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Congenital defects / diseases

#953517

03 Nov 2026 : Case report  China

Klippel-Trenaunay Syndrome Prenatal Diagnosis: Two Case Reports and a Review of the Literature

HuiTing Fang, YuJie Li, Jin Zhang, Jun Xiao

DOI: 10.12659/AJCR.953517

Am J Case Rep 2026; 27:e953517

339 110 0

#953517

03 Nov 2026 : Case report  China

Klippel-Trenaunay Syndrome Prenatal Diagnosis: Two Case Reports and a Review of the Literature

HuiTing Fang, YuJie Li, Jin Zhang, Jun Xiao

DOI: 10.12659/AJCR.953517

Am J Case Rep 2026; 27:e953517

339 110 0

#953540

20 Sep 2026 : Case report  Ecuador

Eisenmenger Syndrome After Delayed Atrial Septal Defect Closure at High Altitude: A Case Report

Angelica Guaman-Gavilema ORCID logo, Domenica Villacres-Alarcon ORCID logo, Andres Arteaga-Arellano ORCID logo, Roberto Arregui-Costales, Jordan Llerena-Velastegui ORCID logo, Ruth Jimbo-Sotomayor ORCID logo, Xavier Sanchez ORCID logo

DOI: 10.12659/AJCR.953540

Am J Case Rep 2026; 27:e953540

663 767 0

#953540

20 Sep 2026 : Case report  Ecuador

Eisenmenger Syndrome After Delayed Atrial Septal Defect Closure at High Altitude: A Case Report

Angelica Guaman-Gavilema ORCID logo, Domenica Villacres-Alarcon ORCID logo, Andres Arteaga-Arellano ORCID logo, Roberto Arregui-Costales, Jordan Llerena-Velastegui ORCID logo, Ruth Jimbo-Sotomayor ORCID logo, Xavier Sanchez ORCID logo

DOI: 10.12659/AJCR.953540

Am J Case Rep 2026; 27:e953540

663 767 0

#952213

16 Sep 2026 : Case report  Indonesia

Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population

Nur Farhanah ORCID logo, Jessica Novia Hadiyanto ORCID logo, Sefri Noventi Sofia ORCID logo, Tania Tedjo Minuljo, Tri Indah Winarni ORCID logo

DOI: 10.12659/AJCR.952213

Am J Case Rep 2026; 27:e952213

601 632 0

#952213

16 Sep 2026 : Case report  Indonesia

Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population

Nur Farhanah ORCID logo, Jessica Novia Hadiyanto ORCID logo, Sefri Noventi Sofia ORCID logo, Tania Tedjo Minuljo, Tri Indah Winarni ORCID logo

DOI: 10.12659/AJCR.952213

Am J Case Rep 2026; 27:e952213

601 632 0

#952912

26 Aug 2026 : Case report  China

Perioperative Airway Management in Treacher Collins Syndrome With Obstructive Sleep Apnea: A Case Report

Yaqiong Jiang, Zhikeng Deng, Bo Yao, Xiaohua Liang, Zhaojun Qin

DOI: 10.12659/AJCR.952912

Am J Case Rep 2026; 27:e952912

740 1,036 0

#952912

26 Aug 2026 : Case report  China

Perioperative Airway Management in Treacher Collins Syndrome With Obstructive Sleep Apnea: A Case Report

Yaqiong Jiang, Zhikeng Deng, Bo Yao, Xiaohua Liang, Zhaojun Qin

DOI: 10.12659/AJCR.952912

Am J Case Rep 2026; 27:e952912

740 1036 0

#952577

05 Aug 2026 : Case report  China

Chest Pain Due to Anomalous Origin of the Left Circumflex Artery From the Opposite Sinus of Valsalva in a 70-Year-Old Woman

Tian Luo, Kang Luo, JunBing Lin, Qiang Huang

DOI: 10.12659/AJCR.952577

Am J Case Rep 2026; 27:e952577

662 962 0

#952577

05 Aug 2026 : Case report  China

Chest Pain Due to Anomalous Origin of the Left Circumflex Artery From the Opposite Sinus of Valsalva in a 70-Year-Old Woman

