Congenital defects / diseases
16 Apr 2018 : Case report 
Left Upper-Quadrant Appendicitis in a Patient with Congenital Intestinal Malrotation and Polysplenia
Camille Lupiañez-Merly, Stephanie C. Torres-Ayala, Lorena Morales, Adel Gonzalez, José A. Lara-Del Rio, Ivonne Ojeda-Boscana
DOI: 10.12659/AJCR.908276
Am J Case Rep 2018; 19:447-452
1,667 26 0
16 Apr 2018 : Case report
Left Upper-Quadrant Appendicitis in a Patient with Congenital Intestinal Malrotation and Polysplenia
Camille Lupiañez-Merly, Stephanie C. Torres-Ayala, Lorena Morales, Adel Gonzalez, José A. Lara-Del Rio, Ivonne Ojeda-Boscana
DOI: 10.12659/AJCR.908276
Am J Case Rep 2018; 19:447-452
1667 26 0
29 Mar 2018 : Case report 
Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant
Sheryl L. Johnson, Lauren C. Walters-Sen, Jerzy W. Stanek
DOI: 10.12659/AJCR.907329
Am J Case Rep 2018; 19:369-373
1,482 25 0
29 Mar 2018 : Case report
Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant
Sheryl L. Johnson, Lauren C. Walters-Sen, Jerzy W. Stanek
DOI: 10.12659/AJCR.907329
Am J Case Rep 2018; 19:369-373
1482 25 0
23 Jan 2018 : Case report 
A Bone Conduction Implantable Device as a Functional Treatment Option in Unilateral Microtia with Bilateral Stapes Ankylosis: A Report of Two Cases
Diego Zanetti, Federica Di Berardino
DOI: 10.12659/AJCR.904907
Am J Case Rep 2018; 19:82-89
2,341 38 0
23 Jan 2018 : Case report
A Bone Conduction Implantable Device as a Functional Treatment Option in Unilateral Microtia with Bilateral Stapes Ankylosis: A Report of Two Cases
Diego Zanetti, Federica Di Berardino
DOI: 10.12659/AJCR.904907
Am J Case Rep 2018; 19:82-89
2341 38 0
01 Jan 2018 : Case report 
Congenital Cystic Adenomatoid Malformation Diagnosed During First-Trimester Ultrasound Scan
Georges A. Markou, Georgios Dafereras, Christophe Poncelet
DOI: 10.12659/AJCR.906832
Am J Case Rep 2018; 19:1-4
1,255 63 0
01 Jan 2018 : Case report
Congenital Cystic Adenomatoid Malformation Diagnosed During First-Trimester Ultrasound Scan
Georges A. Markou, Georgios Dafereras, Christophe Poncelet
DOI: 10.12659/AJCR.906832
Am J Case Rep 2018; 19:1-4
1255 63 0
15 Dec 2017 : Case report
Incidental Anatomic Finding of Celiacomesenteric Trunk Associated with ‘Nutcracker Phenomenon,’ or Compression of the Left Renal Vein
Joshua Peterson, Anthony N. Hage, Stephan Diljak, Benjamin D. Long, Daniel P. Marcusa, John M. Stribley, David W. Brzezinski, Jonathan Eliason
DOI: 10.12659/AJCR.906283
Am J Case Rep 2017; 18:1334-1342
1,444 23 0
15 Dec 2017 : Case report
Incidental Anatomic Finding of Celiacomesenteric Trunk Associated with ‘Nutcracker Phenomenon,’ or Compression of the Left Renal Vein
Joshua Peterson, Anthony N. Hage, Stephan Diljak, Benjamin D. Long, Daniel P. Marcusa, John M. Stribley, David W. Brzezinski, Jonathan Eliason
DOI: 10.12659/AJCR.906283
Am J Case Rep 2017; 18:1334-1342
1444 23 0
11 Dec 2017 : Case report 
Gallbladder Hypoplasia, a Congenital Abnormality of the Gallbladder: A Case Report
