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Congenital defects / diseases

#948999

15 Jan 2026 : Case report  Albania

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype

Paskal Cullufi ORCID logo, Virtut Velmishi ORCID logo, Ermira Dervishi, Sonila Tomori ORCID logo, Gladiola Hoxha, Eda Jazexhiu-Postoli ORCID logo, Entela Basha ORCID logo, Aferdita Kumaraku Tako, Mirela Tabaku ORCID logo

DOI: 10.12659/AJCR.948999

Am J Case Rep 2026; 27:e948999

877 1,616 0

#948999

15 Jan 2026 : Case report  Albania

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype

Paskal Cullufi ORCID logo, Virtut Velmishi ORCID logo, Ermira Dervishi, Sonila Tomori ORCID logo, Gladiola Hoxha, Eda Jazexhiu-Postoli ORCID logo, Entela Basha ORCID logo, Aferdita Kumaraku Tako, Mirela Tabaku ORCID logo

DOI: 10.12659/AJCR.948999

Am J Case Rep 2026; 27:e948999

877 1616 0

#949945

13 Jan 2026 : Case report  USA

Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain

Gurpreet Singh, Jack Petroski, Drake Marden, Andrew Knauer

DOI: 10.12659/AJCR.949945

Am J Case Rep 2026; 27:e949945

856 1,207 0

#949945

13 Jan 2026 : Case report  USA

Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain

Gurpreet Singh, Jack Petroski, Drake Marden, Andrew Knauer

DOI: 10.12659/AJCR.949945

Am J Case Rep 2026; 27:e949945

856 1207 0

#950027

31 Dec 2025 : Case report  Italy

Anesthetic Management of a 32-Year-Old Woman Undergoing Laparoscopic Gynecological Surgery With Prior Fontan Repair for a Complex Congenital Heart Defect

Stefano Catarci ORCID logo, Bruno Antonio Zanfini, Gennaro Canistro ORCID logo, Giovanni Maria Maddaloni, Pietro Paolo Giuri, Gian Luigi Gonnella, Luciano Frassanito ORCID logo, Mariano Ciancia, Emanuele Capone, Paolo Lazzaro, Gaetano Draisci

DOI: 10.12659/AJCR.950027

Am J Case Rep 2025; 26:e950027

917 1,737 0

#950027

31 Dec 2025 : Case report  Italy

Anesthetic Management of a 32-Year-Old Woman Undergoing Laparoscopic Gynecological Surgery With Prior Fontan Repair for a Complex Congenital Heart Defect

Stefano Catarci ORCID logo, Bruno Antonio Zanfini, Gennaro Canistro ORCID logo, Giovanni Maria Maddaloni, Pietro Paolo Giuri, Gian Luigi Gonnella, Luciano Frassanito ORCID logo, Mariano Ciancia, Emanuele Capone, Paolo Lazzaro, Gaetano Draisci

DOI: 10.12659/AJCR.950027

Am J Case Rep 2025; 26:e950027

917 1737 0

#949879

24 Dec 2025 : Case report  Greece

Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report

Alexandra Arvanitaki ORCID logo, Marios Georgios Bantidos ORCID logo, Theodora Zaglavara ORCID logo, Lydia Kalogeropoulou ORCID logo, Athanasios Samaras ORCID logo, Athina Nasoufidou ORCID logo, Efstratios Karagiannidis ORCID logo, Georgios Stavropoulos ORCID logo, Apostolos Tzikas ORCID logo, Nikolaos Fragakis ORCID logo

DOI: 10.12659/AJCR.949879

Am J Case Rep 2025; 26:e949879

817 1,449 0

#949879

24 Dec 2025 : Case report  Greece

Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report

Alexandra Arvanitaki ORCID logo, Marios Georgios Bantidos ORCID logo, Theodora Zaglavara ORCID logo, Lydia Kalogeropoulou ORCID logo, Athanasios Samaras ORCID logo, Athina Nasoufidou ORCID logo, Efstratios Karagiannidis ORCID logo, Georgios Stavropoulos ORCID logo, Apostolos Tzikas ORCID logo, Nikolaos Fragakis ORCID logo

