Results 31 to 40 of about 1,525 (164)

World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective

Children, 2023
The goal of this manuscript is to present and summarize several rare pediatric syndromes (Zellweger syndrome, Kartagener syndrome, Prader-Willi syndrome, Schinzel-Giedion syndrome, Fanconi anemia, Joubert-Boltshauser syndrome, Poretti-Boltshauser ...
Laura M. Huisman, Thierry A. G. M. Huisman   +1 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

Surgical Challenges in Papillary Thyroid Cancer Patient With Kartagener's Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Kartagener's syndrome is a rare disorder defined by situs inversus, chronic sinusitis, and bronchiectasis, with mirror‐image anatomy that may alter recurrent laryngeal nerve course and vascular structures. No previous reports have described thyroid cancer surgery details in this population.
Jianhao Huang, Tingting Zhao, Minghui Wei   +2 more
wiley   +1 more source

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus

Frontiers in Genetics, 2020
Introduction: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease characterized by structural or functional motile cilia abnormalities. Up to 40 different genes seem, at the moment, to be involved in the pathogenesis of PCD.
Rossella Cannarella, Eugenia Tiziana Maniscalchi, Rosita Angela Condorelli, Marina Scalia, Giulia Guerri, Sandro La Vignera, Matteo Bertelli, Aldo Eugenio Calogero   +7 more
doaj   +1 more source

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil, Sakib Abrar, Shah Tanvir Ahmed, Md. Imran Hossain   +3 more
wiley   +1 more source

Kartagener Syndrome: A Rare Genetic Disorder

Journal of Nepal Medical Association, 2009
Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure ...
Kunjan Shakya
doaj   +1 more source

Surgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9‐Year‐Old Female

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Kartagner syndrome is a rare congenital autosomal recessive disorder of ciliary movement, characterized by triad of chronic sinusitis, situs inversus and bronchiectasis leading to recurrent chest and sinuses infections. The primary objectives of this case report is to highlight the presentation of this rare disorder, its surgical challenge ...
Pakeezah Tabasum, Makhdooom Bilawal, Priya Devi, Waseem Sajjad, Ali Raza Brohi, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Kartagener's syndrome in pregnancy

Journal of Obstetrics and Gynaecology, 2002
(2002). Kartagener's syndrome in pregnancy. Journal of Obstetrics and Gynaecology: Vol. 22, No. 1, pp. 89-90.
Sharon, Cooley, Savita, Lalchandani, D P, Keane   +2 more
openaire   +2 more sources

Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis

BioMed Research International, Volume 2026, Issue 1, 2026.
Purpose This study conducted a comprehensive bibliometric analysis of research hotspots and development trends in ciliopathies to provide an overview of the global research landscape. Methods The study retrieved relevant literature on ciliopathies from the Web of Science Core Collection up to July 27, 2024.
Qian Dong, Jinhao Zhu, Jiang Liu, Huan Xu, Hannah Wesley   +4 more
wiley   +1 more source

Zero‐Fluoroscopy Radiofrequency Ablation of a Right Ventricular Outflow Tract PVC in a Patient With Situs Inversus Totalis: When Precision Matters

Case Reports in Cardiology, Volume 2026, Issue 1, 2026.
Background Congenital cardiac anomalies present unique challenges for adult cardiac electrophysiologists, particularly when attempting complex ablation procedures. Case Summary We report the case of a 60‐year‐old male with situs inversus totalis who presented with symptomatic, high‐burden premature ventricular complexes (PVCs) refractory to medical ...
Eduardo Sanhueza, Matthew Hanson, Victor Neira, Sanoj Chacko, Andres Enriquez, Roji Oli, Mariana Saramago, Cengiz Burak, Satabdi Datta Choudhury   +8 more
wiley   +1 more source