Congenital defects / diseases
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
690 110 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
690 110 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
957 103 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
957 103 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
1,103 100 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
1103 100 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
837 112 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
837 112 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
1,110 75 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
1110 75 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
1,262 61 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
1262 61 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
1,721 88 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
1721 88 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
2,185 104 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
2185 104 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
1,336 74 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
1336 74 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
2,007 108 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
2007 108 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
1,665 88 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
1665 88 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
2,050 129 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
2050 129 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
1,882 97 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
1882 97 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
1,960 103 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
1960 103 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
1,523 82 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
1523 82 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
1,900 93 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
1900 93 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
2,308 85 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
2308 85 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
2,094 75 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
2094 75 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
2,961 116 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
2961 116 0
03 Oct 2022 : Case report
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 , Carmine Gianfranco Di Somma
DOI: 10.12659/AJCR.936964
Am J Case Rep 2022; 23:e936964
1,815 59 0
03 Oct 2022 : Case report
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 , Carmine Gianfranco Di Somma
DOI: 10.12659/AJCR.936964
Am J Case Rep 2022; 23:e936964
1815 59 0
15 Sep 2022 : Case report
Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report
Marek Porowski, Henryk Skarżyński , Piotr Henryk Skarzynski
DOI: 10.12659/AJCR.936466
Am J Case Rep 2022; 23:e936466
1,794 56 0
15 Sep 2022 : Case report
Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report
Marek Porowski, Henryk Skarżyński , Piotr Henryk Skarzynski
DOI: 10.12659/AJCR.936466
Am J Case Rep 2022; 23:e936466
1794 56 0
29 Jul 2022 : Case report
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
29 Jul 2022 : Case report
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
22 Aug 2022 : Case report 
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
22 Aug 2022 : Case report
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
17 Aug 2022 : Case report 
Right Heart Failure in a Patient with Critical Pulmonary Stenosis, Absent Right Pulmonary Artery, and Lung Cancer
Arthur Iturriagagoitia, Marc Vanderheyden, Werner Budts , Piet Vercauter
DOI: 10.12659/AJCR.937305
Am J Case Rep 2022; 23:e937305
2,282 75 0
17 Aug 2022 : Case report
Right Heart Failure in a Patient with Critical Pulmonary Stenosis, Absent Right Pulmonary Artery, and Lung Cancer
Arthur Iturriagagoitia, Marc Vanderheyden, Werner Budts , Piet Vercauter
DOI: 10.12659/AJCR.937305
Am J Case Rep 2022; 23:e937305
2282 75 0
26 Jun 2022 : Case report 
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
26 Jun 2022 : Case report
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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05 Dec 2023 : Case report
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01 Dec 2023 : Case report
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