Congenital defects / diseases

11 Mar 2024 : Case report
Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report
Jesús Martínez-García
, Sara F. Ordorica-Sandoval, Erick Rivera-Sainz, Manuel A. Beltrán-Salas, Nidia León-Sicairos, Adrian Canizalez-Roman
DOI: 10.12659/AJCR.942974
Am J Case Rep 2024; 25:e942974
3,526 3,933 0

11 Mar 2024 : Case report
Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report
Jesús Martínez-García
, Sara F. Ordorica-Sandoval, Erick Rivera-Sainz, Manuel A. Beltrán-Salas, Nidia León-Sicairos, Adrian Canizalez-Roman
DOI: 10.12659/AJCR.942974
Am J Case Rep 2024; 25:e942974
3526 3933 0

27 Feb 2024 : Case report
Cloacal Dysgenesis Sequence in a Preterm Neonate
Alexandra Vacaru, Mitchell M. Won, Steven L. Raymond, Joshua D. Chamberlin, Andrei Radulescu
DOI: 10.12659/AJCR.942203
Am J Case Rep 2024; 25:e942203
3,203 2,704 0

27 Feb 2024 : Case report
Cloacal Dysgenesis Sequence in a Preterm Neonate
Alexandra Vacaru, Mitchell M. Won, Steven L. Raymond, Joshua D. Chamberlin, Andrei Radulescu
DOI: 10.12659/AJCR.942203
Am J Case Rep 2024; 25:e942203
3203 2704 0

07 Mar 2024 : Case report
Successful Endoscopic Treatment of a Pancreatic Pseudocyst in a Patient with Situs Inversus Totalis and Upper GI Duplication
Marko Kozyk, Olexandr Y. Usenko, Steven A. Kessler, Viktor P. Shkarban, Ivan S. Tereshkevych, Ivan V. Babii, Oleksandr M. Sanzharov
, Kateryna Strubchevska
DOI: 10.12659/AJCR.942006
Am J Case Rep 2024; 25:e942006
2,265 2,144 0

07 Mar 2024 : Case report
Successful Endoscopic Treatment of a Pancreatic Pseudocyst in a Patient with Situs Inversus Totalis and Upper GI Duplication
Marko Kozyk, Olexandr Y. Usenko, Steven A. Kessler, Viktor P. Shkarban, Ivan S. Tereshkevych, Ivan V. Babii, Oleksandr M. Sanzharov
, Kateryna Strubchevska
DOI: 10.12659/AJCR.942006
Am J Case Rep 2024; 25:e942006
2265 2144 0

27 Feb 2024 : Case report
A Case of Left-Sided Acute Appendicitis in a 45-Year-Old Man with Situs Inversus Totalis Managed by Emergent Laparoscopic Appendectomy
Lord Mvoula, Tarek Khrisat, Meno Lueders
DOI: 10.12659/AJCR.942323
Am J Case Rep 2024; 25:e942323
2,701 4,665 0

27 Feb 2024 : Case report
A Case of Left-Sided Acute Appendicitis in a 45-Year-Old Man with Situs Inversus Totalis Managed by Emergent Laparoscopic Appendectomy
Lord Mvoula, Tarek Khrisat, Meno Lueders
DOI: 10.12659/AJCR.942323
Am J Case Rep 2024; 25:e942323
2701 4665 0

20 Feb 2024 : Case report
A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report
Kristina Hundarova
, Fernanda Geraldes
, Fernanda Águas
, Ângela Rodrigues
DOI: 10.12659/AJCR.942748
Am J Case Rep 2024; 25:e942748
2,561 3,506 0

20 Feb 2024 : Case report
A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report
Kristina Hundarova
, Fernanda Geraldes
, Fernanda Águas
, Ângela Rodrigues
DOI: 10.12659/AJCR.942748
Am J Case Rep 2024; 25:e942748
2561 3506 0

10 Feb 2024 : Case report
Reconstruction of an Eyelid Defect Associated with Congenital Coloboma in a 7-Month-Old Male Infant Using an Acellular Dermal Allograft
Wenhong Cao, Li Li, Yunwei Fan, Yuan Wang, Qian Wu
DOI: 10.12659/AJCR.942645
Am J Case Rep 2024; 25:e942645
2,814 3,544 0

10 Feb 2024 : Case report
Reconstruction of an Eyelid Defect Associated with Congenital Coloboma in a 7-Month-Old Male Infant Using an Acellular Dermal Allograft
Wenhong Cao, Li Li, Yunwei Fan, Yuan Wang, Qian Wu
DOI: 10.12659/AJCR.942645
Am J Case Rep 2024; 25:e942645
2814 3544 0