DOI: 10.12659/AJCR.949879

Am J Case Rep 2025; 26:e949879

817 1449 0

#949960

21 Nov 2025 : Case report  Ecuador

Left-Sided Perforated Appendicitis in an Elderly Man with Intestinal Malrotation: A Case Report

Jose Samaniego-Burneo ORCID logo, Jordan Llerena-Velastegui ORCID logo, Alberto Gordillo-Calero, Brenda Santamaria-Penafiel, Natalia Lopez-Yepez

DOI: 10.12659/AJCR.949960

Am J Case Rep 2025; 26:e949960

876 1,418 0

#949960

21 Nov 2025 : Case report  Ecuador

Left-Sided Perforated Appendicitis in an Elderly Man with Intestinal Malrotation: A Case Report

Jose Samaniego-Burneo ORCID logo, Jordan Llerena-Velastegui ORCID logo, Alberto Gordillo-Calero, Brenda Santamaria-Penafiel, Natalia Lopez-Yepez

DOI: 10.12659/AJCR.949960

Am J Case Rep 2025; 26:e949960

876 1418 0

#948995

01 Dec 2025 : Case report  Saudi Arabia

Transcatheter Aortic Valve Implantation with Anomalous Left Main Origin From Right Coronary Cusp: A Case Report

Raghad Mohammed Altayyar, Faisal Omar Al-Nasser, Mohamed Ajaz Ghani

DOI: 10.12659/AJCR.948995

Am J Case Rep 2025; 26:e948995

854 1,601 0

#948995

01 Dec 2025 : Case report  Saudi Arabia

Transcatheter Aortic Valve Implantation with Anomalous Left Main Origin From Right Coronary Cusp: A Case Report

Raghad Mohammed Altayyar, Faisal Omar Al-Nasser, Mohamed Ajaz Ghani

DOI: 10.12659/AJCR.948995

Am J Case Rep 2025; 26:e948995

854 1601 0

#949341

13 Nov 2025 : Case report  Poland

Use of Bonebridge Implant in a Child with Congenital Cholesteatoma: A Case Report

Katarzyna B. Cywka ORCID logo, Emilia A. Czaplicka ORCID logo, Piotr H. Skarżyński ORCID logo

DOI: 10.12659/AJCR.949341

Am J Case Rep 2025; 26:e949341

791 1,477 0

#949341

13 Nov 2025 : Case report  Poland

Use of Bonebridge Implant in a Child with Congenital Cholesteatoma: A Case Report

Katarzyna B. Cywka ORCID logo, Emilia A. Czaplicka ORCID logo, Piotr H. Skarżyński ORCID logo

DOI: 10.12659/AJCR.949341

Am J Case Rep 2025; 26:e949341

791 1477 0

#948160

16 Nov 2025 : Case report  China

Hereditary Persistence of Alpha-Fetoprotein and Safe Application of Growth Hormone in Familial Short Stature: A Case Report

Song Guo, Jun Zhang, Qiuli Chen, Yongguo Yu ORCID logo, Huamei Ma

DOI: 10.12659/AJCR.948160

Am J Case Rep 2025; 26:e948160

698 2,544 0

#948160

16 Nov 2025 : Case report  China

Hereditary Persistence of Alpha-Fetoprotein and Safe Application of Growth Hormone in Familial Short Stature: A Case Report

Song Guo, Jun Zhang, Qiuli Chen, Yongguo Yu ORCID logo, Huamei Ma

DOI: 10.12659/AJCR.948160

Am J Case Rep 2025; 26:e948160

698 2544 0

#950091

11 Nov 2025 : Case report  Saudi Arabia

Myocardial Ischemia Secondary to Anomalous Origin of Left Anterior Descending Coronary Artery: A Case Report and Literature Review

