Congenital defects / diseases
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
2,240 2,080 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
2240 2080 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
3,239 2,764 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
3239 2764 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
4,307 2,989 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
4307 2989 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
4,244 2,094 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
4244 2094 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
6,195 2,045 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
6195 2045 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
4,369 2,372 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
4369 2372 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
3,490 1,887 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
3490 1887 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
4,832 2,437 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
4832 2437 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
3,979 2,093 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
3979 2093 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
3,350 2,335 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
3350 2335 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
7,846 6,526 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
7846 6526 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
4,786 2,349 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
4786 2349 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
4,539 3,137 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
4539 3137 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
4,097 2,128 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
4097 2128 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
3,687 125 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
3687 125 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
9,103 3,429 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
9103 3429 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
5,016 2,701 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
5016 2701 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
4,089 1,973 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
4089 1973 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
6,853 9,477 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
6853 9477 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
4,918 1,762 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
4918 1762 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
6,242 2,874 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
6242 2874 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
4,276 2,378 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
4276 2378 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
3,815 2,200 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
3815 2200 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
6,620 2,387 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
6620 2387 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
7,055 3,536 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
7055 3536 0
In Press
Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.953317
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954643
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954074
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953592
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