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Congenital defects / diseases

#940871

26 Oct 2023 : Case report  Indonesia

Case Report: 5 Cases of Variant Hypoplastic Left Heart Syndrome Diagnosed on Prenatal Fetal Ultrasound

Adhi Pribadi ORCID logo, Amillia Siddiq, Annisa Dewi Nugrahani ORCID logo, Dhanny Primantara Johari Santoso ORCID logo

DOI: 10.12659/AJCR.940871

Am J Case Rep 2023; 24:e940871

690 110 0

#940871

26 Oct 2023 : Case report  Indonesia

Case Report: 5 Cases of Variant Hypoplastic Left Heart Syndrome Diagnosed on Prenatal Fetal Ultrasound

Adhi Pribadi ORCID logo, Amillia Siddiq, Annisa Dewi Nugrahani ORCID logo, Dhanny Primantara Johari Santoso ORCID logo

DOI: 10.12659/AJCR.940871

Am J Case Rep 2023; 24:e940871

690 110 0

#939230

13 Oct 2023 : Case report  Russian Federation

Improved Surgical Outcomes in Adults with Congenital Heart Disease and Decompensated Heart Failure: The Role of Perioperative Medical Optimization

Anton Minaev ORCID logo, Vladimir Podzolkov, Timur Danilov, Mikhail Chiaureli, Bupe Mumba Mwela ORCID logo, Vera Dontsova

DOI: 10.12659/AJCR.939230

Am J Case Rep 2023; 24:e939230

957 103 0

#939230

13 Oct 2023 : Case report  Russian Federation

Improved Surgical Outcomes in Adults with Congenital Heart Disease and Decompensated Heart Failure: The Role of Perioperative Medical Optimization

Anton Minaev ORCID logo, Vladimir Podzolkov, Timur Danilov, Mikhail Chiaureli, Bupe Mumba Mwela ORCID logo, Vera Dontsova

DOI: 10.12659/AJCR.939230

Am J Case Rep 2023; 24:e939230

957 103 0

#940960

29 Sep 2023 : Case report  Italy

Live Birth from Cryopreserved Oocyte After Uterus Transplantation: A Case Report

Paolo Scollo ORCID logo, Giuseppe Scibilia ORCID logo, Maria Elena Vento ORCID logo, Placido Borzì ORCID logo, Pierfrancesco Veroux ORCID logo, Liliana Mereu ORCID logo, Basilio Pecorino ORCID logo

DOI: 10.12659/AJCR.940960

Am J Case Rep 2023; 24:e940960

1,103 100 0

#940960

29 Sep 2023 : Case report  Italy

Live Birth from Cryopreserved Oocyte After Uterus Transplantation: A Case Report

Paolo Scollo ORCID logo, Giuseppe Scibilia ORCID logo, Maria Elena Vento ORCID logo, Placido Borzì ORCID logo, Pierfrancesco Veroux ORCID logo, Liliana Mereu ORCID logo, Basilio Pecorino ORCID logo

DOI: 10.12659/AJCR.940960

Am J Case Rep 2023; 24:e940960

1103 100 0

#940977

16 Sep 2023 : Case report  Indonesia

Tourniquet-Related Nerve Injury Following Reconstructive Surgery for Wassel Type IV Preaxial Polydactyly of 13-Year-Old Boy: A Case Report

Hilmi Muhammad ORCID logo, Lulus Hardiyanti, Saeful Anwar, Faishal Hanif, Adist Azizy Mara Ditta, Indra Sari Kusuma Harahap ORCID logo

DOI: 10.12659/AJCR.940977

Am J Case Rep 2023; 24:e940977

837 112 0

#940977

16 Sep 2023 : Case report  Indonesia

Tourniquet-Related Nerve Injury Following Reconstructive Surgery for Wassel Type IV Preaxial Polydactyly of 13-Year-Old Boy: A Case Report

Hilmi Muhammad ORCID logo, Lulus Hardiyanti, Saeful Anwar, Faishal Hanif, Adist Azizy Mara Ditta, Indra Sari Kusuma Harahap ORCID logo

DOI: 10.12659/AJCR.940977

Am J Case Rep 2023; 24:e940977

837 112 0

#918041

12 Aug 2023 : Case report  Puerto Rico

Neurofibromatosis Type I Presenting with Incomplete Ileal Volvulus in a Pediatric Patient

Ricardo R. Rivera Fernández, Karina J. Cancel Artau, Carlos R. Añeses Gonzalez, Maria S. Correa Rivas, Edgardo Cintron Diaz, Victor Ortiz Justiniano, Jose Lara del Río

DOI: 10.12659/AJCR.918041

Am J Case Rep 2023; 24:e918041

1,110 75 0

#918041

12 Aug 2023 : Case report  Puerto Rico

Neurofibromatosis Type I Presenting with Incomplete Ileal Volvulus in a Pediatric Patient

Ricardo R. Rivera Fernández, Karina J. Cancel Artau, Carlos R. Añeses Gonzalez, Maria S. Correa Rivas, Edgardo Cintron Diaz, Victor Ortiz Justiniano, Jose Lara del Río

DOI: 10.12659/AJCR.918041

Am J Case Rep 2023; 24:e918041

1110 75 0

#938723

13 Jun 2023 : Case report  Japan

Preoperative Contrast Examinations Help Determine the Appropriate Cervical Approach for Congenital Gross Type C Esophageal Atresia: A Report of Two Cases

Yoichi Nakagawa ORCID logo, Hiroo Uchida ORCID logo, Chiyoe Shirota, Takahisa Tainaka ORCID logo, Wataru Sumida, Satoshi Makita ORCID logo, Hizuru Amano, Aitaro Takimoto, Seiya Ogata, Shunya Takada ORCID logo, Takuya Maeda, Yousuke Gohda, Yaohui Guo, Akinari Hinoki ORCID logo

DOI: 10.12659/AJCR.938723

Am J Case Rep 2023; 24:e938723

1,262 61 0

#938723

13 Jun 2023 : Case report  Japan

Preoperative Contrast Examinations Help Determine the Appropriate Cervical Approach for Congenital Gross Type C Esophageal Atresia: A Report of Two Cases

Yoichi Nakagawa ORCID logo, Hiroo Uchida ORCID logo, Chiyoe Shirota, Takahisa Tainaka ORCID logo, Wataru Sumida, Satoshi Makita ORCID logo, Hizuru Amano, Aitaro Takimoto, Seiya Ogata, Shunya Takada ORCID logo, Takuya Maeda, Yousuke Gohda, Yaohui Guo, Akinari Hinoki ORCID logo

DOI: 10.12659/AJCR.938723

Am J Case Rep 2023; 24:e938723

1262 61 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

1,721 88 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

1721 88 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

2,185 104 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

2185 104 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

1,336 74 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

1336 74 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

2,007 108 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

2007 108 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

1,665 88 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

1665 88 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

2,050 129 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

2050 129 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

1,882 97 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

1882 97 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

1,960 103 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

1960 103 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

1,523 82 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

1523 82 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

1,900 93 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

1900 93 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

2,308 85 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

2308 85 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

2,094 75 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

2094 75 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

2,961 116 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

2961 116 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

1,815 59 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

1815 59 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

1,794 56 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

1794 56 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

2,977 161 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

2977 161 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

4,866 104 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

4866 104 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

2,282 75 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

2282 75 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

1,869 72 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

1869 72 0

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Novel Mini-Invasive Surgical Technique for Treating Fifth Metacarpal Neck Fractures: A Case Report

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