Tian Luo, Kang Luo, JunBing Lin, Qiang Huang

DOI: 10.12659/AJCR.952577

Am J Case Rep 2026; 27:e952577

662 962 0

#953243

23 Jul 2026 : Case report  USA

A Novel Presentation of Hemodynamic Decompensation With Cardiogenic Shock in a Patient With Partial Anomalous Pulmonary Venous Return

Wafaa Mansour, Jamil Qiqieh ORCID logo, Johnathan Stephan ORCID logo, Sara Gezahegn ORCID logo, Fadi Ayoub, Dawit K. Worku ORCID logo, Alehegn Gelaye ORCID logo

DOI: 10.12659/AJCR.953243

Am J Case Rep 2026; 27:e953243

621 998 0

#953243

23 Jul 2026 : Case report  USA

A Novel Presentation of Hemodynamic Decompensation With Cardiogenic Shock in a Patient With Partial Anomalous Pulmonary Venous Return

Wafaa Mansour, Jamil Qiqieh ORCID logo, Johnathan Stephan ORCID logo, Sara Gezahegn ORCID logo, Fadi Ayoub, Dawit K. Worku ORCID logo, Alehegn Gelaye ORCID logo

DOI: 10.12659/AJCR.953243

Am J Case Rep 2026; 27:e953243

621 998 0

#952679

07 Jul 2026 : Case report  USA

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

616 1,015 0

#952679

07 Jul 2026 : Case report  USA

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

616 1015 0

#953106

06 Jul 2026 : Case report  Guatemala

Diagnostic Challenge of Sequential Appendicitis in a Patient With Appendiceal Duplication: A Case Report

Adonys Hidalgo López ORCID logo, Héctor Rafael Ochomogo García, Juan Sebastian Asteguieta Castillo, Carlos Diaz Q ORCID logo

DOI: 10.12659/AJCR.953106

Am J Case Rep 2026; 27:e953106

631 967 0

#953106

06 Jul 2026 : Case report  Guatemala

Diagnostic Challenge of Sequential Appendicitis in a Patient With Appendiceal Duplication: A Case Report

Adonys Hidalgo López ORCID logo, Héctor Rafael Ochomogo García, Juan Sebastian Asteguieta Castillo, Carlos Diaz Q ORCID logo

DOI: 10.12659/AJCR.953106

Am J Case Rep 2026; 27:e953106

631 967 0

#952887

22 Jun 2026 : Case report  Saudi Arabia

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 ORCID logo, Hanan Hassan Almalki ORCID logo, Faisal Saud Alhudaithi

DOI: 10.12659/AJCR.952887

Am J Case Rep 2026; 27:e952887

723 1,251 0

#952887

22 Jun 2026 : Case report  Saudi Arabia

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 ORCID logo, Hanan Hassan Almalki ORCID logo, Faisal Saud Alhudaithi

DOI: 10.12659/AJCR.952887

Am J Case Rep 2026; 27:e952887

723 1251 0

#951885

21 May 2026 : Case report  Mexico

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 ORCID logo, Lourdes Elizabeth Zamudio-García, Melissa Martínez-Félix, Uriel A. Angulo-Zamudio, Hector Flores-Villaseñor ORCID logo, Erika Acosta-Smith ORCID logo, Adrian Canizalez-Román ORCID logo, Nidia León-Sicairos ORCID logo

DOI: 10.12659/AJCR.951885

Am J Case Rep 2026; 27:e951885

819 1,477 0

#951885

21 May 2026 : Case report  Mexico

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 ORCID logo, Lourdes Elizabeth Zamudio-García, Melissa Martínez-Félix, Uriel A. Angulo-Zamudio, Hector Flores-Villaseñor ORCID logo, Erika Acosta-Smith ORCID logo, Adrian Canizalez-Román ORCID logo, Nidia León-Sicairos ORCID logo

DOI: 10.12659/AJCR.951885

Am J Case Rep 2026; 27:e951885

819 1477 0

#952024

19 May 2026 : Case report  Saudi Arabia

Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication

Mohammed Shahab Uddin ORCID logo, Maan Albehair ORCID logo, Fayez Nashi Motlaq Alshammari ORCID logo, Amr Esmail, Khaled Shafeen ORCID logo, Abdullah Bin Hassan ORCID logo, Hana Bawazier

