World journal of clinical pediatrics最新文献

{"title":"Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.","authors":"Anastasia O Vechkasova, Ekaterina Yu Zakharova, Natalia V Buchinskaya, Nato D Vashakmadze, Leyla S Namazova-Baranova, Dmitry O Ivanov, Sergei I Kutsev, Mikhail M Kostik","doi":"10.5409/wjcp.v14.i4.110003","DOIUrl":"10.5409/wjcp.v14.i4.110003","url":null,"abstract":"<p><strong>Background: </strong>Mucopolysaccharidosis type VI (MPS VI) is a chronic, progressive, inherited disease with multiorgan involvement and a restricted life expectancy.</p><p><strong>Aim: </strong>To investigate the epidemiological, clinical, and genetic characteristics of patients with mucopolysaccharidosis type 6 and their outcomes using the Russian Federation's national registry, as per the Russian registry, and compare them with previously published data.</p><p><strong>Methods: </strong>In a retrospective cohort study, clinical, laboratory data, molecular genetic analysis results, and enzyme replacement therapy (ERT) data were extracted and analyzed from the Russian MPS VI registry for 53 patients, comprising 26 males (49.1%) and 27 females (50.9%).</p><p><strong>Results: </strong>The median age of first symptoms was 2 years, ranging from the first months of life to 20 years. A positive family history of MPS VI was reported in 19/53 (35.8%) patients, a negative family history in 24 (45.3%), and missing information in 10 (18.9%). The main features of the disease were hepatomegaly (<i>n</i> = 23; 60.5%), splenomegaly (<i>n</i> = 15, 39.5%), involvement of otolaryngological organs (<i>n</i> = 24/33; 72.7%), umbilical and inguinal hernia (<i>n</i> = 19/36; 52.8%), heart involvement (<i>n</i> = 26/32; 81.3%) with valve involvement (<i>n</i> = 25/26; 96.2%) and linear growth delay (<i>n</i> = 30/39, 76.9%). Two patients (3.8%) died. The most common variants identified in the <i>ARSB</i> gene were c.454C>T and c.194C>T. At the time of data collection, ERT had ever received 48/53 (90.5%) patients.</p><p><strong>Conclusion: </strong>No correlation was observed between the age of onset of the first symptoms, the severity of clinical manifestations, enzyme activity, or nucleotide variants in the <i>ARSB</i> gene.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"110003"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552157","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":"Giant coronary aneurysms in children with Kawasaki disease and major cardiac complications and dynamic follow-up.","authors":"Liudmila V Bregel, Olesya S Efremova, Vladimir A Podkamenny, Yurii A Kozlov, Mikhail M Kostik","doi":"10.5409/wjcp.v14.i4.108920","DOIUrl":"10.5409/wjcp.v14.i4.108920","url":null,"abstract":"<p><strong>Background: </strong>Giant coronary artery aneurysms (CAA), entailing thrombosis, myocardial infarction, and sudden death, are the most severe and life-threatening complications of Kawasaki disease (KD). Giant aneurysms rarely regress and can later transform into stenoses. Data on dynamic follow-up are scarce in the literature.</p><p><strong>Aim: </strong>To evaluate clinical features and long-term outcomes of giant CAA in children with KD.</p><p><strong>Methods: </strong>A single-center retrospective study included data from patients with KD and giant CAA in the Irkutsk region (2012-2023). CAA criteria according to the American Heart Association guidelines of 2017 were used: (1) Dilated coronary artery with diameter <i>Z</i>-score > 2 standard deviations (SD) but < 2.5 SD; (2) Small CAA with <i>Z</i>-score > 2.5 SD but < 5 SD; (3) Medium CAA with <i>Z</i>-score > 5 SD but < 10 SD; and (4) Giant CAA with <i>Z</i>-score > 10 SD or ≥ 8 mm.</p><p><strong>Results: </strong>The mean age of children with coronary dilatation/aneurysms was 2.5 years, and the male-to-female ratio was 3:1. Patients with giant/medium CAA had symptoms of cerebral dysfunction more often compared with children with moderate (<i>Z</i>-score < 5 SD but > 2.0 SD) coronary dilatation (62.0% <i>vs</i> 21.0%, <i>P</i> = 0.019). Major cardiovascular events (myocardial infarction, coronary artery bypass grafting, acute coronary syndrome, ischemic cardiomyopathy, left ventricular aneurysm, and giant extracardiac aneurysm) occurred in 55.5% of patients who had giant CAA. At follow-up the complete regression of giant/medium CAA was observed in 58.0% and partial regression in 42.0% after a mean of 2.3 and 5.5 years, respectively. All thrombi detected by echocardiography, CT, and angiography in giant/medium CAA disappeared between 1 year and 5 years (mean: 15 months). All patients survived.</p><p><strong>Conclusion: </strong>Risk factors for giant CAA were male sex, early age, and cerebral dysfunction. Complete regression of giant coronary aneurysms occurred in 58.0% of patients after follow-up of 2.3 years.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"108920"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145551998","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":"Efficacy and palatability of the developed polyethylene glycol-based formula for the treatment of children with functional constipation.","authors":"Duc Long Tran, Palittiya Sintusek","doi":"10.5409/wjcp.v14.i4.108854","DOIUrl":"10.5409/wjcp.v14.i4.108854","url":null,"abstract":"<p><strong>Background: </strong>Excipients may improve the palatability of polyethylene glycol (PEG), the first-line treatment for childhood functional constipation (FC), leading to good compliance and improved treatment outcomes.