Congenital defects / diseases
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
7,122 3,744 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
7122 3744 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
8,551 2,541 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
8551 2541 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
4,695 2,353 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
4695 2353 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
4,064 3,421 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
4064 3421 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
3,084 1,757 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
3084 1757 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
2,826 1,668 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
2826 1668 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
3,841 1,893 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
3841 1893 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
3,182 2,561 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
3182 2561 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
3,534 2,263 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
3534 2263 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
3,407 1,880 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
3407 1880 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
3,104 1,514 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
3104 1514 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
3,377 1,932 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
3377 1932 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
4,992 5,533 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
4992 5533 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
3,270 1,697 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
3270 1697 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
7,399 3,365 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
7399 3365 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
3,025 2,206 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
3025 2206 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
3,957 4,457 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
3957 4457 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
3,521 1,932 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
3521 1932 0
11 Feb 2021 : Case report
Antenatal Diagnosis of Retroperitoneal Cystic Mass: Fetiform Teratoma or Fetus in Fetu? A Case Report
Spencer Pace, Marla A. Sacks, Laura F. Goodman, Edward P. Tagge, Andrei Radulescu
DOI: 10.12659/AJCR.929247
Am J Case Rep 2021; 22:e929247
5,130 5,445 0
11 Feb 2021 : Case report
Antenatal Diagnosis of Retroperitoneal Cystic Mass: Fetiform Teratoma or Fetus in Fetu? A Case Report
Spencer Pace, Marla A. Sacks, Laura F. Goodman, Edward P. Tagge, Andrei Radulescu
DOI: 10.12659/AJCR.929247
Am J Case Rep 2021; 22:e929247
5130 5445 0
08 Feb 2021 : Case report
Rupture of De Novo Middle Cerebral Artery Aneurysm 8 Years After the Clipping of Ruptured M1 Middle Cerebral Artery Aneurysm
Ahmad F. Tamimi, Nosaiba T. Al Ryalat, Malik E. Juweid, Rahma M. Doudeen, Qutada Al-Soub, Tareq M.A. Kanaan, Iskandar A. Tamimi
DOI: 10.12659/AJCR.929194
Am J Case Rep 2021; 22:e929194
4,387 2,658 0
08 Feb 2021 : Case report
Rupture of De Novo Middle Cerebral Artery Aneurysm 8 Years After the Clipping of Ruptured M1 Middle Cerebral Artery Aneurysm
Ahmad F. Tamimi, Nosaiba T. Al Ryalat, Malik E. Juweid, Rahma M. Doudeen, Qutada Al-Soub, Tareq M.A. Kanaan, Iskandar A. Tamimi
DOI: 10.12659/AJCR.929194
Am J Case Rep 2021; 22:e929194
4387 2658 0
02 Feb 2021 : Case report
Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland
Rafał Motyka, Marcin Kołbuc, Wojciech Wierzchołowski, Bodo B. Beck, Iwona Ewa Towpik, Marcin Zaniew
DOI: 10.12659/AJCR.928994
Am J Case Rep 2021; 22:e928994
3,991 5,200 0
02 Feb 2021 : Case report
Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland
Rafał Motyka, Marcin Kołbuc, Wojciech Wierzchołowski, Bodo B. Beck, Iwona Ewa Towpik, Marcin Zaniew
DOI: 10.12659/AJCR.928994
Am J Case Rep 2021; 22:e928994
3991 5200 0
26 Jan 2021 : Case report
Massive Retinal Gliosis in an Infant Microphthalmic Globe: A Case Report
Rakan S. Al-Essa, Hind Manaa Alkatan, Maria A. Arafah, Yasser H. Al-Faky
DOI: 10.12659/AJCR.929363
Am J Case Rep 2021; 22:e929363
2,605 1,646 0
26 Jan 2021 : Case report
Massive Retinal Gliosis in an Infant Microphthalmic Globe: A Case Report
Rakan S. Al-Essa, Hind Manaa Alkatan, Maria A. Arafah, Yasser H. Al-Faky
DOI: 10.12659/AJCR.929363
Am J Case Rep 2021; 22:e929363
2605 1646 0
03 Jan 2021 : Case report
Delivery of an Infant with Airway Compression Due to Cystic Hygroma at 37 Weeks' Gestation Requiring a Multidisciplinary Decision to Use a Combination of Ex Utero Intrapartum Treatment (EXIT) and Airway Palliation at Cesarean Section
Joel Sirianni, Joseph Abro, David Gutman
DOI: 10.12659/AJCR.927803
Am J Case Rep 2021; 22:e927803
6,650 4,612 0
03 Jan 2021 : Case report
Delivery of an Infant with Airway Compression Due to Cystic Hygroma at 37 Weeks' Gestation Requiring a Multidisciplinary Decision to Use a Combination of Ex Utero Intrapartum Treatment (EXIT) and Airway Palliation at Cesarean Section
Joel Sirianni, Joseph Abro, David Gutman
DOI: 10.12659/AJCR.927803
Am J Case Rep 2021; 22:e927803
6650 4612 0
07 Dec 2020 : Case report
Testicular Ectopia in a Child’s Anterior Abdominal Wall: A Case Report and Literature Review
Suliaman Mohammed Alaqeel, Anan Hassan Hakeem, Jamila Obaid Almaary
DOI: 10.12659/AJCR.927495
Am J Case Rep 2020; 21:e927495
3,206 1,831 0
07 Dec 2020 : Case report
Testicular Ectopia in a Child’s Anterior Abdominal Wall: A Case Report and Literature Review
Suliaman Mohammed Alaqeel, Anan Hassan Hakeem, Jamila Obaid Almaary
DOI: 10.12659/AJCR.927495
Am J Case Rep 2020; 21:e927495
3206 1831 0
02 Dec 2020 : Case report
Successful Radiofrequency Ablation of Recurrent Supraventricular Tachycardia in a Patient with Complex Congenital Heart Disease
Nkechi Christiana Arinze, Harry O. Eyituoyo, Rieta N. Aben, Dat P. Vu, Daniel B. Haithcock, Joseph Poku, Felix O. Sogade
DOI: 10.12659/AJCR.928147
Am J Case Rep 2020; 21:e928147
2,852 2,417 0
02 Dec 2020 : Case report
Successful Radiofrequency Ablation of Recurrent Supraventricular Tachycardia in a Patient with Complex Congenital Heart Disease
Nkechi Christiana Arinze, Harry O. Eyituoyo, Rieta N. Aben, Dat P. Vu, Daniel B. Haithcock, Joseph Poku, Felix O. Sogade
DOI: 10.12659/AJCR.928147
Am J Case Rep 2020; 21:e928147
2852 2417 0
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953915
Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.954162
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954113
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954391
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