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
7,026 3,449 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
7026 3449 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
4,642 2,194 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
4642 2194 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
3,987 3,133 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
3987 3133 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
3,025 1,564 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
3025 1564 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
2,758 1,501 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
2758 1501 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
3,774 1,721 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
3774 1721 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
3,116 2,419 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
3116 2419 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
3,454 2,094 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
3454 2094 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
3,299 1,681 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
3299 1681 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
3,015 1,379 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
3015 1379 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
3,296 1,773 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
3296 1773 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
4,900 5,283 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
4900 5283 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
3,194 1,571 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
3194 1571 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
7,270 3,157 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
7270 3157 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
2,898 2,011 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
2898 2011 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
3,430 1,773 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
3430 1773 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
3,885 4,282 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
3885 4282 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
5,002 4,787 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
5002 4787 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
4,303 2,422 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
4303 2422 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
3,903 4,921 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
3903 4921 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
2,533 1,498 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
2533 1498 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
6,537 4,365 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
6537 4365 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
3,093 1,681 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
3093 1681 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
2,748 2,199 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
2748 2199 0

22 Nov 2020 : Case report
A Case of Left Duplex Kidney with Hydronephrosis Mimicking a Left Renal Cyst in a 29-Year-Old Woman
Chung-Tso Chen, Shih-Feng Wang
DOI: 10.12659/AJCR.927430
Am J Case Rep 2020; 21:e927430
4,925 3,057 0

22 Nov 2020 : Case report
A Case of Left Duplex Kidney with Hydronephrosis Mimicking a Left Renal Cyst in a 29-Year-Old Woman
Chung-Tso Chen, Shih-Feng Wang
DOI: 10.12659/AJCR.927430
Am J Case Rep 2020; 21:e927430
4925 3057 0
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