Congenital defects / diseases

18 May 2022 : Case report
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
Nelimar Cruz-Centeno, Jean F. Saenz-Maisonet, Paola M. López-Dones, Alberto Santiago-Cornier, Victor N. Ortiz-Justiniano
DOI: 10.12659/AJCR.935526
Am J Case Rep 2022; 23:e935526
2001 56 0

18 May 2022 : Case report
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
Nelimar Cruz-Centeno, Jean F. Saenz-Maisonet, Paola M. López-Dones, Alberto Santiago-Cornier, Victor N. Ortiz-Justiniano
DOI: 10.12659/AJCR.935526
Am J Case Rep 2022; 23:e935526
2001 56 0

17 Apr 2022 : Case report
Complete Plaque Regression in Patients with Peyronie’s Disease After Multimodal Treatment with Antioxidants: A Report of 2 Cases
Gianni Paulis, Giovanni De Giorgio
DOI: 10.12659/AJCR.936146
Am J Case Rep 2022; 23:e936146
4494 144 0

17 Apr 2022 : Case report
Complete Plaque Regression in Patients with Peyronie’s Disease After Multimodal Treatment with Antioxidants: A Report of 2 Cases
Gianni Paulis, Giovanni De Giorgio
DOI: 10.12659/AJCR.936146
Am J Case Rep 2022; 23:e936146
4494 144 0

21 Mar 2022 : Case report
Use of Continuous Veno-Venous Hemodialysis (CVVHD) in Treatment of a Polytrauma Patient with Severe Hemophilia A
Renata Zajączkowska, Joanna Zorska, Wojciech Serednicki, Anna Wrzosek, Jerzy W. Wordliczek
DOI: 10.12659/AJCR.934802
Am J Case Rep 2022; 23:e934802
2488 74 0

21 Mar 2022 : Case report
Use of Continuous Veno-Venous Hemodialysis (CVVHD) in Treatment of a Polytrauma Patient with Severe Hemophilia A
Renata Zajączkowska, Joanna Zorska, Wojciech Serednicki, Anna Wrzosek, Jerzy W. Wordliczek
DOI: 10.12659/AJCR.934802
Am J Case Rep 2022; 23:e934802
2488 74 0

24 Feb 2022 : Case report
Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review
Fatimah J. Almuqarrab, Omar Mohammed Alakloby, Jamal Mohammed Alqahtani, Hans Christian Hennies
DOI: 10.12659/AJCR.935393
Am J Case Rep 2022; 23:e935393
2620 105 0

24 Feb 2022 : Case report
Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review
Fatimah J. Almuqarrab, Omar Mohammed Alakloby, Jamal Mohammed Alqahtani, Hans Christian Hennies
DOI: 10.12659/AJCR.935393
Am J Case Rep 2022; 23:e935393
2620 105 0

22 Feb 2022 : Case report
Laparoscopic Enterolysis of Congenital Band Precipitating Pathogenic Heterotopic Mesenteric Ossification Requiring Hemicolectomy: A Case Report
Kathryn Sarraf, Ory Newman, Mehran Mirkazemi, Thomas Serena
DOI: 10.12659/AJCR.934910
Am J Case Rep 2022; 23:e934910
1651 69 0

22 Feb 2022 : Case report
Laparoscopic Enterolysis of Congenital Band Precipitating Pathogenic Heterotopic Mesenteric Ossification Requiring Hemicolectomy: A Case Report
Kathryn Sarraf, Ory Newman, Mehran Mirkazemi, Thomas Serena
DOI: 10.12659/AJCR.934910
Am J Case Rep 2022; 23:e934910
1651 69 0

01 Feb 2022 : Case report
Chordal Systolic Anterior Motion of the Mitral Valve in Dextro-Looped Transposition of the Great Vessels After Mustard Procedure
Kristopher Pfirman, Evan Gleaves, Connor Donley, Aniruddha Singh, Mohammed Kazimuddin
DOI: 10.12659/AJCR.933703
Am J Case Rep 2022; 23:e933703
1786 75 0