Christophoros S. Kosmidis, Georgios D. Koimtzis, Maria S. Kosmidou, Fotini Ieridou, Triantafyllia Koletsa, Katerina T. Zarampouka, Eleni Georgakoudi, Isaac Kesisoglou
DOI: 10.12659/AJCR.905963
Am J Case Rep 2017; 18:1320-1324
2,297 47 0
11 Dec 2017 : Case report
Gallbladder Hypoplasia, a Congenital Abnormality of the Gallbladder: A Case Report
Christophoros S. Kosmidis, Georgios D. Koimtzis, Maria S. Kosmidou, Fotini Ieridou, Triantafyllia Koletsa, Katerina T. Zarampouka, Eleni Georgakoudi, Isaac Kesisoglou
DOI: 10.12659/AJCR.905963
Am J Case Rep 2017; 18:1320-1324
2297 47 0
02 Nov 2017 : Case report
Recurrent Thrombosis: A Case of Hereditary Thromboembolism
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
DOI: 10.12659/AJCR.906035
Am J Case Rep 2017; 18:1157-1159
1,492 41 0
02 Nov 2017 : Case report
Recurrent Thrombosis: A Case of Hereditary Thromboembolism
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
DOI: 10.12659/AJCR.906035
Am J Case Rep 2017; 18:1157-1159
1492 41 0
19 Oct 2017 : Case report
A Rare Association of Congenital Asplenia with Jejunal Arteriovenous Malformation
Jelena Z. Arnautovic, Areej Mazhar, Stela Tereziu, Kashvi Gupta
DOI: 10.12659/AJCR.903741
Am J Case Rep 2017; 18:1118-1122
1,319 31 0
19 Oct 2017 : Case report
A Rare Association of Congenital Asplenia with Jejunal Arteriovenous Malformation
Jelena Z. Arnautovic, Areej Mazhar, Stela Tereziu, Kashvi Gupta
DOI: 10.12659/AJCR.903741
Am J Case Rep 2017; 18:1118-1122
1319 31 0
27 Jun 2017 : Case report 
Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome
Poorna Gopal Azad Sreeramaneni, Subba Rao V. Ambula
DOI: 10.12659/AJCR.902804
Am J Case Rep 2017; 18:719-722
1,503 26 0
27 Jun 2017 : Case report
Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome
Poorna Gopal Azad Sreeramaneni, Subba Rao V. Ambula
DOI: 10.12659/AJCR.902804
Am J Case Rep 2017; 18:719-722
1503 26 0
24 Jun 2017 : Case report 
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI)
Takakazu Kawamura, Tomizou Nishiguchi
DOI: 10.12659/AJCR.903433
Am J Case Rep 2017; 18:707-713
1,417 39 0
24 Jun 2017 : Case report
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI)
Takakazu Kawamura, Tomizou Nishiguchi
DOI: 10.12659/AJCR.903433
Am J Case Rep 2017; 18:707-713
1417 39 0
10 Jun 2017 : Case report
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules
Nives Zimmermann, Jerzy Stanek
DOI: 10.12659/AJCR.903964
Am J Case Rep 2017; 18:649-655
1,173 25 0
10 Jun 2017 : Case report
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules
Nives Zimmermann, Jerzy Stanek
DOI: 10.12659/AJCR.903964
Am J Case Rep 2017; 18:649-655
1173 25 0
09 Jun 2017 : Case report 
Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease
Tajda Keber, Martin Tretjak, Andreja Cokan Vujkovac, Marija Mravljak, Katja Ravber, Bojan Vujkovac
DOI: 10.12659/AJCR.903886
Am J Case Rep 2017; 18:644-648
2,115 28 1
09 Jun 2017 : Case report
Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease
Tajda Keber, Martin Tretjak, Andreja Cokan Vujkovac, Marija Mravljak, Katja Ravber, Bojan Vujkovac
