Congenital defects / diseases
23 Nov 2022 : Case report 
Pelvic Ring and Peritrochanteric Fractures in a Patient with Osteogenesis Imperfecta Treated Surgically: Case Report with a 5-Year Follow-Up
Andrzej Zawadzki, Sylwester Dawid, Mateusz Kulig, Marcin Skorupski, Maciej Otworowski
DOI: 10.12659/AJCR.938414
Am J Case Rep 2022; 23:e938414
4,274 1,909 0
23 Nov 2022 : Case report
Pelvic Ring and Peritrochanteric Fractures in a Patient with Osteogenesis Imperfecta Treated Surgically: Case Report with a 5-Year Follow-Up
Andrzej Zawadzki, Sylwester Dawid, Mateusz Kulig, Marcin Skorupski, Maciej Otworowski
DOI: 10.12659/AJCR.938414
Am J Case Rep 2022; 23:e938414
4274 1909 0
22 Oct 2022 : Case report
Association Between Parafibromin Expression and Presence of Brown Tumors and Jaw Tumors in Patients with Primary Hyperparathyroidism: Series of Cases with Review of the Literature
Michał Popow, Monika Kaszczewska, Magdalena Góralska, Piotr Kaszczewski, Agata Skwarek-Szewczyk 
, Witold Chudziński , Krystian Jażdżewski, Monika Kolanowska, Magdalena Bogdańska, Aleksandra Starzyńska-Kubicka , Zbigniew Gałązka
DOI: 10.12659/AJCR.936135
Am J Case Rep 2022; 23:e936135
3,358 1,628 0
22 Oct 2022 : Case report
Association Between Parafibromin Expression and Presence of Brown Tumors and Jaw Tumors in Patients with Primary Hyperparathyroidism: Series of Cases with Review of the Literature
Michał Popow, Monika Kaszczewska, Magdalena Góralska, Piotr Kaszczewski, Agata Skwarek-Szewczyk , Witold Chudziński , Krystian Jażdżewski, Monika Kolanowska, Magdalena Bogdańska, Aleksandra Starzyńska-Kubicka , Zbigniew Gałązka
DOI: 10.12659/AJCR.936135
Am J Case Rep 2022; 23:e936135
3358 1628 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
4,684 2,084 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
4684 2084 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
3,844 1,843 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
3844 1843 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
3,229 1,854 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
3229 1854 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
4,422 2,774 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
4422 2774 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
7,750 5,979 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
7750 5979 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
4,647 1,921 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
4647 1921 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
3,958 1,592 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
3958 1592 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
3,428 124 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
3428 124 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
8,929 2,952 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
8929 2952 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
4,938 2,372 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
4938 2372 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
3,985 1,597 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
3985 1597 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
6,663 8,319 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
6663 8319 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
4,745 1,496 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
4745 1496 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
6,084 2,439 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
6084 2439 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
4,147 2,051 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
4147 2051 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
3,725 1,904 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
3725 1904 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
8,328 2,007 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
8328 2007 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
6,468 2,049 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
6468 2049 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
6,885 2,761 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
6885 2761 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
4,520 1,850 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
4520 1850 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
3,858 2,143 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
3858 2143 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
2,937 1,364 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
2937 1364 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
2,633 1,265 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
2633 1265 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953173
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953192
Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.952818
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953608
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