01 Feb 2022 : Case report
Chordal Systolic Anterior Motion of the Mitral Valve in Dextro-Looped Transposition of the Great Vessels After Mustard Procedure
Kristopher Pfirman, Evan Gleaves, Connor Donley, Aniruddha Singh, Mohammed Kazimuddin
DOI: 10.12659/AJCR.933703
Am J Case Rep 2022; 23:e933703
1786 75 0

03 Jan 2022 : Case report
A 4-Month-Old Girl with Persistent Respiratory Distress and Multiple Admissions to the Pediatric Intensive Care Unit Due to a Congenital Bronchogenic Cyst
Alzahra Y. Alradhi, Abdullah Al-Shamarni, Abdullah Yousef
DOI: 10.12659/AJCR.935247
Am J Case Rep 2022; 23:e935247
2702 128 0

03 Jan 2022 : Case report
A 4-Month-Old Girl with Persistent Respiratory Distress and Multiple Admissions to the Pediatric Intensive Care Unit Due to a Congenital Bronchogenic Cyst
Alzahra Y. Alradhi, Abdullah Al-Shamarni, Abdullah Yousef
DOI: 10.12659/AJCR.935247
Am J Case Rep 2022; 23:e935247
2702 128 0

18 Jan 2022 : Case report
A 34-Year-Old Thai Man Presenting with Pulmonary Stenosis and Heart Failure 24 Years After Surgical Correction with the Rastelli Procedure for Congenital Dextro-Transposition of the Great Artery, Ventricular Septal Defect, and Pulmonary Atresia
Natnicha Pongbangli, Sasivimon Jai-aue, Wannaphorn Rotchanapanya , Wanwarang Wongcharoen
DOI: 10.12659/AJCR.933078
Am J Case Rep 2022; 23:e933078
2933 86 0

18 Jan 2022 : Case report
A 34-Year-Old Thai Man Presenting with Pulmonary Stenosis and Heart Failure 24 Years After Surgical Correction with the Rastelli Procedure for Congenital Dextro-Transposition of the Great Artery, Ventricular Septal Defect, and Pulmonary Atresia
Natnicha Pongbangli, Sasivimon Jai-aue, Wannaphorn Rotchanapanya , Wanwarang Wongcharoen
DOI: 10.12659/AJCR.933078
Am J Case Rep 2022; 23:e933078
2933 86 0

17 Jan 2022 : Case report
Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report
Evida Mars-Holt, Alex Murdoch, Amanda Frugoli, Brian Utz, Lynn Kong
DOI: 10.12659/AJCR.932649
Am J Case Rep 2022; 23:e932649
2828 114 0

17 Jan 2022 : Case report
Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report
Evida Mars-Holt, Alex Murdoch, Amanda Frugoli, Brian Utz, Lynn Kong
DOI: 10.12659/AJCR.932649
Am J Case Rep 2022; 23:e932649
2828 114 0

28 Dec 2021 : Case report
Neonatal Gastric Necrosis and Perforation Treated by Subtotal Gastrectomy and Esogastric Anastomosis: A Case Report
Rachid K. Khemakhem, Diaa Eldin A. Mahdi, Nada E. Algethami, Raghad H. AlQurashi, Amal K. Alnemari, Raghad A. Al thobaiti
DOI: 10.12659/AJCR.931820
Am J Case Rep 2021; 22:e931820
2400 88 0

28 Dec 2021 : Case report
Neonatal Gastric Necrosis and Perforation Treated by Subtotal Gastrectomy and Esogastric Anastomosis: A Case Report
Rachid K. Khemakhem, Diaa Eldin A. Mahdi, Nada E. Algethami, Raghad H. AlQurashi, Amal K. Alnemari, Raghad A. Al thobaiti
DOI: 10.12659/AJCR.931820
Am J Case Rep 2021; 22:e931820
2400 88 0

