Results 21 to 30 of about 2,010 (84)

A Case of Nonimmune Hydrops Fetalis With a Duct‐Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Introduction Nonimmune hydrops fetalis (NIHF) has numerous etiologies, the most common of which are cardiac anomalies and fetal infection. However, genetic disorders are also being increasingly recognized as a cause of NIHF. Here, we report a case of a neonate presenting with polyhydramnios, NIHF, structural heart disease, and diaphragmatic defect who ...
Rameshwar Prasad, Sudipta Sahoo, Richie Dalai, Keshav Kumar Pathak, Bhabesh Kant Chowdhary, Richa Sharma   +5 more
wiley   +1 more source

Bochdalek Hernia as a Discrepant Intraoperative Diagnosis in a Paraesophageal Hernia Surgery: A Surgical Case Report

Case Reports in Surgery, Volume 2026, Issue 1, 2026.
Bochdalek hernia (BH) is a rare paediatric condition, but late diagnoses occur in adults. It occurs following incomplete posterolateral development of the diaphragm. Adult BH is asymptomatic in most cases, but it has the potential of being life‐threatening.
Walter Abila Akello, I. M. Karani, W. O. Sibuor, Amos Washika, Andee Dzulkarnaen Zakaria   +4 more
wiley   +1 more source

Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases

Acta Paediatrica, Volume 114, Issue 12, Page 3252-3257, December 2025.
ABSTRACT Aim Congenital diaphragmatic hernia (CDH) is a severe malformation with high morbidity and mortality. This Danish study evaluated the birth prevalence, co‐occurring malformations, and temporal trends of CDH over nearly three decades. Methods Nationwide data from the Danish Biobank Register were used to identify liveborn infants diagnosed with ...
Ulrik Lausten‐Thomsen, Paula L. Hedley, Kristin M. Conway, Katrine M. Løfberg, Lars S. Johansen, Paul A. Romitti, Michael Christiansen   +6 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

A Rare Case of Chilaiditi Syndrome as a Driver of Chronic Respiratory Failure

Respirology Case Reports, Volume 13, Issue 11, November 2025.
This case describes a 66‐year‐old woman with chronic hypercapnic and hypoxemic respiratory failure due to Chilaiditi syndrome, an uncommon complication of bowel interposition between the liver and diaphragm. Her course was refractory to noninvasive ventilation and conservative bowel regimens, ultimately proving fatal.
Paige C. Adams, Daniel Kramer
wiley   +1 more source

Wandering Spleen, A Rare Cause of Acute Abdomen: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT A wandering spleen (WS) is rare and often presents a diagnostic challenge to clinicians. We report a WS in a 16‐year‐old who presented with abdominal pain, vomiting, and peritonism. Imaging (ultrasound and CT scans), which usually facilitates a prompt diagnosis, was inconclusive, and the diagnosis was made by exploratory laparotomy.
John Kanyiri Yambah, Kojo Amanfo Ninson, Abdul Samed Sulemana, Richardson Edwin Annan, Vishnu Nene Limon Abayateye, Gifty Aba Donkor, Moses Dokurugu, Ninnang Tobias   +7 more
wiley   +1 more source

Thoracotomies in Children in Low to Middle Income Countries: The Indications for Surgery

Pediatric Pulmonology, Volume 60, Issue 10, October 2025.
ABSTRACT Introduction There is a scarcity of data on the utilization of thoracotomy for lung pathology in children in low‐ and middle‐income countries (LMICs). These countries have high burdens of infectious diseases, especially tuberculosis, hydatic disease and Human immunodeficiency virus (HIV).
Jacobus Botha, Pierre Goussard, Jacques Janson, Zane Ismail, Jin Kim, Francois Retief, Jonathan Burke, André Gie, Delano Rhode, Pawel Schubert, Savvas Andronikou   +10 more
wiley   +1 more source

Lower Thoracic Epidural Block in Diaphragmatic Plication: A Case Report. [PDF]

Ann Card Anaesth
Jose J, Panidapu N, Kalligudd SM, Madathil T, Micka R, Joseph TJ, Vijayan PD, Palamattam DJ, Neema PK.   +8 more
europepmc   +1 more source

Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1. [PDF]

Am J Forensic Med Pathol
Wu S, Prahlow JA.
europepmc   +1 more source

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate. [PDF]

Radiol Case Rep
Imdadoglu T, Unal I, Yasar E, Alomari O, Guzel B, Boyaci E, Altuncu E.   +6 more
europepmc   +1 more source