Results 31 to 40 of about 1,285 (112)
Heterotaxy syndrome with left atrial isomerism and polysplenia is a unique entity: a case report
Egyptian Journal of Chest Disease and Tuberculosis, 2021 A state of a patient with heterotaxy syndrome with polysplenia was indiscriminately diagnosed through visualized estimation (computed tomography and pelviabdominal ultrasound) regardless of the pathological state.
Rana El-Helbawy +2 more
doaj +1 more source
Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome
Revista Portuguesa de Cardiologia, 2015 Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of ...
Ricardo Duarte, Humberto Morais
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Student's Journal of Health Research Africa, 2023 Biliary atresia is a destructive, idiopathic, and inflammatory cholangiopathy that affects intra and extra-hepatic bile ducts leading to fibrosis and obliteration of the biliary tract and development of liver cirrhosis.
Evalyne Tukwasibwe +3 more
doaj +1 more source
Anomalies of Abdominal Organs in Polysplenia Syndrome: Multidetector Computed Tomography Findings
대한영상의학회지, 2016 Polysplenia syndrome is a rare situs ambiguous anomaly associated with multiple spleens and anomalies of abdominal organs. Because most of the minor anomalies do not cause clinical symptoms, polysplenia syndrome is detected incidentally in the adults ...
Sungwon Kim, Yong Seok Lee, Jin-Hee Jung
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Clinical implications of congenital interruption of inferior vena cava
Journal of the Formosan Medical Association, 2022 Background/purpose: Inferior vena cava (IVC) interruption is rare and can be detected through prenatal or postnatal imaging. It usually occurs in patients with heterotaxy syndrome with bilateral left-sidedness (left isomerism or polysplenia syndrome ...
Shyh-Jye Chen, Mei-Hwan Wu, Jou-Kou Wang
doaj +1 more source
Clinical Case Reports, 2021 Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still challenging with a poor prognosis. Proper counseling to the family about the disease course,
Sanjeev Kharel +6 more
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Heterotaxy Syndrome with Polysplenia, Fused Adrenal Glands, and Diabetes Mellitus
Clinical Medicine Insights: Cardiology, 2022 Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass.
Abid M Sadiq, Adnan M Sadiq
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Clinical Genetics, Volume 109, Issue 5, Page 937-945, May 2026.CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab +7 more
wiley +1 more source
Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source
Unusual, unexpected course of temporary pacing lead leading to diagnosis of a rare syndrome
IHJ Cardiovascular Case Reports, 2019 We describe a case of an elderly female with complete heart block where temporary pacemaker insertion led to diagnosis of inferior vena cava interruption, leading further to diagnosis of polysplenia syndrome.
M.P. Girish +4 more
doaj +1 more source