24 Dec 2021 : Case report
Giant High-Grade Immature Teratoma of the Central Nervous System (CNS) in an Infant: A Case Report
Ali Riazi, Mehrdad Larry, Ali Mokhtari, Hossein Abdali, Mehrnaz Asfia, Sara Bagherieh
DOI: 10.12659/AJCR.932752
Am J Case Rep 2021; 22:e932752
2010 76 0

24 Dec 2021 : Case report
Giant High-Grade Immature Teratoma of the Central Nervous System (CNS) in an Infant: A Case Report
Ali Riazi, Mehrdad Larry, Ali Mokhtari, Hossein Abdali, Mehrnaz Asfia, Sara Bagherieh
DOI: 10.12659/AJCR.932752
Am J Case Rep 2021; 22:e932752
2010 76 0

07 Nov 2021 : Case report
Usefulness of Endoscopy for Female Genital Plastic Surgery: A Series of 4 Cases with Genital Malformations
Keiyo Imaeda, Yusuke Kobayashi , Kanako Nakamura, Shigenori Hayashi, Tohru Morisada, Kouji Banno, Daisuke Aoki
DOI: 10.12659/AJCR.934363
Am J Case Rep 2021; 22:e934363
1789 33 0

07 Nov 2021 : Case report
Usefulness of Endoscopy for Female Genital Plastic Surgery: A Series of 4 Cases with Genital Malformations
Keiyo Imaeda, Yusuke Kobayashi , Kanako Nakamura, Shigenori Hayashi, Tohru Morisada, Kouji Banno, Daisuke Aoki
DOI: 10.12659/AJCR.934363
Am J Case Rep 2021; 22:e934363
1789 33 0

20 Sep 2021 : Case report
Transcatheter Occlusion of a Giant Coronary Artery Fistula in a Neonate
Shunsuke Yamada, Mieko Aoki-Okazaki, Manatomo Toyono
DOI: 10.12659/AJCR.933079
Am J Case Rep 2021; 22:e933079
1470 28 0

20 Sep 2021 : Case report
Transcatheter Occlusion of a Giant Coronary Artery Fistula in a Neonate
Shunsuke Yamada, Mieko Aoki-Okazaki, Manatomo Toyono
DOI: 10.12659/AJCR.933079
Am J Case Rep 2021; 22:e933079
1470 28 0

04 Sep 2021 : Case report
Anesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center
Sanjay Mohan, Timothy J. Del Rosario, Brandon E. Pruett, Jarrett A. Heard
DOI: 10.12659/AJCR.931974
Am J Case Rep 2021; 22:e931974
2424 27 0

04 Sep 2021 : Case report
Anesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center
Sanjay Mohan, Timothy J. Del Rosario, Brandon E. Pruett, Jarrett A. Heard
DOI: 10.12659/AJCR.931974
Am J Case Rep 2021; 22:e931974
2424 27 0

01 Sep 2021 : Case report
A Coronary Artery Anomaly Presenting as Acute Coronary Syndrome: A Case Report
Mariana S. de A. Chaud, Camila A. Agostinho, Felipe L. Malafaia, Márcio C. Sampaio, Paulo Chaccur, Pedro Gabriel Melo de Barros e Silva , Expedito E. Ribeiro, José Carlos Teixeira Garcia, Valter Furlan, Henrique B. Ribeiro
DOI: 10.12659/AJCR.931561
Am J Case Rep 2021; 22:e931561
1749 21 0

01 Sep 2021 : Case report
A Coronary Artery Anomaly Presenting as Acute Coronary Syndrome: A Case Report
Mariana S. de A. Chaud, Camila A. Agostinho, Felipe L. Malafaia, Márcio C. Sampaio, Paulo Chaccur, Pedro Gabriel Melo de Barros e Silva , Expedito E. Ribeiro, José Carlos Teixeira Garcia, Valter Furlan, Henrique B. Ribeiro
DOI: 10.12659/AJCR.931561
Am J Case Rep 2021; 22:e931561
1749 21 0

