Congenital defects / diseases
06 Oct 2022 : Case report 
Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
Mohammed Shahab Uddin 
, Saleh Al Fulayyih , Fatin Fahad Al Denaini , Maher Mohammed Al Hatlani
DOI: 10.12659/AJCR.935840
Am J Case Rep 2022; 23:e935840
4,583 1,929 0
06 Oct 2022 : Case report
Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
Mohammed Shahab Uddin , Saleh Al Fulayyih , Fatin Fahad Al Denaini , Maher Mohammed Al Hatlani
DOI: 10.12659/AJCR.935840
Am J Case Rep 2022; 23:e935840
4583 1929 0
03 Oct 2022 : Case report 
Laparoscopic Splenectomy of a Wandering Pelvic Splenomegaly in a Young Woman Treated in Childhood with Surgery for Diaphragmatic Hernia and Adhesiolysis for Intestinal Obstruction
Eleonora Cartesegna, Pier Carlo Rassu, Valerio Accarpio, Stefano Barbieri, Maria Maurizia Bocchio, Eliana Giaminardi, Antonino Malfitano, Alessandro Montobbio, Sonja Olcese, Denise Palombo, Francesca Ré , Carmine Gianfranco Di Somma
DOI: 10.12659/AJCR.936964
Am J Case Rep 2022; 23:e936964
3,802 1,747 0
03 Oct 2022 : Case report
Laparoscopic Splenectomy of a Wandering Pelvic Splenomegaly in a Young Woman Treated in Childhood with Surgery for Diaphragmatic Hernia and Adhesiolysis for Intestinal Obstruction
Eleonora Cartesegna, Pier Carlo Rassu, Valerio Accarpio, Stefano Barbieri, Maria Maurizia Bocchio, Eliana Giaminardi, Antonino Malfitano, Alessandro Montobbio, Sonja Olcese, Denise Palombo, Francesca Ré , Carmine Gianfranco Di Somma
DOI: 10.12659/AJCR.936964
Am J Case Rep 2022; 23:e936964
3802 1747 0
15 Sep 2022 : Case report 
Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report
Marek Porowski, Henryk Skarżyński , Piotr Henryk Skarzynski
DOI: 10.12659/AJCR.936466
Am J Case Rep 2022; 23:e936466
3,158 1,732 0
15 Sep 2022 : Case report
Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report
Marek Porowski, Henryk Skarżyński , Piotr Henryk Skarzynski
DOI: 10.12659/AJCR.936466
Am J Case Rep 2022; 23:e936466
3158 1732 0
29 Jul 2022 : Case report
Endodontic Management of a Fused Mandibular Third Molar with Supernumerary Tooth Using Cone-Beam Computed Tomography: A Case Report
Waleed Almutairi, Mohammad Alduraibi
DOI: 10.12659/AJCR.937224
Am J Case Rep 2022; 23:e937224
4,388 2,655 0
29 Jul 2022 : Case report
Endodontic Management of a Fused Mandibular Third Molar with Supernumerary Tooth Using Cone-Beam Computed Tomography: A Case Report
Waleed Almutairi, Mohammad Alduraibi
DOI: 10.12659/AJCR.937224
Am J Case Rep 2022; 23:e937224
4388 2655 0
22 Aug 2022 : Case report 
Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report
Moulay Omar Moustaine, Mohammed Frarchi, Majd Haloui, Fatima Zahra Chabbab
DOI: 10.12659/AJCR.935544
Am J Case Rep 2022; 23:e935544
7,702 5,711 0
22 Aug 2022 : Case report
Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report
Moulay Omar Moustaine, Mohammed Frarchi, Majd Haloui, Fatima Zahra Chabbab
DOI: 10.12659/AJCR.935544
Am J Case Rep 2022; 23:e935544
7702 5711 0
17 Aug 2022 : Case report 
Right Heart Failure in a Patient with Critical Pulmonary Stenosis, Absent Right Pulmonary Artery, and Lung Cancer
Arthur Iturriagagoitia, Marc Vanderheyden, Werner Budts , Piet Vercauter
DOI: 10.12659/AJCR.937305
Am J Case Rep 2022; 23:e937305
4,600 1,820 0
17 Aug 2022 : Case report
Right Heart Failure in a Patient with Critical Pulmonary Stenosis, Absent Right Pulmonary Artery, and Lung Cancer
Arthur Iturriagagoitia, Marc Vanderheyden, Werner Budts , Piet Vercauter
DOI: 10.12659/AJCR.937305
Am J Case Rep 2022; 23:e937305
4600 1820 0
26 Jun 2022 : Case report 
Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation
Pongsakorn Choochuen, Wison Laochareonsuk, Pattama Tanaanantarak, Kanet Kanjanapradit, Surasak Sangkhathat
DOI: 10.12659/AJCR.935921
Am J Case Rep 2022; 23:e935921
3,922 1,499 0
26 Jun 2022 : Case report
Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation
