Congenital defects / diseases
21 May 2026 : Case report 
A Singleton Male Infant With Aplasia Cutis Congenita Type V Associated With Single Umbilical Artery and Atrial Septal Defect: A Case Report
Jesús J. Martínez-García 
, Lourdes Elizabeth Zamudio-García, Melissa Martínez-Félix, Uriel A. Angulo-Zamudio, Hector Flores-Villaseñor , Erika Acosta-Smith , Adrian Canizalez-Román , Nidia León-Sicairos
DOI: 10.12659/AJCR.951885
Am J Case Rep 2026; 27:e951885
235 268 0
21 May 2026 : Case report
A Singleton Male Infant With Aplasia Cutis Congenita Type V Associated With Single Umbilical Artery and Atrial Septal Defect: A Case Report
Jesús J. Martínez-García , Lourdes Elizabeth Zamudio-García, Melissa Martínez-Félix, Uriel A. Angulo-Zamudio, Hector Flores-Villaseñor , Erika Acosta-Smith , Adrian Canizalez-Román , Nidia León-Sicairos
DOI: 10.12659/AJCR.951885
Am J Case Rep 2026; 27:e951885
235 268 0
19 May 2026 : Case report 
Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication
Mohammed Shahab Uddin , Maan Albehair , Fayez Nashi Motlaq Alshammari , Amr Esmail, Khaled Shafeen , Abdullah Bin Hassan , Hana Bawazier
DOI: 10.12659/AJCR.952024
Am J Case Rep 2026; 27:e952024
266 369 0
19 May 2026 : Case report
Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication
Mohammed Shahab Uddin , Maan Albehair , Fayez Nashi Motlaq Alshammari , Amr Esmail, Khaled Shafeen , Abdullah Bin Hassan , Hana Bawazier
DOI: 10.12659/AJCR.952024
Am J Case Rep 2026; 27:e952024
266 369 0
11 May 2026 : Case report 
Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity
Weiwei Zeng, Sheng Lin, Junge Zheng, Zheng Zheng, Cunhai Li, Guihua Yang, Jilong Yao, Shan Duan
DOI: 10.12659/AJCR.951645
Am J Case Rep 2026; 27:e951645
297 332 0
11 May 2026 : Case report
Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity
Weiwei Zeng, Sheng Lin, Junge Zheng, Zheng Zheng, Cunhai Li, Guihua Yang, Jilong Yao, Shan Duan
DOI: 10.12659/AJCR.951645
Am J Case Rep 2026; 27:e951645
297 332 0
10 May 2026 : Case report 
Culture-Negative Infective Endocarditis Presenting as ANCA-Positive Glomerulonephritis
Mohammad Eshaq Kyhan , Adam M. Bressler
DOI: 10.12659/AJCR.952252
Am J Case Rep 2026; 27:e952252
537 683 0
10 May 2026 : Case report
Culture-Negative Infective Endocarditis Presenting as ANCA-Positive Glomerulonephritis
Mohammad Eshaq Kyhan , Adam M. Bressler
DOI: 10.12659/AJCR.952252
Am J Case Rep 2026; 27:e952252
537 683 0
28 Apr 2026 : Case report 
Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique
Živojin S. Jonjev , Aleksandar M. Milosavljevic , Mirko Todić , Jovan Rajić, Kristina Jonjev
DOI: 10.12659/AJCR.951886
Am J Case Rep 2026; 27:e951886
258 307 0
28 Apr 2026 : Case report
Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique
Živojin S. Jonjev , Aleksandar M. Milosavljevic , Mirko Todić , Jovan Rajić, Kristina Jonjev
DOI: 10.12659/AJCR.951886
Am J Case Rep 2026; 27:e951886
258 307 0
25 Apr 2026 : Case report 
Unilateral Linguofacial Trunk of the External Carotid Artery: A Cadaveric Case Report From Myanmar
Thazin , Muhammad Danial Che Ramli , Che Mohd Nasril Che Mohd Nassir , Zaw Myo Hein
DOI: 10.12659/AJCR.951855
Am J Case Rep 2026; 27:e951855
321 464 0
25 Apr 2026 : Case report
Unilateral Linguofacial Trunk of the External Carotid Artery: A Cadaveric Case Report From Myanmar
Thazin , Muhammad Danial Che Ramli , Che Mohd Nasril Che Mohd Nassir , Zaw Myo Hein
DOI: 10.12659/AJCR.951855
Am J Case Rep 2026; 27:e951855
321 464 0
24 Apr 2026 : Case report
Diagnostic and Treatment Strategies for Adult Non-Ossifying Fibromas: A Case Report and Literature Review
Zhibin Zhao, Jiawei Li, Shaoke Wu
DOI: 10.12659/AJCR.951665
Am J Case Rep 2026; 27:e951665