Osama A. Abdulrahman, Marah M. Alsulami, Shumukh B. Altuwairgi, Mohammad F. Babgi, Nabil A. Alrashidi, Ehab Kasem, Mohammed H. Miny, Elnazeer O. Ahmed

DOI: 10.12659/AJCR.950091

Am J Case Rep 2025; 26:e950091

908 1,695 0

#950091

11 Nov 2025 : Case report  Saudi Arabia

Myocardial Ischemia Secondary to Anomalous Origin of Left Anterior Descending Coronary Artery: A Case Report and Literature Review

Osama A. Abdulrahman, Marah M. Alsulami, Shumukh B. Altuwairgi, Mohammad F. Babgi, Nabil A. Alrashidi, Ehab Kasem, Mohammed H. Miny, Elnazeer O. Ahmed

DOI: 10.12659/AJCR.950091

Am J Case Rep 2025; 26:e950091

908 1695 0

#949311

09 Oct 2025 : Case report  USA

Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report

Grace Z. Armstrong, Kathleen K. Ho, Tyler J. Knight, Erin E. Conboy

DOI: 10.12659/AJCR.949311

Am J Case Rep 2025; 26:e949311

440 1,632 0

#949311

09 Oct 2025 : Case report  USA

Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report

Grace Z. Armstrong, Kathleen K. Ho, Tyler J. Knight, Erin E. Conboy

DOI: 10.12659/AJCR.949311

Am J Case Rep 2025; 26:e949311

440 1632 0

#948437

14 Sep 2025 : Case report  Saudi Arabia

Right Hepatic Lobe Hypoplasia and Gangrenous Cholecystitis: Surgical Implications and Case Report

Mohamad Ayham Muqresh, Sandrella I. Zebian, Abdulkarim M. Alkadrou, Osama Al-Shoaib, Thamer Bin Traiki

DOI: 10.12659/AJCR.948437

Am J Case Rep 2025; 26:e948437

625 1,384 0

#948437

14 Sep 2025 : Case report  Saudi Arabia

Right Hepatic Lobe Hypoplasia and Gangrenous Cholecystitis: Surgical Implications and Case Report

Mohamad Ayham Muqresh, Sandrella I. Zebian, Abdulkarim M. Alkadrou, Osama Al-Shoaib, Thamer Bin Traiki

DOI: 10.12659/AJCR.948437

Am J Case Rep 2025; 26:e948437

625 1384 0

#947791

05 Sep 2025 : Case report  Poland

Management of Unilateral Hearing Loss in a 14-Year-Old with Internal Auditory Canal Duplication Using a Bonebridge Bone Conduction Implant

Anna K. Piecuch ORCID logo, Katarzyna B. Cywka ORCID logo, Piotr H. Skarżyński ORCID logo, Henryk Skarżyński ORCID logo

DOI: 10.12659/AJCR.947791

Am J Case Rep 2025; 26:e947791

525 2,048 0

#947791

05 Sep 2025 : Case report  Poland

Management of Unilateral Hearing Loss in a 14-Year-Old with Internal Auditory Canal Duplication Using a Bonebridge Bone Conduction Implant

Anna K. Piecuch ORCID logo, Katarzyna B. Cywka ORCID logo, Piotr H. Skarżyński ORCID logo, Henryk Skarżyński ORCID logo

DOI: 10.12659/AJCR.947791

Am J Case Rep 2025; 26:e947791

525 2048 0

#949318

02 Sep 2025 : Case report  USA

Ex-Utero Intrapartum Treatment for a Fetal Cervical Teratoma with Mediastinal Extension: A Case Report

Madison Crew ORCID logo, Caitlin R. Eason ORCID logo, Courtney Breckenfelder ORCID logo, James Jaggers, Sarah A. Gitomer ORCID logo, Regina M. Reynolds, Michael V. Zaretsky, S. Christopher Derderian

