Congenital defects / diseases

15 Jan 2026 : Case report
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype
Paskal Cullufi
, Virtut Velmishi
, Ermira Dervishi, Sonila Tomori
, Gladiola Hoxha, Eda Jazexhiu-Postoli
, Entela Basha
, Aferdita Kumaraku Tako, Mirela Tabaku
DOI: 10.12659/AJCR.948999
Am J Case Rep 2026; 27:e948999
877 1,616 0

15 Jan 2026 : Case report
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype
Paskal Cullufi
, Virtut Velmishi
, Ermira Dervishi, Sonila Tomori
, Gladiola Hoxha, Eda Jazexhiu-Postoli
, Entela Basha
, Aferdita Kumaraku Tako, Mirela Tabaku
DOI: 10.12659/AJCR.948999
Am J Case Rep 2026; 27:e948999
877 1616 0

13 Jan 2026 : Case report
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

13 Jan 2026 : Case report
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

31 Dec 2025 : Case report
Anesthetic Management of a 32-Year-Old Woman Undergoing Laparoscopic Gynecological Surgery With Prior Fontan Repair for a Complex Congenital Heart Defect
Stefano Catarci
, Bruno Antonio Zanfini, Gennaro Canistro
, Giovanni Maria Maddaloni, Pietro Paolo Giuri, Gian Luigi Gonnella, Luciano Frassanito
, Mariano Ciancia, Emanuele Capone, Paolo Lazzaro, Gaetano Draisci
DOI: 10.12659/AJCR.950027
Am J Case Rep 2025; 26:e950027
917 1,737 0

31 Dec 2025 : Case report
Anesthetic Management of a 32-Year-Old Woman Undergoing Laparoscopic Gynecological Surgery With Prior Fontan Repair for a Complex Congenital Heart Defect
Stefano Catarci
, Bruno Antonio Zanfini, Gennaro Canistro
, Giovanni Maria Maddaloni, Pietro Paolo Giuri, Gian Luigi Gonnella, Luciano Frassanito
, Mariano Ciancia, Emanuele Capone, Paolo Lazzaro, Gaetano Draisci
DOI: 10.12659/AJCR.950027
Am J Case Rep 2025; 26:e950027
917 1737 0

24 Dec 2025 : Case report
Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report
Alexandra Arvanitaki
, Marios Georgios Bantidos
, Theodora Zaglavara
, Lydia Kalogeropoulou
, Athanasios Samaras
, Athina Nasoufidou
, Efstratios Karagiannidis
, Georgios Stavropoulos
, Apostolos Tzikas
, Nikolaos Fragakis
DOI: 10.12659/AJCR.949879
Am J Case Rep 2025; 26:e949879
817 1,449 0

24 Dec 2025 : Case report
Bronchial Arteriovenous Malformation Detection Prior to Catheter Ablation for Paroxysmal Atrial Flutter and Fibrillation: A Case Report
Alexandra Arvanitaki
, Marios Georgios Bantidos
, Theodora Zaglavara
, Lydia Kalogeropoulou
, Athanasios Samaras
, Athina Nasoufidou
, Efstratios Karagiannidis
, Georgios Stavropoulos
, Apostolos Tzikas
, Nikolaos Fragakis
DOI: 10.12659/AJCR.949879
Am J Case Rep 2025; 26:e949879
817 1449 0

21 Nov 2025 : Case report
Left-Sided Perforated Appendicitis in an Elderly Man with Intestinal Malrotation: A Case Report
Jose Samaniego-Burneo
, Jordan Llerena-Velastegui
, 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

21 Nov 2025 : Case report
Left-Sided Perforated Appendicitis in an Elderly Man with Intestinal Malrotation: A Case Report
Jose Samaniego-Burneo
, Jordan Llerena-Velastegui
, Alberto Gordillo-Calero, Brenda Santamaria-Penafiel, Natalia Lopez-Yepez
DOI: 10.12659/AJCR.949960
Am J Case Rep 2025; 26:e949960
876 1418 0

01 Dec 2025 : Case report
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

01 Dec 2025 : Case report
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

13 Nov 2025 : Case report
Use of Bonebridge Implant in a Child with Congenital Cholesteatoma: A Case Report
Katarzyna B. Cywka
, Emilia A. Czaplicka
, Piotr H. Skarżyński
DOI: 10.12659/AJCR.949341
Am J Case Rep 2025; 26:e949341
791 1,477 0

13 Nov 2025 : Case report
Use of Bonebridge Implant in a Child with Congenital Cholesteatoma: A Case Report
Katarzyna B. Cywka
, Emilia A. Czaplicka
, Piotr H. Skarżyński
DOI: 10.12659/AJCR.949341
Am J Case Rep 2025; 26:e949341
791 1477 0

16 Nov 2025 : Case report
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
, Huamei Ma
DOI: 10.12659/AJCR.948160
Am J Case Rep 2025; 26:e948160
698 2,544 0