452 656 0
24 Apr 2026 : Case report
Diagnostic and Treatment Strategies for Adult Non-Ossifying Fibromas: A Case Report and Literature Review
Zhibin Zhao, Jiawei Li, Shaoke Wu
DOI: 10.12659/AJCR.951665
Am J Case Rep 2026; 27:e951665
452 656 0
18 Apr 2026 : Case report 
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Maisa Manasar-Dyrbuś , Rafał Stojko , Monika Paul-Samojedny , Ewa Winkowska , Jakub Staniczek
DOI: 10.12659/AJCR.951250
Am J Case Rep 2026; 27:e951250
459 544 0
18 Apr 2026 : Case report
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Maisa Manasar-Dyrbuś , Rafał Stojko , Monika Paul-Samojedny , Ewa Winkowska , Jakub Staniczek
DOI: 10.12659/AJCR.951250
Am J Case Rep 2026; 27:e951250
459 544 0
17 Apr 2026 : Case report
Bronchoscopy-Guided Bronchial Blocker for Acute Right Pulmonary Artery Hemorrhage in an Infant With Berry Syndrome: A Case Report
Yi Yang, Feizhou Zhang, Huafeng Wang, Jiangmei Wang, Li Yang, Xiaofen Tao , Lei Wu
DOI: 10.12659/AJCR.950257
Am J Case Rep 2026; 27:e950257
258 368 0
17 Apr 2026 : Case report
Bronchoscopy-Guided Bronchial Blocker for Acute Right Pulmonary Artery Hemorrhage in an Infant With Berry Syndrome: A Case Report
Yi Yang, Feizhou Zhang, Huafeng Wang, Jiangmei Wang, Li Yang, Xiaofen Tao , Lei Wu
DOI: 10.12659/AJCR.950257
Am J Case Rep 2026; 27:e950257
258 368 0
08 Apr 2026 : Case report
A 9-Year-Old Boy With Strabismus, Anisometropic Amblyopia, and Myopia in the Left Eye, Associated With Myelinated Retinal Nerve Fibers Syndrome, Managed With Multimodal Therapy
Yujiao Zhang
DOI: 10.12659/AJCR.950743
Am J Case Rep 2026; 27:e950743
231 383 0
08 Apr 2026 : Case report
A 9-Year-Old Boy With Strabismus, Anisometropic Amblyopia, and Myopia in the Left Eye, Associated With Myelinated Retinal Nerve Fibers Syndrome, Managed With Multimodal Therapy
Yujiao Zhang
DOI: 10.12659/AJCR.950743
Am J Case Rep 2026; 27:e950743
231 383 0
17 Mar 2026 : Case report 
Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome
Iman Dwi Winanto , Jefryan Sofyan , Tommy Mandagi , Ricovially Davya Guci , Abdurrahman Mouza , Arya Tjipta Prananda
DOI: 10.12659/AJCR.951696
Am J Case Rep 2026; 27:e951696
450 894 0
17 Mar 2026 : Case report
Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome
Iman Dwi Winanto , Jefryan Sofyan , Tommy Mandagi , Ricovially Davya Guci , Abdurrahman Mouza , Arya Tjipta Prananda
DOI: 10.12659/AJCR.951696
Am J Case Rep 2026; 27:e951696
450 894 0
11 Mar 2026 : Case report
Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report
Osama A. Abdulrahman, Mohammad F. Babgi, Jameel T. Alrefai, Atiqah H. Alfahmi, Shaimaa H. Oraif, Nada Bakhsh, Fatma Aboul-Enein , Ahemd M. Samman
DOI: 10.12659/AJCR.951421
Am J Case Rep 2026; 27:e951421
438 515 0
11 Mar 2026 : Case report
Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report
Osama A. Abdulrahman, Mohammad F. Babgi, Jameel T. Alrefai, Atiqah H. Alfahmi, Shaimaa H. Oraif, Nada Bakhsh, Fatma Aboul-Enein , Ahemd M. Samman
DOI: 10.12659/AJCR.951421
Am J Case Rep 2026; 27:e951421
438 515 0
08 Mar 2026 : Case report
Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series
Oliwia Wicik, Maksymilian Baryła , Jacek Pliszczyński , Aleksandra Popławska-Ferenc
DOI: 10.12659/AJCR.949545
Am J Case Rep 2026; 27:e949545
355 504 0
08 Mar 2026 : Case report
Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series
Oliwia Wicik, Maksymilian Baryła , Jacek Pliszczyński , Aleksandra Popławska-Ferenc
DOI: 10.12659/AJCR.949545
Am J Case Rep 2026; 27:e949545
355 504 0
20 Feb 2026 : Case report
Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant
Faisal Al-Qahtani, Motazz A. Alarfaj, Abdulelah Al-Abdullah
DOI: 10.12659/AJCR.951257