DOI: 10.12659/AJCR.949318

Am J Case Rep 2025; 26:e949318

572 1,051 0

#949318

02 Sep 2025 : Case report  USA

Ex-Utero Intrapartum Treatment for a Fetal Cervical Teratoma with Mediastinal Extension: A Case Report

Madison Crew ORCID logo, Caitlin R. Eason ORCID logo, Courtney Breckenfelder ORCID logo, James Jaggers, Sarah A. Gitomer ORCID logo, Regina M. Reynolds, Michael V. Zaretsky, S. Christopher Derderian

DOI: 10.12659/AJCR.949318

Am J Case Rep 2025; 26:e949318

572 1051 0

#948417

31 Jul 2025 : Case report  Indonesia

Evidence of Vertical Dengue Transmission: A Case of Fever in a 4-Day-Old Neonate

Bugis Mardina Lubis, Rycha Dwi Syafutri, Halisa Tiara Ariani Matondang, Dewi Sari

DOI: 10.12659/AJCR.948417

Am J Case Rep 2025; 26:e948417

893 1,293 0

#948417

31 Jul 2025 : Case report  Indonesia

Evidence of Vertical Dengue Transmission: A Case of Fever in a 4-Day-Old Neonate

Bugis Mardina Lubis, Rycha Dwi Syafutri, Halisa Tiara Ariani Matondang, Dewi Sari

DOI: 10.12659/AJCR.948417

Am J Case Rep 2025; 26:e948417

893 1293 0

#948098

29 Jul 2025 : Case report  China

Modified Piggy-Back Technique for Orthotopic Liver Transplantation in a 67-Year-Old Woman with Situs Inversus Totalis: A Case Report

Wen-rui Wu, Li Pang, Fa-peng Zhang, Ming-bin Feng, Lei-bo Xu ORCID logo, Chao Liu

DOI: 10.12659/AJCR.948098

Am J Case Rep 2025; 26:e948098

728 1,514 0

#948098

29 Jul 2025 : Case report  China

Modified Piggy-Back Technique for Orthotopic Liver Transplantation in a 67-Year-Old Woman with Situs Inversus Totalis: A Case Report

Wen-rui Wu, Li Pang, Fa-peng Zhang, Ming-bin Feng, Lei-bo Xu ORCID logo, Chao Liu

DOI: 10.12659/AJCR.948098

Am J Case Rep 2025; 26:e948098

728 1514 0

#949194

13 Jul 2025 : Case report  Switzerland

Adult Acute Appendicitis Complicated by Intestinal Malrotation: A Case Analysis

Daniel Krstic ORCID logo, Dimitrios Chatziisaak ORCID logo, Strahinja Konstantinović ORCID logo, Luca Benigno, Christopher Soll, Magdalena Biraima

DOI: 10.12659/AJCR.949194

Am J Case Rep 2025; 26:e949194

940 2,200 0

#949194

13 Jul 2025 : Case report  Switzerland

Adult Acute Appendicitis Complicated by Intestinal Malrotation: A Case Analysis

Daniel Krstic ORCID logo, Dimitrios Chatziisaak ORCID logo, Strahinja Konstantinović ORCID logo, Luca Benigno, Christopher Soll, Magdalena Biraima

DOI: 10.12659/AJCR.949194

Am J Case Rep 2025; 26:e949194

940 2200 0

#948656

03 Jul 2025 : Case report  Kenya

Adult Presentation of Anorectal Malformation: A 19-Year-Old Woman with a Delayed Diagnosis of Recto-Vestibular Fistula

Brian Osiemo Bichanga ORCID logo, Francisca Syovata Munyalo, Caroline K. Mwende ORCID logo, Yvonne A. Olwang, Sarah Okebe ORCID logo, Joel Lessan, Peter M. Mwika