23 Aug 2021 : Case report
Case Report: Ectopic Liver (Choristoma) Discovered During Laparoscopic Cholecystectomy
Leena H. Moshref, Abdulrahman M. Alotaibi
DOI: 10.12659/AJCR.932784
Am J Case Rep 2021; 22:e932784
1899 38 0

23 Aug 2021 : Case report
Case Report: Ectopic Liver (Choristoma) Discovered During Laparoscopic Cholecystectomy
Leena H. Moshref, Abdulrahman M. Alotaibi
DOI: 10.12659/AJCR.932784
Am J Case Rep 2021; 22:e932784
1899 38 0

20 Jul 2021 : Case report
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant
Irena Jankowska, Joanna Pawłowska, Marek Szymczak, Hor Ismail, Dorota Broniszczak, Joanna Cielecka-Kuszyk, Piotr Socha, Dorota Jarzębicka, Piotr Czubkowski
DOI: 10.12659/AJCR.932374
Am J Case Rep 2021; 22:e932374
1833 48 0

20 Jul 2021 : Case report
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant
Irena Jankowska, Joanna Pawłowska, Marek Szymczak, Hor Ismail, Dorota Broniszczak, Joanna Cielecka-Kuszyk, Piotr Socha, Dorota Jarzębicka, Piotr Czubkowski
DOI: 10.12659/AJCR.932374
Am J Case Rep 2021; 22:e932374
1833 48 0

12 Jul 2021 : Case report
Absent Left Anterior Descending Coronary Artery as a Potential Cause of Ischemic Stroke: A Case Report
Alia Ali Alokley, Aishah Albakr, Mohammed Almansori
DOI: 10.12659/AJCR.931109
Am J Case Rep 2021; 22:e931109
1609 24 0

12 Jul 2021 : Case report
Absent Left Anterior Descending Coronary Artery as a Potential Cause of Ischemic Stroke: A Case Report
Alia Ali Alokley, Aishah Albakr, Mohammed Almansori
DOI: 10.12659/AJCR.931109
Am J Case Rep 2021; 22:e931109
1609 24 0

01 Jun 2021 : Case report
Blunt Abdominal Trauma Leading to an Incidental Finding of Duplicate Inferior Vena Cava (DIVC): A Case Report and Literature Review
Mamoun Nabri, Norah J. Alromaih, Sharifah A. Othman, Elham S. Alghusnah, Hossain Abu Al Ola, Adel Elbagir, Ayman O. Nasr
DOI: 10.12659/AJCR.929198
Am J Case Rep 2021; 22:e929198
1757 24 0

01 Jun 2021 : Case report
Blunt Abdominal Trauma Leading to an Incidental Finding of Duplicate Inferior Vena Cava (DIVC): A Case Report and Literature Review
Mamoun Nabri, Norah J. Alromaih, Sharifah A. Othman, Elham S. Alghusnah, Hossain Abu Al Ola, Adel Elbagir, Ayman O. Nasr
DOI: 10.12659/AJCR.929198
Am J Case Rep 2021; 22:e929198
1757 24 0

23 May 2021 : Case report
Isolated Ventricular Septal Aneurysm: A Differential Diagnosis for a Right Sinus of Valsalva Aneurysm
Andrew Assaf, Ryan Berry, Yogamaya Mantha, Marcel Zughaib, Souheil Saba
DOI: 10.12659/AJCR.930930
Am J Case Rep 2021; 22:e930930
2240 35 0

23 May 2021 : Case report
Isolated Ventricular Septal Aneurysm: A Differential Diagnosis for a Right Sinus of Valsalva Aneurysm
Andrew Assaf, Ryan Berry, Yogamaya Mantha, Marcel Zughaib, Souheil Saba
DOI: 10.12659/AJCR.930930
Am J Case Rep 2021; 22:e930930
2240 35 0

12 May 2021 : Case report
Implantation of the Vibrant Soundbridge in a Case of Bilateral Malformation of the Middle and External Ear
Henryk Skarżyński, Łukasz Plichta, Bartłomiej Król, Katarzyna Beata Cywka, Piotr Henryk Skarżyński
DOI: 10.12659/AJCR.929933
Am J Case Rep 2021; 22:e929933
1666 23 0