</p><p><strong>Aim: </strong>To compare the developed PEG-based formula (PEG-Chula) to the commercial formula for treating childhood FC.</p><p><strong>Methods: </strong>In this randomized controlled trial, we enrolled children aged < 18 years with FC diagnosed by the Rome IV criteria to receive PEG-Chula [four flavors: (1) Strawberry; (2) Lychee; (3) Apple; and (4) Lychee-rose] or Forlax (orange-grapefruit flavor) for eight weeks. The primary outcomes included changes in stool frequency and consistency measured by the Bristol Stool scale. The secondary outcomes were constipation-related symptom improvement, adverse events, and palatability measured by the facial hedonic scale.</p><p><strong>Results: </strong>Fifty-two children diagnosed with FC [median age: 4.21 (2.33, 7.88) years; 35 (67.31%) females] were enrolled. After the 8-week treatment, the mean weekly stool frequency increased in both groups, the mean change was 4.02 (95%CI: 3.09-4.95) in PEG-Chula and 3.78 (95%CI: 2.79-4.78) in commercial PEG compared to baseline (<i>P</i> < 0.001). The extent of stool consistency improvement did not differ significantly. The most preferred PEG-Chula flavor was rated more palatable than the commercial PEG. Treatment compliance correlated with medication palatability (<i>r</i> = 0.34, <i>P</i> = 0.013). No significant differences in adverse events were found.</p><p><strong>Conclusion: </strong>Both PEG-based formulas are effective and safe for managing pediatric FC.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"108854"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12624231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558103","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":"Monogenic inflammatory bowel disease: An unfolding enigma.","authors":"Upasana Ghosh, Arghya Samanta","doi":"10.5409/wjcp.v14.i3.107165","DOIUrl":"10.5409/wjcp.v14.i3.107165","url":null,"abstract":"<p><p>Inflammatory bowel disease (IBD) is a group of chronic disorders that cause relapsing inflammation in the gastrointestinal tract (GIT). It results either from gene-environment interactions or as a monogenic disease resulting from pathogenic mutations causing impairment in the protective mechanism of the GIT. Around 10%-15% of patients with very early onset IBDs may have an underlying monogenic condition. Monogenic IBD is very different from complex forms of polygenic IBD in the underlying molecular basis of uncontrolled intestinal inflammation, age of onset, extraintestinal comorbidities as well as treatment modality. An in-depth understanding of this distinct form of IBD is essential for deciding an appropriate therapeutic approach as well as prognostication. In this review, we aim to discuss about the epidemiology, clinical presentation, diagnostic approach, therapeutic challenges and latest advances in patients with monogenic IBD.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"107165"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144981982","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":"Role of glucagon-like peptide-1 receptor agonists in pediatric obesity and metabolic dysfunction associated steatotic liver disease.","authors":"Rahiya Rehman","doi":"10.5409/wjcp.v14.i3.105731","DOIUrl":"10.5409/wjcp.v14.i3.105731","url":null,"abstract":"<p><p>This article examines the growing prevalence of pediatric obesity and its connection to metabolic dysfunction-associated steatotic liver disease (MASLD) in children and adolescents, focusing on the role of glucagon-like peptide-1 receptor agonists in treatment. Pediatric obesity and MASLD present significant long-term health risks, making early intervention crucial. The article reviews the pathophysiology of both pediatric obesity and MASLD, explores current therapeutic strategies, and discusses the emerging role of glucagon-like peptide-1 receptor agonists, such as liraglutide, semaglutide, exenatide, and dulaglutide, in managing obesity, as well as explores current limited pediatric literature on the use of these medications in MASLD.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"105731"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982065","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":"Role of artificial intelligence in congenital heart disease.","authors":"Subhrashis Guha Niyogi, Deb Sanjay Nag, Mandar Mahavir Shah, Amlan Swain, Chandrima Naskar, Preeti Srivastava, Ravi Kant","doi":"10.5409/wjcp.v14.i3.105926","DOIUrl":"10.5409/wjcp.v14.i3.105926","url":null,"abstract":"<p><p>This mini-review explores the transformative potential of artificial intelligence (AI) in improving the diagnosis, management, and long-term care of congenital heart diseases (CHDs). AI offers significant advancements across the spectrum of CHD care, from prenatal screening to postnatal management and long-term monitoring. Using AI algorithms, enhanced fetal echocardiography, and genetic tests improves prenatal diagnosis and risk