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Congenital defects / diseases

#939016

11 May 2023 : Case report  Japan

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 ORCID logo

DOI: 10.12659/AJCR.939016

Am J Case Rep 2023; 24:e939016

525 53 0

#939016

11 May 2023 : Case report  Japan

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 ORCID logo

DOI: 10.12659/AJCR.939016

Am J Case Rep 2023; 24:e939016

525 53 0

#938651

09 May 2023 : Case report  USA

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

#938651

09 May 2023 : Case report  USA

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

#939450

07 Apr 2023 : Case report  Australia

Case of Amaurosis Fugax in the Setting of a Persistent Primitive Hypoglossal Artery Requiring Carotid Endarterectomy with Regional Anesthesia

Stacey Telianidis ORCID logo, Mark J. Westcott ORCID logo, Craig M. Ironfield ORCID logo, Lauren M. Sanders ORCID logo

DOI: 10.12659/AJCR.939450

Am J Case Rep 2023; 24:e939450

656 42 0

#939450

07 Apr 2023 : Case report  Australia

Case of Amaurosis Fugax in the Setting of a Persistent Primitive Hypoglossal Artery Requiring Carotid Endarterectomy with Regional Anesthesia

Stacey Telianidis ORCID logo, Mark J. Westcott ORCID logo, Craig M. Ironfield ORCID logo, Lauren M. Sanders ORCID logo

DOI: 10.12659/AJCR.939450

Am J Case Rep 2023; 24:e939450

656 42 0

#938248

24 Mar 2023 : Case report  USA

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 ORCID logo, Steven L. Raymond, Andrew Sundin ORCID logo, Andrei Radulescu, Faraz A. Khan

DOI: 10.12659/AJCR.938248

Am J Case Rep 2023; 24:e938248

948 75 0

#938248

24 Mar 2023 : Case report  USA

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 ORCID logo, Steven L. Raymond, Andrew Sundin ORCID logo, Andrei Radulescu, Faraz A. Khan

DOI: 10.12659/AJCR.938248

Am J Case Rep 2023; 24:e938248

948 75 0

#938569

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

973 52 0

#938569

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

973 52 0

#938889

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

1118 87 0

#938889

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

1118 87 0

#939011

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

1012 58 0

#939011

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

1012 58 0

#938670

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

947 62 0

#938670

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

947 62 0

#938507

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

894 55 0

#938507

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

894 55 0

#937665

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

1112 62 0

#937665

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

1112 62 0

#938414

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

1653 73 0

#938414

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

1653 73 0

#936135

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 ORCID logo, Witold Chudziński ORCID logo, Krystian Jażdżewski, Monika Kolanowska, Magdalena Bogdańska, Aleksandra Starzyńska-Kubicka ORCID logo, Zbigniew Gałązka

DOI: 10.12659/AJCR.936135

Am J Case Rep 2022; 23:e936135

1479 63 0

#936135

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 ORCID logo, Witold Chudziński ORCID logo, Krystian Jażdżewski, Monika Kolanowska, Magdalena Bogdańska, Aleksandra Starzyńska-Kubicka ORCID logo, Zbigniew Gałązka

DOI: 10.12659/AJCR.936135

Am J Case Rep 2022; 23:e936135

1479 63 0

#935840

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 ORCID logo, Saleh Al Fulayyih ORCID logo, Fatin Fahad Al Denaini ORCID logo, Maher Mohammed Al Hatlani

DOI: 10.12659/AJCR.935840

Am J Case Rep 2022; 23:e935840

2215 97 0

#935840

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 ORCID logo, Saleh Al Fulayyih ORCID logo, Fatin Fahad Al Denaini ORCID logo, Maher Mohammed Al Hatlani

DOI: 10.12659/AJCR.935840

Am J Case Rep 2022; 23:e935840

2215 97 0

#936964

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 ORCID logo, Carmine Gianfranco Di Somma

DOI: 10.12659/AJCR.936964

Am J Case Rep 2022; 23:e936964

1270 47 0

#936964

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 ORCID logo, Carmine Gianfranco Di Somma

DOI: 10.12659/AJCR.936964

Am J Case Rep 2022; 23:e936964

1270 47 0

#936466

15 Sep 2022 : Case report  Poland

Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report

Marek Porowski, Henryk Skarżyński ORCID logo, Piotr Henryk Skarzynski ORCID logo

DOI: 10.12659/AJCR.936466

Am J Case Rep 2022; 23:e936466

1130 45 0

#936466

15 Sep 2022 : Case report  Poland

Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report

Marek Porowski, Henryk Skarżyński ORCID logo, Piotr Henryk Skarzynski ORCID logo

DOI: 10.12659/AJCR.936466

Am J Case Rep 2022; 23:e936466

1130 45 0

#937224

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

2120 150 0

#937224

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

2120 150 0

#935544

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

2707 92 0

#935544

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

2707 92 0

#937305

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 ORCID logo, Piet Vercauter

DOI: 10.12659/AJCR.937305

Am J Case Rep 2022; 23:e937305

1726 61 0

#937305

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 ORCID logo, Piet Vercauter

DOI: 10.12659/AJCR.937305

Am J Case Rep 2022; 23:e937305

1726 61 0

#935921

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

1389 61 0

#935921

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

1389 61 0

#936142

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

944 70 0

#936142

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

944 70 0

#936659

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

2182 82 0

#936659

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

2182 82 0

#935413

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 ORCID logo, 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

#935413

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 ORCID logo, 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

#935526

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

1712 51 0

#935526

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

1712 51 0

#936146

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

3885 136 0

#936146

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

3885 136 0

#934802

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

2205 69 0

#934802

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

2205 69 0

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In Press

09 Jun 2023 : Case report  Japan

Venous Thoracic Outlet Syndrome with an Upper Extremity Deep Vein Thrombosis Caused by a Dislocated Clavicl...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939250  

08 Jun 2023 : Case report  Latvia

Chylothorax: A Tangled Road to Definitive Diagnosis of Non-Hodgkin Lymphoma

Am J Case Rep In Press; DOI: 10.12659/AJCR.939098  

06 Jun 2023 : Case report  Saudi Arabia

A Classical Case of Cesarean Scar Endometriosis in a 35-Year-Old Woman Presenting with Cyclical Abdominal P...

Am J Case Rep In Press; DOI: 10.12659/AJCR.940200  

05 Jun 2023 : Case report  USA

Peri-Hilar Cystic Lymphangioma Mimicking a Biliary Cystic Lesion Causing Biliary Obstruction: A Case Report...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939421  

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06 Dec 2021 : Case report  Brazil

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

13 Jul 2022 : Case report  USA

Whistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound

DOI :10.12659/AJCR.936441

Am J Case Rep 2022; 23:e936441

07 Dec 2021 : Case report  USA

Edwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...

DOI :10.12659/AJCR.934347

Am J Case Rep 2021; 22:e934347

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923