16 Nov 2025 : Case report
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
, Huamei Ma
DOI: 10.12659/AJCR.948160
Am J Case Rep 2025; 26:e948160
698 2544 0

11 Nov 2025 : Case report
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

11 Nov 2025 : Case report
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

09 Oct 2025 : Case report
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

09 Oct 2025 : Case report
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

14 Sep 2025 : Case report
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

14 Sep 2025 : Case report
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

05 Sep 2025 : Case report
Management of Unilateral Hearing Loss in a 14-Year-Old with Internal Auditory Canal Duplication Using a Bonebridge Bone Conduction Implant
Anna K. Piecuch
, Katarzyna B. Cywka
, Piotr H. Skarżyński
, Henryk Skarżyński
DOI: 10.12659/AJCR.947791
Am J Case Rep 2025; 26:e947791
525 2,048 0

05 Sep 2025 : Case report
Management of Unilateral Hearing Loss in a 14-Year-Old with Internal Auditory Canal Duplication Using a Bonebridge Bone Conduction Implant
Anna K. Piecuch
, Katarzyna B. Cywka
, Piotr H. Skarżyński
, Henryk Skarżyński
DOI: 10.12659/AJCR.947791
Am J Case Rep 2025; 26:e947791
525 2048 0

02 Sep 2025 : Case report
Ex-Utero Intrapartum Treatment for a Fetal Cervical Teratoma with Mediastinal Extension: A Case Report
Madison Crew
, Caitlin R. Eason
, Courtney Breckenfelder
, James Jaggers, Sarah A. Gitomer
, 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

02 Sep 2025 : Case report
Ex-Utero Intrapartum Treatment for a Fetal Cervical Teratoma with Mediastinal Extension: A Case Report
Madison Crew
, Caitlin R. Eason
, Courtney Breckenfelder
, James Jaggers, Sarah A. Gitomer
, Regina M. Reynolds, Michael V. Zaretsky, S. Christopher Derderian
DOI: 10.12659/AJCR.949318
Am J Case Rep 2025; 26:e949318
572 1051 0

31 Jul 2025 : Case report
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

31 Jul 2025 : Case report
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

29 Jul 2025 : Case report
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
, Chao Liu
DOI: 10.12659/AJCR.948098
Am J Case Rep 2025; 26:e948098
728 1,514 0

29 Jul 2025 : Case report
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
, Chao Liu
DOI: 10.12659/AJCR.948098
Am J Case Rep 2025; 26:e948098
728 1514 0

13 Jul 2025 : Case report
Adult Acute Appendicitis Complicated by Intestinal Malrotation: A Case Analysis
Daniel Krstic
, Dimitrios Chatziisaak
, Strahinja Konstantinović
, Luca Benigno, Christopher Soll, Magdalena Biraima
DOI: 10.12659/AJCR.949194
Am J Case Rep 2025; 26:e949194
940 2,200 0

13 Jul 2025 : Case report
Adult Acute Appendicitis Complicated by Intestinal Malrotation: A Case Analysis
Daniel Krstic
, Dimitrios Chatziisaak
, Strahinja Konstantinović
, Luca Benigno, Christopher Soll, Magdalena Biraima
DOI: 10.12659/AJCR.949194
Am J Case Rep 2025; 26:e949194
940 2200 0

03 Jul 2025 : Case report
Adult Presentation of Anorectal Malformation: A 19-Year-Old Woman with a Delayed Diagnosis of Recto-Vestibular Fistula
Brian Osiemo Bichanga
, Francisca Syovata Munyalo, Caroline K. Mwende
, Yvonne A. Olwang, Sarah Okebe
, Joel Lessan, Peter M. Mwika
DOI: 10.12659/AJCR.948656
Am J Case Rep 2025; 26:e948656
1,196 2,840 0

03 Jul 2025 : Case report
Adult Presentation of Anorectal Malformation: A 19-Year-Old Woman with a Delayed Diagnosis of Recto-Vestibular Fistula
Brian Osiemo Bichanga
, Francisca Syovata Munyalo, Caroline K. Mwende
, Yvonne A. Olwang, Sarah Okebe
, Joel Lessan, Peter M. Mwika
DOI: 10.12659/AJCR.948656
Am J Case Rep 2025; 26:e948656
1196 2840 0

30 Jun 2025 : Case report
Incidental Pelvic Ectopic Kidney Discovery During Pre-TAVR Imaging: Implications for Surgical Planning
Prem Patel, Irina Radu, Nikolaos Kakouros
DOI: 10.12659/AJCR.947068
Am J Case Rep 2025; 26:e947068
951 1,642 0

30 Jun 2025 : Case report
Incidental Pelvic Ectopic Kidney Discovery During Pre-TAVR Imaging: Implications for Surgical Planning
Prem Patel, Irina Radu, Nikolaos Kakouros
DOI: 10.12659/AJCR.947068
Am J Case Rep 2025; 26:e947068
951 1642 0