09 Jan 2024 : Case report
Delayed Emergence from Total Intravenous Anesthesia Following Posterior Spinal Correction and Fusion for Scoliosis: A Case Report
Osamu Hisatomi, Tetsuhiro Fujiyoshi, Sho Shinotsuka, Hirokazu Saiwai
, Midoriko Higashi
, Ken Yamaura
DOI: 10.12659/AJCR.941563
Am J Case Rep 2024; 25:e941563
2,948 2,446 0

09 Jan 2024 : Case report
Delayed Emergence from Total Intravenous Anesthesia Following Posterior Spinal Correction and Fusion for Scoliosis: A Case Report
Osamu Hisatomi, Tetsuhiro Fujiyoshi, Sho Shinotsuka, Hirokazu Saiwai
, Midoriko Higashi
, Ken Yamaura
DOI: 10.12659/AJCR.941563
Am J Case Rep 2024; 25:e941563
2948 2446 0

28 Dec 2023 : Case report
Early Diagnosis of Late-Onset Below-Level Neuropathic Pain in an 83 Year-Old Incomplete Tetraplegic Patient: A Charcot Spinal Neuro-Arthropathy Case Report
Giulio Bertero
, Audrey Wetzel-Weaver
, Xavier Jordan
DOI: 10.12659/AJCR.940830
Am J Case Rep 2023; 24:e940830
2,662 2,229 0

28 Dec 2023 : Case report
Early Diagnosis of Late-Onset Below-Level Neuropathic Pain in an 83 Year-Old Incomplete Tetraplegic Patient: A Charcot Spinal Neuro-Arthropathy Case Report
Giulio Bertero
, Audrey Wetzel-Weaver
, Xavier Jordan
DOI: 10.12659/AJCR.940830
Am J Case Rep 2023; 24:e940830
2662 2229 0

27 Dec 2023 : Case report
Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report
Olena Mahneva, Vanessa Victor-Linkenhoker
DOI: 10.12659/AJCR.942239
Am J Case Rep 2023; 24:e942239
3,105 2,773 0

27 Dec 2023 : Case report
Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report
Olena Mahneva, Vanessa Victor-Linkenhoker
DOI: 10.12659/AJCR.942239
Am J Case Rep 2023; 24:e942239
3105 2773 0

13 Dec 2023 : Case report
A 28-Year-Old Woman with Down Syndrome, Congenital Heart Disease, and a History of Knee Surgery and Plantar Fasciitis, with Hallux Abducto Valgus (Bunion) and Lapiplasty Three-Dimensional Correction Surgery
Eduardo Simón-Pérez
, Rodrigo Jiménez-Martín, Luke D. Cicchinelli, Javier Fernández Yagüe, Clarisa Simón-Pérez
, Joaquin Paez-Moguer
, Antonio Cortés-Rodríguez
, Alejandro Castillo-Domínguez
DOI: 10.12659/AJCR.940879
Am J Case Rep 2023; 24:e940879
4,310 3,083 0

13 Dec 2023 : Case report
A 28-Year-Old Woman with Down Syndrome, Congenital Heart Disease, and a History of Knee Surgery and Plantar Fasciitis, with Hallux Abducto Valgus (Bunion) and Lapiplasty Three-Dimensional Correction Surgery
Eduardo Simón-Pérez
, Rodrigo Jiménez-Martín, Luke D. Cicchinelli, Javier Fernández Yagüe, Clarisa Simón-Pérez
, Joaquin Paez-Moguer
, Antonio Cortés-Rodríguez
, Alejandro Castillo-Domínguez
DOI: 10.12659/AJCR.940879
Am J Case Rep 2023; 24:e940879
4310 3083 0

26 Oct 2023 : Case report
Case Report: 5 Cases of Variant Hypoplastic Left Heart Syndrome Diagnosed on Prenatal Fetal Ultrasound
Adhi Pribadi
, Amillia Siddiq, Annisa Dewi Nugrahani
, Dhanny Primantara Johari Santoso
DOI: 10.12659/AJCR.940871
Am J Case Rep 2023; 24:e940871
3,113 3,898 0

26 Oct 2023 : Case report
Case Report: 5 Cases of Variant Hypoplastic Left Heart Syndrome Diagnosed on Prenatal Fetal Ultrasound
Adhi Pribadi
, Amillia Siddiq, Annisa Dewi Nugrahani
, Dhanny Primantara Johari Santoso
DOI: 10.12659/AJCR.940871
Am J Case Rep 2023; 24:e940871
3113 3898 0

13 Oct 2023 : Case report
Improved Surgical Outcomes in Adults with Congenital Heart Disease and Decompensated Heart Failure: The Role of Perioperative Medical Optimization
Anton Minaev
, Vladimir Podzolkov, Timur Danilov, Mikhail Chiaureli, Bupe Mumba Mwela
, Vera Dontsova
DOI: 10.12659/AJCR.939230
Am J Case Rep 2023; 24:e939230
3,272 2,393 0

