existing literature on the subject is sparse. The majority of reported cases have been diagnosed in infancy and childhood. This report presents a particularly rare case of oral FIF, diagnosed antenatally, wherein the parasitic twin was observed as a mass protruding through a midline mandibular defect of its host twin.</p><p><strong>Case report: </strong>A 20-year-old, G3P1A1, presented for her sonography at 22 weeks gestation. A significant midline mandibular defect was noted in the fetus, with a protruding associated mass emanating into the floor of the mouth. Through a multi-imaging approach, FIF was diagnosed. This case report aims to enhance awareness regarding this uncommon developmental entity.</p><p><strong>Conclusion: </strong>FIF, due to its rarity, can be a difficult case to manage clinically. This case underscores the critical importance of early antenatal sonographic diagnosis, as such identification carries substantial clinical implications and prognostic value.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261422546"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12945731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.","authors":"Tina Ann Varghese, Ishita Agarwal, Akshatha Prabhu, Vartika Mohan, Srishti Chandra, Anita Kaul","doi":"10.1177/1742271X261417137","DOIUrl":"10.1177/1742271X261417137","url":null,"abstract":"<p><strong>Introduction: </strong>Limb body wall complex is a rare polymalformative syndrome which consists of an abdominal and/or thoracic wall defect with an extremely short umbilical cord associated with kyphoscoliosis, intestinal malrotation, and lower limb defects.</p><p><strong>Case report: </strong>A 31-year-old primigravida presented with monochorionic monoamniotic twin pregnancy with discordant anomaly. One fetus had exomphalos, acrania, bilateral talipes, a single umbilical artery, kyphoscoliosis and a short umbilical cord, findings suggestive of limb body wall complex. An ultrasound one week later revealed an unfortunate intrauterine fetal demise of both twins. The postmortem examination confirmed the antenatal diagnosis of limb body wall complex. Since the parents were anxious to avoid any risk of recurrence in subsequent pregnancies, skin samples of both babies were sent for genetic workup. The Chromosomal Micro Array of both fetuses was reported to be normal.</p><p><strong>Discussion: </strong>Different pathophysiologic mechanisms have been proposed to explain the anomalies associated with limb body wall complex. These include early amnion rupture, vascular disruption, and embryonic maldevelopment. Differential diagnosis must be made with isolated gastroschisis, isolated omphalocele, and other polymalformative syndromes such as pentalogy of Cantrell.</p><p><strong>Conclusion: </strong>Early morphological assessment of the fetus at the time of the first-trimester screening scan can be of utmost importance to diagnose a polymalformative syndrome, which may be incompatible with life. An omphalocele, even in the absence of genetic or chromosomal abnormalities, may be associated with a lethal syndrome, that is, limb body wall complex. This should specifically be thought of and searched for, especially in fetuses who present with omphalocele in combination with curvature abnormalities of the spine.</p>","PeriodicalId":23440,"journal":{"name":"Ultrasound","volume":" ","pages":"1742271X261417137"},"PeriodicalIF":0.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12945732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}