DOI: 10.12659/AJCR.952024

Am J Case Rep 2026; 27:e952024

833 1,696 0

#952024

19 May 2026 : Case report  Saudi Arabia

Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication

Mohammed Shahab Uddin ORCID logo, Maan Albehair ORCID logo, Fayez Nashi Motlaq Alshammari ORCID logo, Amr Esmail, Khaled Shafeen ORCID logo, Abdullah Bin Hassan ORCID logo, Hana Bawazier

DOI: 10.12659/AJCR.952024

Am J Case Rep 2026; 27:e952024

833 1696 0

#951645

11 May 2026 : Case report  China

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

797 1,564 0

#951645

11 May 2026 : Case report  China

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

797 1564 0

#952252

10 May 2026 : Case report  USA

Culture-Negative Infective Endocarditis Presenting as ANCA-Positive Glomerulonephritis

Mohammad Eshaq Kyhan ORCID logo, Adam M. Bressler

DOI: 10.12659/AJCR.952252

Am J Case Rep 2026; 27:e952252

1,175 2,954 0

#952252

10 May 2026 : Case report  USA

Culture-Negative Infective Endocarditis Presenting as ANCA-Positive Glomerulonephritis

Mohammad Eshaq Kyhan ORCID logo, Adam M. Bressler

DOI: 10.12659/AJCR.952252

Am J Case Rep 2026; 27:e952252

1175 2954 0

#951886

28 Apr 2026 : Case report  Serbia

Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique

Živojin S. Jonjev ORCID logo, Aleksandar M. Milosavljevic ORCID logo, Mirko Todić ORCID logo, Jovan Rajić, Kristina Jonjev ORCID logo

DOI: 10.12659/AJCR.951886

Am J Case Rep 2026; 27:e951886

777 1,335 0

#951886

28 Apr 2026 : Case report  Serbia

Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique

Živojin S. Jonjev ORCID logo, Aleksandar M. Milosavljevic ORCID logo, Mirko Todić ORCID logo, Jovan Rajić, Kristina Jonjev ORCID logo

DOI: 10.12659/AJCR.951886

Am J Case Rep 2026; 27:e951886

777 1335 0

#951855

25 Apr 2026 : Case report  Malaysia

Unilateral Linguofacial Trunk of the External Carotid Artery: A Cadaveric Case Report From Myanmar

Thazin ORCID logo, Muhammad Danial Che Ramli ORCID logo, Che Mohd Nasril Che Mohd Nassir ORCID logo, Zaw Myo Hein ORCID logo

DOI: 10.12659/AJCR.951855

Am J Case Rep 2026; 27:e951855

1,151 1,815 0

#951855

25 Apr 2026 : Case report  Malaysia

Unilateral Linguofacial Trunk of the External Carotid Artery: A Cadaveric Case Report From Myanmar

Thazin ORCID logo, Muhammad Danial Che Ramli ORCID logo, Che Mohd Nasril Che Mohd Nassir ORCID logo, Zaw Myo Hein ORCID logo

DOI: 10.12659/AJCR.951855

Am J Case Rep 2026; 27:e951855

1151 1815 0

#951665

24 Apr 2026 : Case report  China

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

1,596 5,787 0

#951665

24 Apr 2026 : Case report  China

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

1596 5787 0

#951250

18 Apr 2026 : Case report  Poland

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report

Maisa Manasar-Dyrbuś ORCID logo, Rafał Stojko ORCID logo, Monika Paul-Samojedny ORCID logo, Ewa Winkowska ORCID logo, Jakub Staniczek ORCID logo

DOI: 10.12659/AJCR.951250

Am J Case Rep 2026; 27:e951250

1,023 1,855 0

#951250

18 Apr 2026 : Case report  Poland

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report

Maisa Manasar-Dyrbuś ORCID logo, Rafał Stojko ORCID logo, Monika Paul-Samojedny ORCID logo, Ewa Winkowska ORCID logo, Jakub Staniczek ORCID logo