13 Oct 2023 : Case report
Improved Surgical Outcomes in Adults with Congenital Heart Disease and Decompensated Heart Failure: The Role of Perioperative Medical Optimization
Anton Minaev
, Vladimir Podzolkov, Timur Danilov, Mikhail Chiaureli, Bupe Mumba Mwela
, Vera Dontsova
DOI: 10.12659/AJCR.939230
Am J Case Rep 2023; 24:e939230
3272 2393 0

29 Sep 2023 : Case report
Live Birth from Cryopreserved Oocyte After Uterus Transplantation: A Case Report
Paolo Scollo
, Giuseppe Scibilia
, Maria Elena Vento
, Placido Borzì
, Pierfrancesco Veroux
, Liliana Mereu
, Basilio Pecorino
DOI: 10.12659/AJCR.940960
Am J Case Rep 2023; 24:e940960
3,719 2,216 0

29 Sep 2023 : Case report
Live Birth from Cryopreserved Oocyte After Uterus Transplantation: A Case Report
Paolo Scollo
, Giuseppe Scibilia
, Maria Elena Vento
, Placido Borzì
, Pierfrancesco Veroux
, Liliana Mereu
, Basilio Pecorino
DOI: 10.12659/AJCR.940960
Am J Case Rep 2023; 24:e940960
3719 2216 0

16 Sep 2023 : Case report
Tourniquet-Related Nerve Injury Following Reconstructive Surgery for Wassel Type IV Preaxial Polydactyly of 13-Year-Old Boy: A Case Report
Hilmi Muhammad
, Lulus Hardiyanti, Saeful Anwar, Faishal Hanif, Adist Azizy Mara Ditta, Indra Sari Kusuma Harahap
DOI: 10.12659/AJCR.940977
Am J Case Rep 2023; 24:e940977
2,502 4,017 0

16 Sep 2023 : Case report
Tourniquet-Related Nerve Injury Following Reconstructive Surgery for Wassel Type IV Preaxial Polydactyly of 13-Year-Old Boy: A Case Report
Hilmi Muhammad
, Lulus Hardiyanti, Saeful Anwar, Faishal Hanif, Adist Azizy Mara Ditta, Indra Sari Kusuma Harahap
DOI: 10.12659/AJCR.940977
Am J Case Rep 2023; 24:e940977
2502 4017 0

12 Aug 2023 : Case report
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
2,341 1,936 0

12 Aug 2023 : Case report
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
2341 1936 0

13 Jun 2023 : Case report
Preoperative Contrast Examinations Help Determine the Appropriate Cervical Approach for Congenital Gross Type C Esophageal Atresia: A Report of Two Cases
Yoichi Nakagawa
, Hiroo Uchida
, Chiyoe Shirota, Takahisa Tainaka
, Wataru Sumida, Satoshi Makita
, Hizuru Amano, Aitaro Takimoto, Seiya Ogata, Shunya Takada
, Takuya Maeda, Yousuke Gohda, Yaohui Guo, Akinari Hinoki
DOI: 10.12659/AJCR.938723
Am J Case Rep 2023; 24:e938723
3,176 2,110 0

13 Jun 2023 : Case report
Preoperative Contrast Examinations Help Determine the Appropriate Cervical Approach for Congenital Gross Type C Esophageal Atresia: A Report of Two Cases
Yoichi Nakagawa
, Hiroo Uchida
, Chiyoe Shirota, Takahisa Tainaka
, Wataru Sumida, Satoshi Makita
, Hizuru Amano, Aitaro Takimoto, Seiya Ogata, Shunya Takada
, Takuya Maeda, Yousuke Gohda, Yaohui Guo, Akinari Hinoki
DOI: 10.12659/AJCR.938723
Am J Case Rep 2023; 24:e938723
3176 2110 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
5,624 6,053 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
5624 6053 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
3,494 2,793 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
3494 2793 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
2,057 1,884 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
2057 1884 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
4,782 2,699 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
4782 2699 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
2,165 1,852 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
2165 1852 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
3,901 3,927 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
3901 3927 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
3,152 2,418 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
3152 2418 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
4,208 2,746 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
4208 2746 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
4,169 1,859 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
4169 1859 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952909
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950868
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952931
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952577
Most Viewed Current Articles
07 Dec 2021 : Case report
22,759,844
DOI :10.12659/AJCR.934347
Am J Case Rep 2021; 22:e934347
06 Dec 2021 : Case report
176,022
DOI :10.12659/AJCR.934406
Am J Case Rep 2021; 22:e934406
21 Jun 2024 : Case report
120,540
DOI :10.12659/AJCR.944371
Am J Case Rep 2024; 25:e944371
07 Mar 2024 : Case report
65,552
DOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