Am J Case Rep 2026; 27:e951257
474 744 0
20 Feb 2026 : Case report
Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant
Faisal Al-Qahtani, Motazz A. Alarfaj, Abdulelah Al-Abdullah
DOI: 10.12659/AJCR.951257
Am J Case Rep 2026; 27:e951257
474 744 0
01 Jan 2026 : Case report
Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening
Lujain K. Halawani
DOI: 10.12659/AJCR.950665
Am J Case Rep 2026; 27:e950665
887 90 0
01 Jan 2026 : Case report
Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening
Lujain K. Halawani
DOI: 10.12659/AJCR.950665
Am J Case Rep 2026; 27:e950665
887 90 0
06 Feb 2026 : Case report
Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report
Jes M. Sanders , Matthew Harris , Juan Carlos Caicedo, Steven J. Schwulst
DOI: 10.12659/AJCR.951532
Am J Case Rep 2026; 27:e951532
395 698 0
06 Feb 2026 : Case report
Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report
Jes M. Sanders , Matthew Harris , Juan Carlos Caicedo, Steven J. Schwulst
DOI: 10.12659/AJCR.951532
Am J Case Rep 2026; 27:e951532
395 698 0
05 Feb 2026 : Case report
Paraduodenal Hernia With Intestinal Obstruction During Pregnancy
Yuhang You, Fangxin Wan, Guodong Song
DOI: 10.12659/AJCR.951298
Am J Case Rep 2026; 27:e951298
331 603 0
05 Feb 2026 : Case report
Paraduodenal Hernia With Intestinal Obstruction During Pregnancy
Yuhang You, Fangxin Wan, Guodong Song
DOI: 10.12659/AJCR.951298
Am J Case Rep 2026; 27:e951298
331 603 0
28 Jan 2026 : Case report 
Fractional CO₂ Laser (SCAR3 Scanner) for a Hypertrophic Retracting Cleft Lip Scar: A Case Report
Giuseppe Scarcella , Laura Pieri , Irene Fusco , Anna Sara Gervasi, Francesca Madeddu , Tiziano Zingoni
DOI: 10.12659/AJCR.950607
Am J Case Rep 2026; 27:e950607
1,098 2,219 0
28 Jan 2026 : Case report
Fractional CO₂ Laser (SCAR3 Scanner) for a Hypertrophic Retracting Cleft Lip Scar: A Case Report
Giuseppe Scarcella , Laura Pieri , Irene Fusco , Anna Sara Gervasi, Francesca Madeddu , Tiziano Zingoni
DOI: 10.12659/AJCR.950607
Am J Case Rep 2026; 27:e950607
1098 2219 0
28 Jan 2026 : Case report 
Multilevel Laminectomy for Lumbar Spinal Stenosis With Low Back Pain in Achondroplasia: A Case Report
Stylianos Kapetanakis , Mikail Chatzivasiliadis , Christos Koukos , Paschalis Tsioulas, Christos Siopis, Nikolaos Gkantsinikoudis
DOI: 10.12659/AJCR.950290
Am J Case Rep 2026; 27:e950290
1,362 1,796 0
28 Jan 2026 : Case report
Multilevel Laminectomy for Lumbar Spinal Stenosis With Low Back Pain in Achondroplasia: A Case Report
Stylianos Kapetanakis , Mikail Chatzivasiliadis , Christos Koukos , Paschalis Tsioulas, Christos Siopis, Nikolaos Gkantsinikoudis
DOI: 10.12659/AJCR.950290
Am J Case Rep 2026; 27:e950290
1362 1796 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
536 925 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
536 925 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
556 703 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
556 703 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
535 933 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
535 933 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
540 813 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
540 813 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
622 993 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
622 993 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
663 1,053 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
663 1053 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950290
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950607
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950985
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