Congenital defects / diseases

27 Feb 2023 : Case report USA

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

4,067 4,897 0

27 Feb 2023 : Case report USA

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

4067 4897 0

16 Feb 2023 : Case report South Korea

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

2,260 2,152 0

16 Feb 2023 : Case report South Korea

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

2260 2152 0

11 Feb 2023 : Case report Indonesia

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

3,263 2,828 0

11 Feb 2023 : Case report Indonesia

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

3263 2828 0

09 Feb 2023 : Case report Brazil

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

4,348 3,115 0

09 Feb 2023 : Case report Brazil

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

4348 3115 0

24 Jan 2023 : Case report Israel

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

4,262 2,137 0

24 Jan 2023 : Case report Israel

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

4262 2137 0

10 Jan 2023 : Case report USA

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

6,215 2,137 0

10 Jan 2023 : Case report USA

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

6215 2137 0

23 Nov 2022 : Case report Poland

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

4,391 2,448 0

23 Nov 2022 : Case report Poland

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

4391 2448 0

22 Oct 2022 : Case report Poland

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

3,515 1,938 0

22 Oct 2022 : Case report Poland

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

DOI: 10.12659/AJCR.936135

Am J Case Rep 2022; 23:e936135

3515 1938 0

06 Oct 2022 : Case report Saudi Arabia

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

4,859 2,502 0

06 Oct 2022 : Case report Saudi Arabia

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

4859 2502 0

03 Oct 2022 : Case report Italy

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

4,009 2,147 0

03 Oct 2022 : Case report Italy

Laparoscopic Splenectomy of a Wandering Pelvic Splenomegaly in a Young Woman Treated in Childhood with Surgery for Diaphragmatic Hernia and Adhesiolysis for Intestinal Obstruction

DOI: 10.12659/AJCR.936964

Am J Case Rep 2022; 23:e936964

4009 2147 0

15 Sep 2022 : Case report Poland

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

3,369 2,417 0

15 Sep 2022 : Case report Poland

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

3369 2417 0

22 Aug 2022 : Case report Morocco

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

7,870 6,622 0

22 Aug 2022 : Case report Morocco

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

7870 6622 0

17 Aug 2022 : Case report Belgium

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

4,813 2,412 0

17 Aug 2022 : Case report Belgium

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

4813 2412 0

29 Jul 2022 : Case report Saudi Arabia

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

4,571 3,227 0

29 Jul 2022 : Case report Saudi Arabia

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

4571 3227 0

26 Jun 2022 : Case report Thailand

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

4,116 2,192 0

26 Jun 2022 : Case report Thailand

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

4116 2192 0

24 Jun 2022 : Case report Italy

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

3,739 125 0

24 Jun 2022 : Case report Italy

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

3739 125 0

06 Jun 2022 : Case report USA

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

9,143 3,546 0

06 Jun 2022 : Case report USA

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

9143 3546 0

04 Jun 2022 : Case report Italy

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

5,052 2,771 0

04 Jun 2022 : Case report Italy

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

5052 2771 0

18 May 2022 : Case report Puerto Rico

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

4,122 2,051 0

18 May 2022 : Case report Puerto Rico

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

4122 2051 0

17 Apr 2022 : Case report Italy

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

6,891 9,661 0

17 Apr 2022 : Case report Italy

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

6891 9661 0

21 Mar 2022 : Case report Poland

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

4,950 1,809 0

21 Mar 2022 : Case report Poland

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

4950 1809 0

24 Feb 2022 : Case report Saudi Arabia

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

6,291 2,940 0

24 Feb 2022 : Case report Saudi Arabia

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

6291 2940 0

22 Feb 2022 : Case report USA

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

4,304 2,449 0

22 Feb 2022 : Case report USA

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

4304 2449 0

01 Feb 2022 : Case report USA

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

3,828 2,323 0

01 Feb 2022 : Case report USA

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

3828 2323 0

18 Jan 2022 : Case report Thailand

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

6,676 2,465 0

18 Jan 2022 : Case report Thailand

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

6676 2465 0

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Congenital defects / diseases

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