Congenital defects / diseases
11 May 2023 : Case report 
Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report
Tokumasa Suemitsu, Ami Takesawa, Mayu Hosokawa, Takahiro Mitani, Mizuho Kadooka, Yoshiaki Furusawa, Motoyoshi Kawataki, Satoshi Dohi 
DOI: 10.12659/AJCR.939016
Am J Case Rep 2023; 24:e939016
525 53 0
11 May 2023 : Case report
Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report
Tokumasa Suemitsu, Ami Takesawa, Mayu Hosokawa, Takahiro Mitani, Mizuho Kadooka, Yoshiaki Furusawa, Motoyoshi Kawataki, Satoshi Dohi
DOI: 10.12659/AJCR.939016
Am J Case Rep 2023; 24:e939016
525 53 0
09 May 2023 : Case report 
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
DOI: 10.12659/AJCR.938651
Am J Case Rep 2023; 24:e938651
696 52 0
09 May 2023 : Case report
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
DOI: 10.12659/AJCR.938651
Am J Case Rep 2023; 24:e938651
696 52 0
07 Apr 2023 : Case report 
Case of Amaurosis Fugax in the Setting of a Persistent Primitive Hypoglossal Artery Requiring Carotid Endarterectomy with Regional Anesthesia
Stacey Telianidis , Mark J. Westcott , Craig M. Ironfield , Lauren M. Sanders
DOI: 10.12659/AJCR.939450
Am J Case Rep 2023; 24:e939450
656 42 0
07 Apr 2023 : Case report
Case of Amaurosis Fugax in the Setting of a Persistent Primitive Hypoglossal Artery Requiring Carotid Endarterectomy with Regional Anesthesia
Stacey Telianidis , Mark J. Westcott , Craig M. Ironfield , Lauren M. Sanders
DOI: 10.12659/AJCR.939450
Am J Case Rep 2023; 24:e939450
656 42 0
24 Mar 2023 : Case report
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
Corban P. Goodman, Hyunsoo Park, Georgi D. Mladenov , Steven L. Raymond, Andrew Sundin , Andrei Radulescu, Faraz A. Khan
DOI: 10.12659/AJCR.938248
Am J Case Rep 2023; 24:e938248
948 75 0
24 Mar 2023 : Case report
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
Corban P. Goodman, Hyunsoo Park, Georgi D. Mladenov , Steven L. Raymond, Andrew Sundin , Andrei Radulescu, Faraz A. Khan
DOI: 10.12659/AJCR.938248
Am J Case Rep 2023; 24:e938248
948 75 0
16 Feb 2023 : Case report 
Juxtacortical White Matter Hypointensity on T2*Gradient Echo Image in Vanishing White Matter Disease: A Case Report
Chun Geun Lim, Myong Hun Hahm, Hui Joong Lee
DOI: 10.12659/AJCR.938569
Am J Case Rep 2023; 24:e938569
973 52 0
16 Feb 2023 : Case report
Juxtacortical White Matter Hypointensity on T2*Gradient Echo Image in Vanishing White Matter Disease: A Case Report
Chun Geun Lim, Myong Hun Hahm, Hui Joong Lee
DOI: 10.12659/AJCR.938569
Am J Case Rep 2023; 24:e938569
973 52 0
27 Feb 2023 : Case report
Life-Threatening Retroperitoneal Hemorrhage Following Cyst Rupture in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case Report
Parikshit Duriseti, Yeshwanter Radhakrishnan, Maroun Chedid, Christian Hanna, Theodora A. Potrezke, Fouad T. Chebib
DOI: 10.12659/AJCR.938889
Am J Case Rep 2023; 24:e938889
1118 87 0
27 Feb 2023 : Case report
Life-Threatening Retroperitoneal Hemorrhage Following Cyst Rupture in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case Report
Parikshit Duriseti, Yeshwanter Radhakrishnan, Maroun Chedid, Christian Hanna, Theodora A. Potrezke, Fouad T. Chebib
DOI: 10.12659/AJCR.938889
Am J Case Rep 2023; 24:e938889
1118 87 0
11 Feb 2023 : Case report 
Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report
Hari Soekersi, Riza Putri Aulia Hernowo
DOI: 10.12659/AJCR.939011
Am J Case Rep 2023; 24:e939011
1012 58 0
11 Feb 2023 : Case report
Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report
Hari Soekersi, Riza Putri Aulia Hernowo
DOI: 10.12659/AJCR.939011
Am J Case Rep 2023; 24:e939011
1012 58 0
09 Feb 2023 : Case report 
Surgical Treatment Outcome for Familial Melkersson-Rosenthal Syndrome
Tannara Nobile Alencar, Marcela Machado Botelho, Natália Carasek, Fayez Bahmad Jr.
DOI: 10.12659/AJCR.938670
Am J Case Rep 2023; 24:e938670
947 62 0
09 Feb 2023 : Case report
Surgical Treatment Outcome for Familial Melkersson-Rosenthal Syndrome
Tannara Nobile Alencar, Marcela Machado Botelho, Natália Carasek, Fayez Bahmad Jr.
DOI: 10.12659/AJCR.938670
Am J Case Rep 2023; 24:e938670
947 62 0
24 Jan 2023 : Case report 
Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report
Jacob D. Van Buren, Jeremy T. Neuman, Richard Sidlow
DOI: 10.12659/AJCR.938507
Am J Case Rep 2023; 24:e938507
894 55 0
24 Jan 2023 : Case report
Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report
Jacob D. Van Buren, Jeremy T. Neuman, Richard Sidlow
DOI: 10.12659/AJCR.938507
Am J Case Rep 2023; 24:e938507
894 55 0
10 Jan 2023 : Case report
Early Identification and Intervention in Malignant Transformation of Respiratory Papillomatosis
Amar Ahmed, Asmita Shukla, Natalie Hubbell, Mohamad Khaled Almujarkesh, Dana LaBuda, Takahiro Ouchi
DOI: 10.12659/AJCR.937665
Am J Case Rep 2023; 24:e937665
1112 62 0
10 Jan 2023 : Case report
Early Identification and Intervention in Malignant Transformation of Respiratory Papillomatosis
Amar Ahmed, Asmita Shukla, Natalie Hubbell, Mohamad Khaled Almujarkesh, Dana LaBuda, Takahiro Ouchi
DOI: 10.12659/AJCR.937665
Am J Case Rep 2023; 24:e937665
1112 62 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
1653 73 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
1653 73 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
1479 63 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
1479 63 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
2215 97 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
2215 97 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
1270 47 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
1270 47 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
1130 45 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
1130 45 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
2120 150 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
2120 150 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
2707 92 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
2707 92 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
1726 61 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
1726 61 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
1389 61 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
1389 61 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
944 70 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
944 70 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
2182 82 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
2182 82 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
1657 61 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
1657 61 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
1712 51 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
1712 51 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
3885 136 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
3885 136 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
2205 69 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
2205 69 0
In Press
09 Jun 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.939250
08 Jun 2023 : Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.939098
06 Jun 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.940200
05 Jun 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.939421
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06 Dec 2021 : Case report
DOI :10.12659/AJCR.934406
Am J Case Rep 2021; 22:e934406
13 Jul 2022 : Case report
DOI :10.12659/AJCR.936441
Am J Case Rep 2022; 23:e936441
07 Dec 2021 : Case report
DOI :10.12659/AJCR.934347
Am J Case Rep 2021; 22:e934347
23 Feb 2022 : Case report
DOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250