Congenital defects / diseases

20 Sep 2026 : Case report
Eisenmenger Syndrome After Delayed Atrial Septal Defect Closure at High Altitude: A Case Report
Angelica Guaman-Gavilema
, Domenica Villacres-Alarcon
, Andres Arteaga-Arellano
, Roberto Arregui-Costales, Jordan Llerena-Velastegui
, Ruth Jimbo-Sotomayor
, Xavier Sanchez
DOI: 10.12659/AJCR.953540
Am J Case Rep 2026; 27:e953540
491 359 0

20 Sep 2026 : Case report
Eisenmenger Syndrome After Delayed Atrial Septal Defect Closure at High Altitude: A Case Report
Angelica Guaman-Gavilema
, Domenica Villacres-Alarcon
, Andres Arteaga-Arellano
, Roberto Arregui-Costales, Jordan Llerena-Velastegui
, Ruth Jimbo-Sotomayor
, Xavier Sanchez
DOI: 10.12659/AJCR.953540
Am J Case Rep 2026; 27:e953540
491 359 0

16 Sep 2026 : Case report
Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population
Nur Farhanah
, Jessica Novia Hadiyanto
, Sefri Noventi Sofia
, Tania Tedjo Minuljo, Tri Indah Winarni
DOI: 10.12659/AJCR.952213
Am J Case Rep 2026; 27:e952213
435 269 0

16 Sep 2026 : Case report
Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population
Nur Farhanah
, Jessica Novia Hadiyanto
, Sefri Noventi Sofia
, Tania Tedjo Minuljo, Tri Indah Winarni
DOI: 10.12659/AJCR.952213
Am J Case Rep 2026; 27:e952213
435 269 0

26 Aug 2026 : Case report
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
595 670 0

26 Aug 2026 : Case report
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
595 670 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
511 718 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
511 718 0

05 Aug 2026 : Case report
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
569 685 0

05 Aug 2026 : Case report
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
569 685 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
616 974 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
616 974 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
494 741 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
494 741 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
486 768 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
486 768 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
721 1,242 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
721 1242 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
695 1,436 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
695 1436 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
705 1,230 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
705 1230 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
1,057 2,634 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
1057 2634 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
688 1,112 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
688 1112 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
966 1,516 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
966 1516 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
1,325 5,026 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
1325 5026 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
883 1,549 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
883 1549 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
610 1,060 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
610 1060 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
585 1,101 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
585 1101 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
802 2,105 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
802 2105 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
807 1,286 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
807 1286 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
703 1,156 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
703 1156 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
817 2,338 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
817 2338 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
1,456 94 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
1456 94 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
687 1,476 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
687 1476 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
611 1,220 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
611 1220 0
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