Results 61 to 70 of about 1,990 (191)

Heterotaxy syndrome with polysplenia: case report [PDF]

Heterotaxy syndrome (HS) or situs ambiguus is a rare condition, more common in women, in which internal organs are abnormally arranged within the thoracic and abdominal cavities. The condition may manifest as asplenia or polysplenia, characterized by the
Moreira, Sarah Verdan, Marcos, Vinícius Neves, Scapim, Stephania Neves, Ferreira, Priscila Rizutti   +3 more
core   +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, Mohit D. Gupta, Prattay Guha Sarkar, Ankit Bansal, Sanjay Tyagi   +4 more
doaj   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

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, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Indian Journal of Radiology and Imaging, 2019
We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA).
Prateek Agarwal, Rajesh Kumar Agarwal
doaj   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

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, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

A Case of Polysplenia Syndrome Presenting with Ascites

, 2012
Polysplenia syndrome is a rare congenital anomaly frequently associated with various visceral anomalies. The most frequent manifestations of this syndrome, in addition to polysplenia are malrotation, congenital heart diseases and gastrointestinal ...
Ozgur, ORHAN, Erkut, MURAT, Demirel, Adem, Fidan, SAMİ, Ahmetoglu, ALİ, COŞAR, ARİF MANSUR   +5 more
core   +1 more source

Outcomes of Cardiac Repair in Heterotaxy Syndrome Patients—Tertiary Center Experience

CJC Pediatric &Congenital Heart Disease, Volume 5, Issue 1, Page 12-19, February 2026.
Abstract Background This study aims to determine factors associated with poor outcomes and frequency of arrhythmia incidence in patients with heterotaxy syndrome (HS). Methods A retrospective cohort study in a single tertiary center was conducted and included patients with operated HS between 2011 and 2020.
Mohammad A. Ebrahim, Nada T. Alzayed, Sakeena M. Alsahhaf, Mohammad A. Almulla, Karim M. Yassin, Leina A. Shabaan, Moustafa A. Elsayed, Vadim G. Lyubomudrov   +7 more
wiley   +1 more source

Polysplenia Syndrome With Persistent Left Superior Vena Cava: Case Report and Review of the Literature

Global Pediatric Health, 2022
Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a number of malformations that appear between the fourth and sixth week of embryonic ...
El Houss Salma MD, Amsiguine Najwa MD, Tantaoui Mehdi MD, Allali Nazik PhD, Chat Latifa PhD, El Haddad Siham PhD   +5 more
doaj   +1 more source

Bilateral Anophthalmia Associated With Ventricular Septal Defect, Atrial Septal Defect, and Patent Ductus Arteriosus: A Rare Neonatal Case Report

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Anophthalmia is a rare congenital ocular malformation characterized by the complete absence of the eye and its associated ocular structures. Bilateral anophthalmia is particularly uncommon and is frequently associated with multisystem congenital anomalies.
Abdullahi Ali Roble, Abdisalam Ismail Hassan, Said Abdi Mohamed, Hassan Muhumed Mohamed, Ishak Ahmed Abdi, Abdijalil Abdullahi Ali, Balqiz Mohamed Kulle, Ahmed Shafie Aden, Hanan Hassan Hirei Abdalla, Mohamed Osman Dahir Alasow, Shuayb Abdullahi Adan, Ahmed Muhamad Bashir, Baisakhi Banerjee   +12 more
wiley   +1 more source

Incidental Diagnosis of Situs Inversus Totalis in a 45‐Year‐Old Male Who Presented With Acute Asthma Exacerbation: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Incidental situs inversus totalis (SIT) requires thorough anatomical mapping to exclude associated syndromes (e.g., Kartagener) and congenital anomalies. Early identification, patient education on mirrored anatomy, and multidisciplinary coordination are essential to prevent iatrogenic errors during future interventions, even in asymptomatic ...
Ragasa Getachew Bayisa, Lensa Million Baharu, Mohammed Mecha Abafogi, Yosef Bekele Bonsa, Mohammed Kedir Shukri, Tamirat Godebo Woyimo   +5 more
wiley   +1 more source