12 May 2021 : Case report
Implantation of the Vibrant Soundbridge in a Case of Bilateral Malformation of the Middle and External Ear
Henryk Skarżyński, Łukasz Plichta, Bartłomiej Król, Katarzyna Beata Cywka, Piotr Henryk Skarżyński
DOI: 10.12659/AJCR.929933
Am J Case Rep 2021; 22:e929933
1666 23 0

09 May 2021 : Case report
A Rare Anatomic Variant of Double Replaced Hepatic Arteries: A Case Report and Brief Review of the Anomalous Hepatic Vasculature Literature
Mazzin Elsamaloty, Eric Schupp, Abdighani Ismail, Clariza Borile, Krista Chun, Jeffrey M. Sutton
DOI: 10.12659/AJCR.930990
Am J Case Rep 2021; 22:e930990
3807 33 0

09 May 2021 : Case report
A Rare Anatomic Variant of Double Replaced Hepatic Arteries: A Case Report and Brief Review of the Anomalous Hepatic Vasculature Literature
Mazzin Elsamaloty, Eric Schupp, Abdighani Ismail, Clariza Borile, Krista Chun, Jeffrey M. Sutton
DOI: 10.12659/AJCR.930990
Am J Case Rep 2021; 22:e930990
3807 33 0

22 Apr 2021 : Case report
Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up
Yasmim Rodrigues Sena, Humberto Jácome-Santos, Sergio de Melo Alves Junior, João de Jesus Viana Pinheiro, Newton Guerreiro da Silva Júnior
DOI: 10.12659/AJCR.928670
Am J Case Rep 2021; 22:e928670
1421 23 0

22 Apr 2021 : Case report
Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up
Yasmim Rodrigues Sena, Humberto Jácome-Santos, Sergio de Melo Alves Junior, João de Jesus Viana Pinheiro, Newton Guerreiro da Silva Júnior
DOI: 10.12659/AJCR.928670
Am J Case Rep 2021; 22:e928670
1421 23 0

25 Mar 2021 : Case report
Congenital Hairy Polyp Causing Severe Upper Airway Obstruction in a Newborn: A Case Report
Laith Khasawneh, Giampiero Neri, Abdel-Hameed Al-Mistarehi, Adi H. Khassawneh, Khaled Al-Omar, Giulio Romano Filograna Pignatelli, Amjed Adnan Tarifi, Mohammad A. Al Katatbeh, Firas Alzoubi
DOI: 10.12659/AJCR.930200
Am J Case Rep 2021; 22:e930200
1631 24 0

25 Mar 2021 : Case report
Congenital Hairy Polyp Causing Severe Upper Airway Obstruction in a Newborn: A Case Report
Laith Khasawneh, Giampiero Neri, Abdel-Hameed Al-Mistarehi, Adi H. Khassawneh, Khaled Al-Omar, Giulio Romano Filograna Pignatelli, Amjed Adnan Tarifi, Mohammad A. Al Katatbeh, Firas Alzoubi
DOI: 10.12659/AJCR.930200
Am J Case Rep 2021; 22:e930200
1631 24 0

11 Apr 2021 : Case report
Bundle Branch Reentrant Ventricular Tachycardia Treated with Catheter Ablation in a Patient with Myotonic Dystrophy
Dongmin Kim
DOI: 10.12659/AJCR.929353
Am J Case Rep 2021; 22:e929353
1557 20 0

11 Apr 2021 : Case report
Bundle Branch Reentrant Ventricular Tachycardia Treated with Catheter Ablation in a Patient with Myotonic Dystrophy
Dongmin Kim
DOI: 10.12659/AJCR.929353
Am J Case Rep 2021; 22:e929353
1557 20 0
In Press
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941337
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941422
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941599
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941877
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23 Feb 2022 : Case report
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