DOI: 10.12659/AJCR.948656

Am J Case Rep 2025; 26:e948656

1,196 2,840 0

#948656

03 Jul 2025 : Case report  Kenya

Adult Presentation of Anorectal Malformation: A 19-Year-Old Woman with a Delayed Diagnosis of Recto-Vestibular Fistula

Brian Osiemo Bichanga ORCID logo, Francisca Syovata Munyalo, Caroline K. Mwende ORCID logo, Yvonne A. Olwang, Sarah Okebe ORCID logo, Joel Lessan, Peter M. Mwika

DOI: 10.12659/AJCR.948656

Am J Case Rep 2025; 26:e948656

1196 2840 0

#947068

30 Jun 2025 : Case report  USA

Incidental Pelvic Ectopic Kidney Discovery During Pre-TAVR Imaging: Implications for Surgical Planning

Prem Patel, Irina Radu, Nikolaos Kakouros ORCID logo

DOI: 10.12659/AJCR.947068

Am J Case Rep 2025; 26:e947068

951 1,642 0

#947068

30 Jun 2025 : Case report  USA

Incidental Pelvic Ectopic Kidney Discovery During Pre-TAVR Imaging: Implications for Surgical Planning

Prem Patel, Irina Radu, Nikolaos Kakouros ORCID logo

DOI: 10.12659/AJCR.947068

Am J Case Rep 2025; 26:e947068

951 1642 0

#946997

28 Jun 2025 : Case report  Australia

Paradoxical Embolism Through Patent Foramen Ovale: A Case Report of Thrombus in Transit

Shin Yee Lok ORCID logo, Siobhan Lockwood, Timothy K. Yang, Yi Chen

DOI: 10.12659/AJCR.946997

Am J Case Rep 2025; 26:e946997

1,326 4,932 0

#946997

28 Jun 2025 : Case report  Australia

Paradoxical Embolism Through Patent Foramen Ovale: A Case Report of Thrombus in Transit

Shin Yee Lok ORCID logo, Siobhan Lockwood, Timothy K. Yang, Yi Chen

DOI: 10.12659/AJCR.946997

Am J Case Rep 2025; 26:e946997

1326 4932 0

#946041

30 Apr 2025 : Case report  Indonesia

Insights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report

Fatima Zahra ORCID logo, Nathania Tjuwatja ORCID logo, Setyorini Irianti, Putri Nadhira Adinda Adriansyah ORCID logo

DOI: 10.12659/AJCR.946041

Am J Case Rep 2025; 26:e946041

1,116 1,764 0

#946041

30 Apr 2025 : Case report  Indonesia

Insights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report

Fatima Zahra ORCID logo, Nathania Tjuwatja ORCID logo, Setyorini Irianti, Putri Nadhira Adinda Adriansyah ORCID logo

DOI: 10.12659/AJCR.946041

Am J Case Rep 2025; 26:e946041

1116 1764 0

#945927

03 May 2025 : Case report  USA

Psoas Quartus and Femoral Nerve Branching: A Case Report and Potential Clinical Implications

Joshua Wang ORCID logo, Chun Yeung, Eric Chang, Jason M. Bourke

DOI: 10.12659/AJCR.945927

Am J Case Rep 2025; 26:e945927

928 2,724 0

#945927

03 May 2025 : Case report  USA

Psoas Quartus and Femoral Nerve Branching: A Case Report and Potential Clinical Implications

Joshua Wang ORCID logo, Chun Yeung, Eric Chang, Jason M. Bourke

DOI: 10.12659/AJCR.945927

Am J Case Rep 2025; 26:e945927

928 2724 0

#946151

22 Mar 2025 : Case report  Poland

Challenges of Duplicated Portal Vein in Elective Laparoscopic Cholecystectomy: A Case Report

Aleksandra Frankowska, Konrad Kobryń ORCID logo, Paweł Rykowski ORCID logo, Krzysztof Gibiński ORCID logo, Michał Grąt ORCID logo