stratification. Postnatally, AI revolutionizes diagnostic imaging analysis, providing more accurate and efficient identification of CHD subtypes and severity. Compared with traditional methods, advanced signal processing techniques enable a more precise assessment of hemodynamic parameters. AI-driven decision support systems tailor treatment strategies, thereby optimizing therapeutic interventions and predicting patient outcomes with greater accuracy. This personalized approach leads to better clinical outcomes and reduced morbidity. Furthermore, AI-enabled remote monitoring and wearable devices facilitate ongoing surveillance, thereby enabling early detection of complications and provision of prompt interventions. This continuous monitoring is crucial in the immediate postoperative period and throughout the patient's life. Despite the immense potential of AI, challenges remain. These include the need for standardized datasets, the development of transparent and understandable AI algorithms, ethical considerations, and seamless integration into existing clinical workflows. Overcoming these obstacles through collaborative data sharing and responsible implementation will unlock the full potential of AI to improve the lives of patients with CHD, ultimately leading to better patient outcomes and improved quality of life.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"105926"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12304924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982073","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":"Prematurity is a risk factor of disorders of gut-brain interaction in adults: A case-control study.","authors":"Olivier Courbette, Camille Girard-Bock, Anik Cloutier, Thuy Mai Luu, Anne Monique Nuyt, Christophe Faure","doi":"10.5409/wjcp.v14.i3.103590","DOIUrl":"10.5409/wjcp.v14.i3.103590","url":null,"abstract":"<p><strong>Background: </strong>Disorders of gut-brain interaction (DGBI) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms. Early-life stressors have been implicated as possible contributing factors.</p><p><strong>Aim: </strong>To determine if prematurity and neonatal factors influence the development of DGBI in adults.</p><p><strong>Methods: </strong>A case-control study was carried out at a tertiary referral center from July 2019 to July 2021. Cases (adults born with extremely premature < 29 weeks of gestation) were recruited from the Health of Adults Born Preterm Investigation cohort. Control subjects were recruited from the general population. All participants completed the Rome IV diagnostic questionnaire online. Cases completed anxiety and depression questionnaires (Patient-Reported Outcomes Measurement Information System-29 items, Generalized Anxiety Disorder-7 items, Patient Health Questionnaire-9 items). Neonatal data and sociodemographic status were collected.</p><p><strong>Results: </strong>A total of 79 cases and 124 controls were enrolled in the study. The group of adults born preterm exhibited a significantly higher prevalence of functional bowel disorders (<i>P</i> = 0.01) and a trend suggesting a higher prevalence of functional gastroduodenal disorders (<i>P</i> = 0.06). Among women born prematurely, the prevalence of functional gastroduodenal disorders, functional bowel disorders, and functional constipation was significantly higher compared to the female control group (<i>P</i> = 0.02 for all). The identified risk factors are categorized as directly linked to prematurity (<i>e.g.</i>, chorioamnionitis), indirectly related to prematurity (<i>e.g.</i>, anxiety, depression, and social skills as consequences of prematurity), or independent of prematurity (<i>e.g.</i>, female sex).</p><p><strong>Conclusion: </strong>This is the first case-control study reporting the prevalence of DGBI in a cohort of well-characterized adults born prematurely. We confirm that prematurity is a risk factor for developing a DGBI.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"103590"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982092","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":"Cow milk protein allergy mimics in infancy.","authors":"Mohammed Al-Beltagi, Nermin Kamal Saeed, Adel Salah Bediwy, Hosameldin A Bediwy, Reem Elbeltagi","doi":"10.5409/wjcp.v14.i3.103788","DOIUrl":"10.5409/wjcp.v14.i3.103788","url":null,"abstract":"<p><p>Cow milk protein allergy (CMPA) is a prevalent food allergy in infancy. It often presents with symptoms that overlap with other conditions, such as gastroesophageal reflux disease, lactose intolerance, food protein-induced enterocolitis syndrome, and eosinophilic esophagitis. This diagnostic overlap makes distinguishing CMPA from its mimics difficult, resulting in potential misdiagnoses and unnecessary dietary restrictions. This review aims to comprehensively analyze CMPA and its mimicking conditions, highlighting their clinical presentations, diagnostic approaches, and management strategies to enhance diagnostic accuracy and optimize patient care. A systematic literature search was conducted using PubMed, Scopus, Web of Science, and Google Scholar, focusing on studies published within the last 20 years. Articles addressing CMPA and its mimicking conditions