DOI: 10.12659/AJCR.951250

Am J Case Rep 2026; 27:e951250

1023 1855 0

#950257

17 Apr 2026 : Case report  China

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 ORCID logo, Lei Wu

DOI: 10.12659/AJCR.950257

Am J Case Rep 2026; 27:e950257

702 1,266 0

#950257

17 Apr 2026 : Case report  China

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 ORCID logo, Lei Wu

DOI: 10.12659/AJCR.950257

Am J Case Rep 2026; 27:e950257

702 1266 0

#951696

17 Mar 2026 : Case report  Indonesia

Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome

Iman Dwi Winanto ORCID logo, Jefryan Sofyan ORCID logo, Tommy Mandagi ORCID logo, Ricovially Davya Guci ORCID logo, Abdurrahman Mouza ORCID logo, Arya Tjipta Prananda ORCID logo

DOI: 10.12659/AJCR.951696

Am J Case Rep 2026; 27:e951696

889 2,467 0

#951696

17 Mar 2026 : Case report  Indonesia

Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome

Iman Dwi Winanto ORCID logo, Jefryan Sofyan ORCID logo, Tommy Mandagi ORCID logo, Ricovially Davya Guci ORCID logo, Abdurrahman Mouza ORCID logo, Arya Tjipta Prananda ORCID logo

DOI: 10.12659/AJCR.951696

Am J Case Rep 2026; 27:e951696

889 2467 0

#951421

11 Mar 2026 : Case report  Saudi Arabia

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 ORCID logo, Ahemd M. Samman

DOI: 10.12659/AJCR.951421

Am J Case Rep 2026; 27:e951421

872 1,459 0

#951421

11 Mar 2026 : Case report  Saudi Arabia

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 ORCID logo, Ahemd M. Samman

DOI: 10.12659/AJCR.951421

Am J Case Rep 2026; 27:e951421

872 1459 0

#949545

08 Mar 2026 : Case report  Poland

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series

Oliwia Wicik, Maksymilian Baryła ORCID logo, Jacek Pliszczyński ORCID logo, Aleksandra Popławska-Ferenc

DOI: 10.12659/AJCR.949545

Am J Case Rep 2026; 27:e949545

773 1,306 0

#949545

08 Mar 2026 : Case report  Poland

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series

Oliwia Wicik, Maksymilian Baryła ORCID logo, Jacek Pliszczyński ORCID logo, Aleksandra Popławska-Ferenc

DOI: 10.12659/AJCR.949545

Am J Case Rep 2026; 27:e949545

773 1306 0

#951257

20 Feb 2026 : Case report  Saudi Arabia

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

887 2,599 0

#951257

20 Feb 2026 : Case report  Saudi Arabia

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

887 2599 0

#951532

06 Feb 2026 : Case report  USA

Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report

Jes M. Sanders ORCID logo, Matthew Harris ORCID logo, Juan Carlos Caicedo, Steven J. Schwulst

DOI: 10.12659/AJCR.951532

Am J Case Rep 2026; 27:e951532

761 1,649 0

#951532

06 Feb 2026 : Case report  USA

Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report

Jes M. Sanders ORCID logo, Matthew Harris ORCID logo, Juan Carlos Caicedo, Steven J. Schwulst

DOI: 10.12659/AJCR.951532

Am J Case Rep 2026; 27:e951532

761 1649 0

#951298

05 Feb 2026 : Case report  China

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

672 1,386 0

#951298

05 Feb 2026 : Case report  China

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

672 1386 0

In Press

Case report  Mexico

Fresh Osteochondral Allograft Transplantation as a Salvage Procedure Following Failed Fixation of Osteochon...

Am J Case Rep In Press; DOI: 10.12659/AJCR.955010  

Case report  Japan

Simultaneous Infection Control and Reconstruction Using Continuous Local Antibiotic Perfusion in Septic Kne...

Am J Case Rep In Press; DOI: 10.12659/AJCR.953987  

Case report  USA

Intractable Nausea and Vomiting: A Key Feature of Neuromyelitis Optica Spectrum Disorder

Am J Case Rep In Press; DOI: 10.12659/AJCR.954044  

Case report  Japan

Arterial-to-End-Tidal CO₂ Gradient Direction as a Differential Diagnostic Clue During Sudden Hypercapnia in...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954468  

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