DOI: 10.12659/AJCR.903886
Am J Case Rep 2017; 18:644-648
2115 28 1
07 Jun 2017 : Case report 
Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome
Clara Blat, Elisenda Busquets, Teresa Gili, Assumpta Caixàs, Elisabeth Gabau, Raquel Corripio
DOI: 10.12659/AJCR.903608
Am J Case Rep 2017; 18:637-640
1,651 36 0
07 Jun 2017 : Case report
Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome
Clara Blat, Elisenda Busquets, Teresa Gili, Assumpta Caixàs, Elisabeth Gabau, Raquel Corripio
DOI: 10.12659/AJCR.903608
Am J Case Rep 2017; 18:637-640
1651 36 0
02 Apr 2017 : Case report
Gall Bladder Agenesis: A Rare Embryonic Cause of Recurrent Biliary Colic
Aarthi Rajkumar, Albina Piya
DOI: 10.12659/AJCR.903176
Am J Case Rep 2017; 18:334-338
1,586 29 0
02 Apr 2017 : Case report
Gall Bladder Agenesis: A Rare Embryonic Cause of Recurrent Biliary Colic
Aarthi Rajkumar, Albina Piya
DOI: 10.12659/AJCR.903176
Am J Case Rep 2017; 18:334-338
1586 29 0
09 Mar 2017 : Case report
Magnetic Resonance (MR) Cholangiopancreatography Demonstration of the Cystic Duct Entering the Right Hepatic Duct
Tommaso D'Angelo, Sergio Racchiusa, Silvio Mazziotti, Giuseppe Cicero
DOI: 10.12659/AJCR.902620
Am J Case Rep 2017; 18:242-245
1,503 33 0
09 Mar 2017 : Case report
Magnetic Resonance (MR) Cholangiopancreatography Demonstration of the Cystic Duct Entering the Right Hepatic Duct
Tommaso D'Angelo, Sergio Racchiusa, Silvio Mazziotti, Giuseppe Cicero
DOI: 10.12659/AJCR.902620
Am J Case Rep 2017; 18:242-245
1503 33 0
05 Jan 2017 : Case report 
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Renata Siciliani Scalco, Paulo José Lorenzoni, David S. Lynch, William Alves Martins, Heinz Jungbluth, Ros Quinlivan, Jefferson Becker, Henry Houlden
DOI: 10.12659/AJCR.900970
Am J Case Rep 2017; 18:17-21
2,549 38 2
05 Jan 2017 : Case report
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Renata Siciliani Scalco, Paulo José Lorenzoni, David S. Lynch, William Alves Martins, Heinz Jungbluth, Ros Quinlivan, Jefferson Becker, Henry Houlden
DOI: 10.12659/AJCR.900970
Am J Case Rep 2017; 18:17-21
2549 38 2
14 Oct 2016 : Case report
Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation
Namita Chandra, Sanjay Kumar, Vaibhav Raj, Pawan Kumar Vishwakarma, Sheela Sinha, Ram Prakash Saha
DOI: 10.12659/AJCR.898165
Am J Case Rep 2016; 17:745-748
1,523 31 1
14 Oct 2016 : Case report
Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation
Namita Chandra, Sanjay Kumar, Vaibhav Raj, Pawan Kumar Vishwakarma, Sheela Sinha, Ram Prakash Saha
DOI: 10.12659/AJCR.898165
Am J Case Rep 2016; 17:745-748
1523 31 1
07 Oct 2016 : Case report 
Diagnosis and Treatment of Small Bowel Strangulation Due To Congenital Band: Three Cases of Congenital Band in Adults Lacking a History of Trauma or Surgery
Gregory Nicolas, Tony Kfoury, Rasha Shimlati, Elliott Koury, Maroon Tohmeh, Elie Gharios, Raja Wakim
DOI: 10.12659/AJCR.899664
Am J Case Rep 2016; 17:712-719
3,464 91 0
07 Oct 2016 : Case report