were selected, with data synthesized into comparative analyses of diagnostic methods and management strategies. Accurate differentiation between CMPA and its mimics requires a thorough clinical evaluation supported by diagnostic tests such as skin prick tests, serum-specific IgE, and oral food challenges. Misdiagnosis can lead to nutritional deficiencies, psychological stress, and increased healthcare costs. Emerging diagnostic technologies, including component-resolved diagnostics and cytokine profiling, offer promising avenues for improving accuracy. A multidisciplinary approach involving pediatricians, allergists, and dietitians is essential for precise diagnosis and effective management. Ongoing research and education are crucial to enhancing clinical outcomes and reducing the burden on families.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"103788"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982128","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":"Non-esophageal eosinophilic gastrointestinal disease and chronic abdominal pain in children: A multicenter experience.","authors":"Bhaswati C Acharyya, Meghdeep Mukhopadhyay, Hema Chakrabarty","doi":"10.5409/wjcp.v14.i3.101468","DOIUrl":"10.5409/wjcp.v14.i3.101468","url":null,"abstract":"<p><strong>Background: </strong>Eosinophilic gastrointestinal (GI) disease (EGID) beyond eosinophilic esophagitis is not commonly reported in the developing world.</p><p><strong>Aim: </strong>To estimate the prevalence of EGID in a selected group of pediatric patients suffering from non-functional chronic abdominal pain (CAP).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on case records of children with CAP. Those exhibiting clinical or laboratory alarming features underwent endoscopic evaluation. Histopathology reports from upper GI endoscopy and ileo-colonoscopy determined the diagnosis of EGID. Subsequent analyses included clinical presentations, presence of atopy in the children or family, hemoglobin, albumin, serum immunoglobulin E (IgE), fecal calprotectin levels, endoscopic appearances, treatment methods, and outcomes.</p><p><strong>Results: </strong>A total of 368 children with organic CAP were subjected to endoscopic evaluation. Among them, 19 (5.2%) patients with CAP were diagnosed with EGID. The median age of the children was 11.1 years (interquartile range = 8.4-14.4). The estimated prevalence of EGID in children with organic CAP was 520/10000 children over 5 years. Periumbilical pain was the most common site (63%). Family history of atopy, peripheral blood eosinophilia, and elevated serum IgE were the three parameters significantly associated with EGID. Clinical remission was obtained in all children at 6 months. The 47% had microscopic remission and maintained remission until a 1-year follow-up. The 53% had a fluctuating clinical course after 6 months.</p><p><strong>Conclusion: </strong>EGID beyond the esophagus is not an uncommon entity among the children of India. It can contribute significantly to the etiology of pediatric CAP.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"101468"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144981970","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":"Phocomelia: Bilateral limb deficiency in a neonate: A case report.","authors":"Felix Pius Omullo, Kimiya Shahabi, Thomas Kimanzi Kitheghe, Brian Mutuku, Benjamin Wafula Simiyu","doi":"10.5409/wjcp.v14.i3.106524","DOIUrl":"10.5409/wjcp.v14.i3.106524","url":null,"abstract":"<p><strong>Background: </strong>Phocomelia is a rare congenital disorder characterized by the absence or underdevelopment of the proximal limbs. Phocomelia can occur as a syndrome or a limb-specific deformity. While historically linked to thalidomide, non-thalidomide causes include genetic mutations, vascular disruptions, and teratogenic exposures. This case highlights the diagnostic and therapeutic challenges in a neonate with bilateral phocomelia, low birth weight, asphyxia and jaundice.</p><p><strong>Case summary: </strong>We report a 2-week-old term neonate with bilateral phocomelia, micrognathia, jaundice, and low birth weight. The pregnancy was unremarkable, with no thalidomide exposure. The mother had a history of early pregnancy losses. Clinical evaluation revealed absent humeri and radii bilaterally, with hands attached proximally to the trunk. Genetic testing was not performed, limiting the identification of underlying etiology. The patient was managed with supportive care, parental counseling, and planning for long-term rehabilitation. This case underscores the importance of multidisciplinary care in managing congenital anomalies. Genetic evaluation is crucial in unexplained congenital anomalies. Routine detailed ultrasounds in high-risk pregnancies aid in early diagnosis and parental preparedness.</p><p><strong>Conclusion: </strong>Bilateral phocomelia presents significant functional challenges. Comprehensive diagnostic workups and early rehabilitation strategies are essential for optimizing patient outcomes.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 3","pages":"106524"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982144","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}