28 Jun 2025 : Case report
Paradoxical Embolism Through Patent Foramen Ovale: A Case Report of Thrombus in Transit
Shin Yee Lok
, Siobhan Lockwood, Timothy K. Yang, Yi Chen
DOI: 10.12659/AJCR.946997
Am J Case Rep 2025; 26:e946997
1,326 4,932 0

28 Jun 2025 : Case report
Paradoxical Embolism Through Patent Foramen Ovale: A Case Report of Thrombus in Transit
Shin Yee Lok
, Siobhan Lockwood, Timothy K. Yang, Yi Chen
DOI: 10.12659/AJCR.946997
Am J Case Rep 2025; 26:e946997
1326 4932 0

30 Apr 2025 : Case report
Insights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report
Fatima Zahra
, Nathania Tjuwatja
, Setyorini Irianti, Putri Nadhira Adinda Adriansyah
DOI: 10.12659/AJCR.946041
Am J Case Rep 2025; 26:e946041
1,116 1,764 0

30 Apr 2025 : Case report
Insights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report
Fatima Zahra
, Nathania Tjuwatja
, Setyorini Irianti, Putri Nadhira Adinda Adriansyah
DOI: 10.12659/AJCR.946041
Am J Case Rep 2025; 26:e946041
1116 1764 0

03 May 2025 : Case report
Psoas Quartus and Femoral Nerve Branching: A Case Report and Potential Clinical Implications
Joshua Wang
, Chun Yeung, Eric Chang, Jason M. Bourke
DOI: 10.12659/AJCR.945927
Am J Case Rep 2025; 26:e945927
928 2,724 0

03 May 2025 : Case report
Psoas Quartus and Femoral Nerve Branching: A Case Report and Potential Clinical Implications
Joshua Wang
, Chun Yeung, Eric Chang, Jason M. Bourke
DOI: 10.12659/AJCR.945927
Am J Case Rep 2025; 26:e945927
928 2724 0

22 Mar 2025 : Case report
Challenges of Duplicated Portal Vein in Elective Laparoscopic Cholecystectomy: A Case Report
Aleksandra Frankowska, Konrad Kobryń
, Paweł Rykowski
, Krzysztof Gibiński
, Michał Grąt
DOI: 10.12659/AJCR.946151
Am J Case Rep 2025; 26:e946151
1,442 2,324 0

22 Mar 2025 : Case report
Challenges of Duplicated Portal Vein in Elective Laparoscopic Cholecystectomy: A Case Report
Aleksandra Frankowska, Konrad Kobryń
, Paweł Rykowski
, Krzysztof Gibiński
, Michał Grąt
DOI: 10.12659/AJCR.946151
Am J Case Rep 2025; 26:e946151
1442 2324 0

16 Apr 2025 : Case report
Left Main Coronary Artery Fistula Presenting as Heart Failure: A Case Report
Teresa Bernardes, Shivangi Patel, Alexander Kong
, Jonathan Ortiz, Yahaira Ortiz, Stephen Carlan
DOI: 10.12659/AJCR.947122
Am J Case Rep 2025; 26:e947122
1,222 2,615 0

16 Apr 2025 : Case report
Left Main Coronary Artery Fistula Presenting as Heart Failure: A Case Report
Teresa Bernardes, Shivangi Patel, Alexander Kong
, Jonathan Ortiz, Yahaira Ortiz, Stephen Carlan
DOI: 10.12659/AJCR.947122
Am J Case Rep 2025; 26:e947122
1222 2615 0

30 Mar 2025 : Case report
Multidisciplinary Management of Pregnancy in Bladder Exstrophy: A Case Report
Marija Batkoska
, Polona Pečlin
DOI: 10.12659/AJCR.946782
Am J Case Rep 2025; 26:e946782
1,098 2,452 0

30 Mar 2025 : Case report
Multidisciplinary Management of Pregnancy in Bladder Exstrophy: A Case Report
Marija Batkoska
, Polona Pečlin
DOI: 10.12659/AJCR.946782
Am J Case Rep 2025; 26:e946782
1098 2452 0

10 Mar 2025 : Case report
Imaging and Diagnostic Challenges in an 11-Year-Old Girl with Vaginal Agenesis: A Case Report
Betari Dhira Paramita
, Dalri Muhammad Suhartomo
, Mochamad Rizkar Arev Sukarsa, Andi Rinaldi, Aria Prasetya Ma'soem, Putri Nadhira Adinda Adriansyah
DOI: 10.12659/AJCR.944772
Am J Case Rep 2025; 26:e944772
1,256 2,610 0

10 Mar 2025 : Case report
Imaging and Diagnostic Challenges in an 11-Year-Old Girl with Vaginal Agenesis: A Case Report
Betari Dhira Paramita
, Dalri Muhammad Suhartomo
, Mochamad Rizkar Arev Sukarsa, Andi Rinaldi, Aria Prasetya Ma'soem, Putri Nadhira Adinda Adriansyah
DOI: 10.12659/AJCR.944772
Am J Case Rep 2025; 26:e944772
1256 2610 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953059
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