DOI: 10.12659/AJCR.946151

Am J Case Rep 2025; 26:e946151

1,442 2,324 0

#946151

22 Mar 2025 : Case report  Poland

Challenges of Duplicated Portal Vein in Elective Laparoscopic Cholecystectomy: A Case Report

Aleksandra Frankowska, Konrad Kobryń ORCID logo, Paweł Rykowski ORCID logo, Krzysztof Gibiński ORCID logo, Michał Grąt ORCID logo

DOI: 10.12659/AJCR.946151

Am J Case Rep 2025; 26:e946151

1442 2324 0

#947122

16 Apr 2025 : Case report  USA

Left Main Coronary Artery Fistula Presenting as Heart Failure: A Case Report

Teresa Bernardes, Shivangi Patel, Alexander Kong ORCID logo, Jonathan Ortiz, Yahaira Ortiz, Stephen Carlan ORCID logo

DOI: 10.12659/AJCR.947122

Am J Case Rep 2025; 26:e947122

1,222 2,615 0

#947122

16 Apr 2025 : Case report  USA

Left Main Coronary Artery Fistula Presenting as Heart Failure: A Case Report

Teresa Bernardes, Shivangi Patel, Alexander Kong ORCID logo, Jonathan Ortiz, Yahaira Ortiz, Stephen Carlan ORCID logo

DOI: 10.12659/AJCR.947122

Am J Case Rep 2025; 26:e947122

1222 2615 0

#946782

30 Mar 2025 : Case report  Slovenia

Multidisciplinary Management of Pregnancy in Bladder Exstrophy: A Case Report

Marija Batkoska ORCID logo, Polona Pečlin ORCID logo

DOI: 10.12659/AJCR.946782

Am J Case Rep 2025; 26:e946782

1,098 2,452 0

#946782

30 Mar 2025 : Case report  Slovenia

Multidisciplinary Management of Pregnancy in Bladder Exstrophy: A Case Report

Marija Batkoska ORCID logo, Polona Pečlin ORCID logo

DOI: 10.12659/AJCR.946782

Am J Case Rep 2025; 26:e946782

1098 2452 0

#944772

10 Mar 2025 : Case report  Indonesia

Imaging and Diagnostic Challenges in an 11-Year-Old Girl with Vaginal Agenesis: A Case Report

Betari Dhira Paramita ORCID logo, Dalri Muhammad Suhartomo ORCID logo, Mochamad Rizkar Arev Sukarsa, Andi Rinaldi, Aria Prasetya Ma'soem, Putri Nadhira Adinda Adriansyah ORCID logo

DOI: 10.12659/AJCR.944772

Am J Case Rep 2025; 26:e944772

1,256 2,610 0

#944772

10 Mar 2025 : Case report  Indonesia

Imaging and Diagnostic Challenges in an 11-Year-Old Girl with Vaginal Agenesis: A Case Report

Betari Dhira Paramita ORCID logo, Dalri Muhammad Suhartomo ORCID logo, Mochamad Rizkar Arev Sukarsa, Andi Rinaldi, Aria Prasetya Ma'soem, Putri Nadhira Adinda Adriansyah ORCID logo

DOI: 10.12659/AJCR.944772

Am J Case Rep 2025; 26:e944772

1256 2610 0

In Press

Case report  Indonesia

Intravitreal Onchocerca sp. With Concomitant Cerebral MRI Lesion: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.952921  

Case report  Japan

Retrieval of a Displaced Mandibular Tooth Fragment From the Floor of the Mouth Using a Combined Navigation ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.953836  

Case report  Georgia

A 35-Year-Old Woman Presenting With Life-Threatening Fulminant Myocarditis After COVID-19: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.953506  

Case report  Belgium

A Case of Pneumocephalus on Valsalva Maneuver: A Case Report and Literature Review

Am J Case Rep In Press; DOI: 10.12659/AJCR.953059  

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923