Congenital defects / diseases
08 Apr 2024 : Case report 
Importance of Prenatal Diagnosis of Ileal Atresia in Gestational Diabetes Cases
Sorina Cristina Chelu, Nilima Rajpal Kundnani 
, Daciana Nistor , Veronica Daniela Chiriac, Giorgiana Flavia Brad, Simona Cerbu, Mihaela Adela Iancu, Claudia Borza
DOI: 10.12659/AJCR.942838
Am J Case Rep 2024; 25:e942838
627 51 0
08 Apr 2024 : Case report
Importance of Prenatal Diagnosis of Ileal Atresia in Gestational Diabetes Cases
Sorina Cristina Chelu, Nilima Rajpal Kundnani , Daciana Nistor , Veronica Daniela Chiriac, Giorgiana Flavia Brad, Simona Cerbu, Mihaela Adela Iancu, Claudia Borza
DOI: 10.12659/AJCR.942838
Am J Case Rep 2024; 25:e942838
627 51 0
24 Apr 2024 : Case report 
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
Monika Duś-Żuchowska , Hanna Nowak , Łukasz Kałużny , Dariusz Rokicki , Elżbieta Ciara , Dorota Piekutowska-Abramczuk , Jarosław Walkowiak
DOI: 10.12659/AJCR.943118
Am J Case Rep 2024; 25:e943118
176 43 0
24 Apr 2024 : Case report
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
Monika Duś-Żuchowska , Hanna Nowak , Łukasz Kałużny , Dariusz Rokicki , Elżbieta Ciara , Dorota Piekutowska-Abramczuk , Jarosław Walkowiak
DOI: 10.12659/AJCR.943118
Am J Case Rep 2024; 25:e943118
176 43 0
24 Apr 2024 : Case report 
Laparoscopic Sleeve Gastrectomy with Staple-Line Oversewing in a Patient with Factor XI Deficiency: A Case Report
Lorenza Beomonte Zobel , Sirvjo Dhimolea, Federica Billeci, Paolo Sbraccia, Giuseppe S. Sica
DOI: 10.12659/AJCR.942824
Am J Case Rep 2024; 25:e942824
163 53 0
24 Apr 2024 : Case report
Laparoscopic Sleeve Gastrectomy with Staple-Line Oversewing in a Patient with Factor XI Deficiency: A Case Report
Lorenza Beomonte Zobel , Sirvjo Dhimolea, Federica Billeci, Paolo Sbraccia, Giuseppe S. Sica
DOI: 10.12659/AJCR.942824
Am J Case Rep 2024; 25:e942824
163 53 0
19 Apr 2024 : Case report 
Simultaneous Transcatheter Closure of a Ventricular Septal Defect and Pulmonary Valvuloplasty: A Case Report
Baraa Alghalyini , Abdul Rehman Zia Zaidi, Hadeel Khalid Bin Shuiel, Nouf Abdullah Alyabis, Mohammed Khalid Bin Shuayl, Ihab Suliman
DOI: 10.12659/AJCR.942032
Am J Case Rep 2024; 25:e942032
682 85 0
19 Apr 2024 : Case report
Simultaneous Transcatheter Closure of a Ventricular Septal Defect and Pulmonary Valvuloplasty: A Case Report
Baraa Alghalyini , Abdul Rehman Zia Zaidi, Hadeel Khalid Bin Shuiel, Nouf Abdullah Alyabis, Mohammed Khalid Bin Shuayl, Ihab Suliman
DOI: 10.12659/AJCR.942032
Am J Case Rep 2024; 25:e942032
682 85 0
06 Mar 2024 : Case report
Enhanced Diagnostic Capabilities: Ultrasound Imaging of Fetal Alimentary Tract Obstruction with Advanced Imaging Technologies
Daniel Wolder , Adrian Swat , Przemysław Wolak , Anna Zmelonek-Znamirowska , Katarzyna Białek, Wojciech Rokita, Piotr Kaczmarek, Grzegorz Świercz
DOI: 10.12659/AJCR.943419
Am J Case Rep 2024; 25:e943419
636 63 0
06 Mar 2024 : Case report
Enhanced Diagnostic Capabilities: Ultrasound Imaging of Fetal Alimentary Tract Obstruction with Advanced Imaging Technologies
Daniel Wolder , Adrian Swat , Przemysław Wolak , Anna Zmelonek-Znamirowska , Katarzyna Białek, Wojciech Rokita, Piotr Kaczmarek, Grzegorz Świercz
DOI: 10.12659/AJCR.943419
Am J Case Rep 2024; 25:e943419
636 63 0
26 Mar 2024 : Case report
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Mohammed Shahab Uddin , AlZahra Y. Alradhi , Fahad Mushbb N. Alqathani , Othman Saleh Alessa , Ahmed Nawfal M. Alshammari , Ratna Tripathy, Mohammed Ahmed Alomari
DOI: 10.12659/AJCR.942498
Am J Case Rep 2024; 25:e942498
991 93 0
26 Mar 2024 : Case report
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Mohammed Shahab Uddin , AlZahra Y. Alradhi , Fahad Mushbb N. Alqathani , Othman Saleh Alessa , Ahmed Nawfal M. Alshammari , Ratna Tripathy, Mohammed Ahmed Alomari
DOI: 10.12659/AJCR.942498
Am J Case Rep 2024; 25:e942498
991 93 0
31 Mar 2024 : Case report 
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case Report
Leslie R. Elmore, Christopher Esper, Andrei I. Gritsiuta , Jorge Lara-Gutierrez, Patrick Downs, Jon Henwood
DOI: 10.12659/AJCR.942839
Am J Case Rep 2024; 25:e942839
721 65 0
31 Mar 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case Report
Leslie R. Elmore, Christopher Esper, Andrei I. Gritsiuta , Jorge Lara-Gutierrez, Patrick Downs, Jon Henwood
DOI: 10.12659/AJCR.942839
Am J Case Rep 2024; 25:e942839
721 65 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
1,246 48 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
1246 48 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
1,404 92 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
1404 92 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
861 59 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
861 59 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
1,379 65 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
1379 65 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
1,154 72 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
1154 72 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
1,307 78 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
1307 78 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
1,289 54 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
1289 54 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
1,382 51 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
1382 51 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
1,698 58 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
1698 58 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
1,595 31 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
1595 31 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
1,566 89 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
1566 89 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
1,597 78 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
1597 78 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
2,091 80 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
2091 80 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
1,185 81 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
1185 81 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
1,204 66 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
1204 66 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
2,010 56 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
2010 56 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
3,023 71 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
3023 71 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
1,828 86 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
1828 86 0
In Press
16 Mar 2024 : Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.943010
16 Mar 2024 : Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.943687
17 Mar 2024 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.943070
17 Mar 2024 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.943370
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07 Mar 2024 : Case report
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19 Jul 2022 : Case report
DOI :10.12659/AJCR.936128
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23 Feb 2022 : Case report
DOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250