Pongsakorn Choochuen, Wison Laochareonsuk, Pattama Tanaanantarak, Kanet Kanjanapradit, Surasak Sangkhathat
DOI: 10.12659/AJCR.935921
Am J Case Rep 2022; 23:e935921
3922 1499 0
24 Jun 2022 : Case report
Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation
Massimo Pisano, Giuseppe Sangiovanni, Francesco D'Ambrosio, Antonio Romano, Federica Di Spirito
DOI: 10.12659/AJCR.936142
Am J Case Rep 2022; 23:e936142
3,347 123 0
24 Jun 2022 : Case report
Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation
Massimo Pisano, Giuseppe Sangiovanni, Francesco D'Ambrosio, Antonio Romano, Federica Di Spirito
DOI: 10.12659/AJCR.936142
Am J Case Rep 2022; 23:e936142
3347 123 0
06 Jun 2022 : Case report 
Infected Thyroglossal Duct Cyst in a Neonate: A Report of a Rare Case
Brandon Tapasak, Dang-Khoa Nguyen, Sergio S. Cervantes
DOI: 10.12659/AJCR.936659
Am J Case Rep 2022; 23:e936659
8,861 2,777 0
06 Jun 2022 : Case report
Infected Thyroglossal Duct Cyst in a Neonate: A Report of a Rare Case
Brandon Tapasak, Dang-Khoa Nguyen, Sergio S. Cervantes
DOI: 10.12659/AJCR.936659
Am J Case Rep 2022; 23:e936659
8861 2777 0
04 Jun 2022 : Case report
Left Paraduodenal Hernia in a Young Patient with Recurrent Abdominal Pain: A Case Report and Short Literature Review
Gabriele Giordano, Elena La Mirata, Valentina Politi, Massimiliano Veroux , Gaetano Alfio Meli, Giuseppe Evola, Stefano Palmucci, Antonio Basile, Guido Basile
DOI: 10.12659/AJCR.935413
Am J Case Rep 2022; 23:e935413
4,918 2,232 0
04 Jun 2022 : Case report
Left Paraduodenal Hernia in a Young Patient with Recurrent Abdominal Pain: A Case Report and Short Literature Review
Gabriele Giordano, Elena La Mirata, Valentina Politi, Massimiliano Veroux , Gaetano Alfio Meli, Giuseppe Evola, Stefano Palmucci, Antonio Basile, Guido Basile
DOI: 10.12659/AJCR.935413
Am J Case Rep 2022; 23:e935413
4918 2232 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
3,957 1,485 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
3957 1485 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
6,577 7,987 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
6577 7987 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
4,686 1,389 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
4686 1389 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
6,015 2,313 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
6015 2313 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
4,067 1,882 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
4067 1882 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
3,677 1,802 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
3677 1802 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
8,254 1,862 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
8254 1862 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
6,416 1,925 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
6416 1925 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
6,838 2,619 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
6838 2619 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
4,461 1,713 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
4461 1713 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
3,827 2,025 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
3827 2025 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
2,884 1,245 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
2884 1245 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
2,582 1,169 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
2582 1169 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
3,563 1,337 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
3563 1337 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
2,995 1,920 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
2995 1920 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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