Congenital defects / diseases
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
2,388 2,998 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
2388 2998 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
2,734 3,026 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
2734 3026 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
2,783 2,170 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
2783 2170 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
2,487 1,846 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
2487 1846 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
2,967 2,341 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
2967 2341 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
4,165 2,812 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
4165 2812 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
2,955 3,158 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
2955 3158 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
3,062 2,051 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
3062 2051 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
3,536 1,923 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
3536 1923 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
2,344 3,295 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
2344 3295 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
2,209 1,644 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
2209 1644 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
3,034 1,850 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
3034 1850 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
5,374 5,533 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
5374 5533 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
3,328 2,456 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
3328 2456 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
1,955 1,603 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
1955 1603 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
4,662 2,460 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
4662 2460 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
2,069 1,672 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
2069 1672 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
3,768 3,141 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
3768 3141 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
3,058 2,200 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
3058 2200 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
4,077 2,532 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
4077 2532 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
4,039 1,647 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
4039 1647 0
10 Jan 2023 : Case report
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
6,032 1,515 0
10 Jan 2023 : Case report
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
6032 1515 0
23 Nov 2022 : Case report 
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
4,195 1,722 0
23 Nov 2022 : Case report
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
4195 1722 0
22 Oct 2022 : Case report
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
3,278 1,461 0
22 Oct 2022 : Case report
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
3278 1461 0
06 Oct 2022 : Case report 
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
4,547 1,850 0
06 Oct 2022 : Case report
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
4547 1850 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
Case report 
Am J Case Rep In Press; DOI: 10.12659/AJCR.950290
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950607
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950985
Most Viewed Current Articles
07 Dec 2021 : Case report
17,691,734
DOI :10.12659/AJCR.934347
Am J Case Rep 2021; 22:e934347
06 Dec 2021 : Case report
164,491
DOI :10.12659/AJCR.934406
Am J Case Rep 2021; 22:e934406
21 Jun 2024 : Case report
113,090
DOI :10.12659/AJCR.944371
Am J Case Rep 2024; 25:e944371
07 Mar 2024 : Case report
59,175
DOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133