Congenital defects / diseases

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
3,058 1,306 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
3058 1306 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
2,750 1,011 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
2750 1011 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
3,113 1,407 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
3113 1407 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
4,696 3,785 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
4696 3785 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
2,950 1,183 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
2950 1183 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
7,054 2,631 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
7054 2631 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
2,602 1,461 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
2602 1461 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
3,176 1,356 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
3176 1356 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
3,644 3,039 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
3644 3039 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
4,723 3,366 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
4723 3366 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
4,061 1,701 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
4061 1701 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
3,638 3,166 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
3638 3166 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
2,302 1,095 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
2302 1095 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
6,232 3,765 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
6232 3765 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
2,796 1,216 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
2796 1216 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
2,487 1,647 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
2487 1647 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
4,626 2,065 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
4626 2065 0

18 Nov 2020 : Case report
Giant Cavernous Hemangioma of the Liver in a Patient with Autosomal Dominant Polycystic Kidney Disease
Iuliana Maria Ghenu, Rodica Constantin, Dorin Ionescu, Dorin Dragos
DOI: 10.12659/AJCR.927188
Am J Case Rep 2020; 21:e927188
3,720 2,433 0

18 Nov 2020 : Case report
Giant Cavernous Hemangioma of the Liver in a Patient with Autosomal Dominant Polycystic Kidney Disease
Iuliana Maria Ghenu, Rodica Constantin, Dorin Ionescu, Dorin Dragos
DOI: 10.12659/AJCR.927188
Am J Case Rep 2020; 21:e927188
3720 2433 0

08 Nov 2020 : Case report
The Role of Ultrasound in Dunbar Syndrome: Lessons Based on a Case Report
Renato Farina, Pietro Valerio Foti, Andrea Conti, Francesco Aldo Iannace, Isabella Pennisi, Serafino Santonocito, Luigi Fanzone, Giuseppe Mazzone, Stefano Palmucci, Antonio Basile
DOI: 10.12659/AJCR.926778
Am J Case Rep 2020; 21:e926778
7,770 5,247 0

08 Nov 2020 : Case report
The Role of Ultrasound in Dunbar Syndrome: Lessons Based on a Case Report
Renato Farina, Pietro Valerio Foti, Andrea Conti, Francesco Aldo Iannace, Isabella Pennisi, Serafino Santonocito, Luigi Fanzone, Giuseppe Mazzone, Stefano Palmucci, Antonio Basile
DOI: 10.12659/AJCR.926778
Am J Case Rep 2020; 21:e926778
7770 5247 0

15 Oct 2020 : Case report
Torsades de Pointes During Myringotomy in a Child with Congenital Long QT Syndrome: A Case Report
Melissa Coleman, Jason R. Imundo, Daniel Cortez, Mark H. Cohen, Padmani Dhar, Priti G. Dalal
DOI: 10.12659/AJCR.925602
Am J Case Rep 2020; 21:e925602
3,000 1,184 0

15 Oct 2020 : Case report
Torsades de Pointes During Myringotomy in a Child with Congenital Long QT Syndrome: A Case Report
Melissa Coleman, Jason R. Imundo, Daniel Cortez, Mark H. Cohen, Padmani Dhar, Priti G. Dalal
DOI: 10.12659/AJCR.925602
Am J Case Rep 2020; 21:e925602
3000 1184 0

09 Sep 2020 : Case report
A Rare Combination of Left-Sided Gastroschisis and Omphalocele in a Full-Term Neonate: A Case Report
Tyler Masden, Donald C. Moores, Andrei Radulescu
DOI: 10.12659/AJCR.923301
Am J Case Rep 2020; 21:e923301
4,873 1,842 0

09 Sep 2020 : Case report
A Rare Combination of Left-Sided Gastroschisis and Omphalocele in a Full-Term Neonate: A Case Report
Tyler Masden, Donald C. Moores, Andrei Radulescu
DOI: 10.12659/AJCR.923301
Am J Case Rep 2020; 21:e923301
4873 1842 0

07 Aug 2020 : Case report
Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature
Jan Kloka, Lea Valeska Blum, Florian Piekarski, Kai Zacharowski, Florian J. Raimann
DOI: 10.12659/AJCR.923018
Am J Case Rep 2020; 21:e923018
4,962 1,909 0

07 Aug 2020 : Case report
Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature
Jan Kloka, Lea Valeska Blum, Florian Piekarski, Kai Zacharowski, Florian J. Raimann
DOI: 10.12659/AJCR.923018
Am J Case Rep 2020; 21:e923018
4962 1909 0

17 Jul 2020 : Case report
“The Heart Sound Quintet”: A Case Report of Right-Sided Heart Failure Due to Free Pulmonary Regurgitation Long After Intracardiac Repair of Tetralogy of Fallot
Hiroshi Fujita, Kensuke Matsumoto, Keisuke Miwa, Makiko Suzuki, Makiko Suto, Jun Sakai, Hidekazu Tanaka, Ken-ichi Hirata
DOI: 10.12659/AJCR.924636
Am J Case Rep 2020; 21:e924636
3,853 2,195 0

17 Jul 2020 : Case report
“The Heart Sound Quintet”: A Case Report of Right-Sided Heart Failure Due to Free Pulmonary Regurgitation Long After Intracardiac Repair of Tetralogy of Fallot
Hiroshi Fujita, Kensuke Matsumoto, Keisuke Miwa, Makiko Suzuki, Makiko Suto, Jun Sakai, Hidekazu Tanaka, Ken-ichi Hirata
DOI: 10.12659/AJCR.924636
Am J Case Rep 2020; 21:e924636
3853 2195 0

19 Jul 2020 : Case report
Myocardial Bridging: A Case Presentation of Atypical Chest Pain Syndrome in a Young Woman
Shahnaz Duymun, Emmanuel Misodi
DOI: 10.12659/AJCR.923075
Am J Case Rep 2020; 21:e923075
4,092 2,752 0

19 Jul 2020 : Case report
Myocardial Bridging: A Case Presentation of Atypical Chest Pain Syndrome in a Young Woman
Shahnaz Duymun, Emmanuel Misodi
DOI: 10.12659/AJCR.923075
Am J Case Rep 2020; 21:e923075
4092 2752 0

11 Jun 2020 : Case report
Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period
Arlete Esteves Lopes Primo, Romy Schmidt Brock Zacharias, Amanda Dias de Moraes, Luiz Vicente Ribeiro Ferreira da Silva Filho, Daniela Rodriguez Trujillo, Renata de Araújo Monteiro Yoshida, Arno Noberto Warth, Celso Moura Rebello
DOI: 10.12659/AJCR.921949
Am J Case Rep 2020; 21:e921949
2,507 437 0

11 Jun 2020 : Case report
Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period
Arlete Esteves Lopes Primo, Romy Schmidt Brock Zacharias, Amanda Dias de Moraes, Luiz Vicente Ribeiro Ferreira da Silva Filho, Daniela Rodriguez Trujillo, Renata de Araújo Monteiro Yoshida, Arno Noberto Warth, Celso Moura Rebello
DOI: 10.12659/AJCR.921949
Am J Case Rep 2020; 21:e921949
2507 437 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950290
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950607
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950985
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