Congenital defects / diseases
06 Jul 2026 : Case report 
Diagnostic Challenge of Sequential Appendicitis in a Patient With Appendiceal Duplication: A Case Report
Adonys Hidalgo López 
, Héctor Rafael Ochomogo García, Juan Sebastian Asteguieta Castillo, Carlos Diaz Q
DOI: 10.12659/AJCR.953106
Am J Case Rep 2026; 27:e953106
318 266 0
06 Jul 2026 : Case report
Diagnostic Challenge of Sequential Appendicitis in a Patient With Appendiceal Duplication: A Case Report
Adonys Hidalgo López , Héctor Rafael Ochomogo García, Juan Sebastian Asteguieta Castillo, Carlos Diaz Q
DOI: 10.12659/AJCR.953106
Am J Case Rep 2026; 27:e953106
318 266 0
22 Jun 2026 : Case report 
Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report
Khaled Abdulwahab Amer , Hanan Hassan Almalki , Faisal Saud Alhudaithi
DOI: 10.12659/AJCR.952887
Am J Case Rep 2026; 27:e952887
458 536 0
22 Jun 2026 : Case report
Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report
Khaled Abdulwahab Amer , Hanan Hassan Almalki , Faisal Saud Alhudaithi
DOI: 10.12659/AJCR.952887
Am J Case Rep 2026; 27:e952887
458 536 0
23 Jul 2026 : Case report 
A Novel Presentation of Hemodynamic Decompensation With Cardiogenic Shock in a Patient With Partial Anomalous Pulmonary Venous Return
Wafaa Mansour, Jamil Qiqieh , Johnathan Stephan , Sara Gezahegn , Fadi Ayoub, Dawit K. Worku , Alehegn Gelaye
DOI: 10.12659/AJCR.953243
Am J Case Rep 2026; 27:e953243
303 238 0
23 Jul 2026 : Case report
A Novel Presentation of Hemodynamic Decompensation With Cardiogenic Shock in a Patient With Partial Anomalous Pulmonary Venous Return
Wafaa Mansour, Jamil Qiqieh , Johnathan Stephan , Sara Gezahegn , Fadi Ayoub, Dawit K. Worku , Alehegn Gelaye
DOI: 10.12659/AJCR.953243
Am J Case Rep 2026; 27:e953243
303 238 0
07 Jul 2026 : Case report
A Communicating Anomalous Vessel Between the Brachial and Radial Artery: A Cadaver Case Report
Joseph N. Henen, Miles M. Fearn, Grace A. Arcuri, Lindsey Davidson, Anika Banerjee, Adel Maklad
DOI: 10.12659/AJCR.952679
Am J Case Rep 2026; 27:e952679
315 364 0
07 Jul 2026 : Case report
A Communicating Anomalous Vessel Between the Brachial and Radial Artery: A Cadaver Case Report
Joseph N. Henen, Miles M. Fearn, Grace A. Arcuri, Lindsey Davidson, Anika Banerjee, Adel Maklad
DOI: 10.12659/AJCR.952679
Am J Case Rep 2026; 27:e952679
315 364 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
561 846 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
561 846 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
526 908 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
526 908 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
559 832 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
559 832 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
837 2,007 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
837 2007 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
532 748 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
532 748 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
685 1,019 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
685 1019 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
896 3,004 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
896 3004 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
713 1,018 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
713 1018 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
467 718 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
467 718 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
445 748 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
445 748 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
654 1,445 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
654 1445 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
656 926 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
656 926 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
557 885 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
557 885 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
666 1,526 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
666 1526 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
1,161 93 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
1161 93 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
572 1,130 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
572 1130 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
493 935 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
493 935 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
1,652 3,460 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
1652 3460 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
1,970 2,895 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
1970 2895 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
767 1,368 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
767 1368 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
757 1,040 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
757 1040 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952909
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950868
Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.952931
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