Diagnosis and Treatment of Small Bowel Strangulation Due To Congenital Band: Three Cases of Congenital Band in Adults Lacking a History of Trauma or Surgery
Gregory Nicolas, Tony Kfoury, Rasha Shimlati, Elliott Koury, Maroon Tohmeh, Elie Gharios, Raja Wakim
DOI: 10.12659/AJCR.899664
Am J Case Rep 2016; 17:712-719
3464 91 0
25 Jul 2016 : Case report 
Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome
Yong Tae Park, Chan-Ho Park, Mi Ae Bae, Hwa Sik Jung, Youn Im Lee, Ji-Hun Lim, Hee Jeong Cha, Min Jung Seo, Seol Hoon Park, Yunsuk Choi, Hawk Kim, Jae-Cheol Jo
DOI: 10.12659/AJCR.897572
Am J Case Rep 2016; 17:529-534
1,353 22 1
25 Jul 2016 : Case report
Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome
Yong Tae Park, Chan-Ho Park, Mi Ae Bae, Hwa Sik Jung, Youn Im Lee, Ji-Hun Lim, Hee Jeong Cha, Min Jung Seo, Seol Hoon Park, Yunsuk Choi, Hawk Kim, Jae-Cheol Jo
DOI: 10.12659/AJCR.897572
Am J Case Rep 2016; 17:529-534
1353 22 1
16 May 2016 : Case report
Challenging Case of Postmenopausal Bleeding and Complete Urogenital Duplication
Olga Grechukhina, Diana P. English, Devin Miller, Elena Ratner
DOI: 10.12659/AJCR.897080
Am J Case Rep 2016; 17:331-336
1,195 22 1
16 May 2016 : Case report
Challenging Case of Postmenopausal Bleeding and Complete Urogenital Duplication
Olga Grechukhina, Diana P. English, Devin Miller, Elena Ratner
DOI: 10.12659/AJCR.897080
Am J Case Rep 2016; 17:331-336
1195 22 1
15 Apr 2016 : Case report
A Case of Beare-Stevenson Syndrome with Unusual Manifestations
Nitin Ron, Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie David
DOI: 10.12659/AJCR.897177
Am J Case Rep 2016; 17:254-258
1,401 37 2
15 Apr 2016 : Case report
A Case of Beare-Stevenson Syndrome with Unusual Manifestations
Nitin Ron, Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie David
DOI: 10.12659/AJCR.897177
Am J Case Rep 2016; 17:254-258
1401 37 2
17 Feb 2016 : Case report
Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction
Thein Tun Aung, Edward Samuel Roberto, Abdul Wase
DOI: 10.12659/AJCR.896474
Am J Case Rep 2016; 17:93-96
1,297 35 1
17 Feb 2016 : Case report
Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction
Thein Tun Aung, Edward Samuel Roberto, Abdul Wase
DOI: 10.12659/AJCR.896474
Am J Case Rep 2016; 17:93-96
1297 35 1
16 Dec 2015 : Case report
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency
Elena Oldani, Catherine Garel, Martine Bucourt, Lionel Carbillon
DOI: 10.12659/AJCR.895526
Am J Case Rep 2015; 16:882-885
1,373 38 3
16 Dec 2015 : Case report
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency
Elena Oldani, Catherine Garel, Martine Bucourt, Lionel Carbillon
DOI: 10.12659/AJCR.895526
Am J Case Rep 2015; 16:882-885
1373 38 3
27 Oct 2015 : Case report 
Neuroregenerative Effect of Oxandrolone: A Case Report
Vittorio Bianchi, Adriana Marbini
DOI: 10.12659/AJCR.893901
Am J Case Rep 2015; 16:763-767
3,220 69 0
27 Oct 2015 : Case report
Neuroregenerative Effect of Oxandrolone: A Case Report
Vittorio Bianchi, Adriana Marbini
DOI: 10.12659/AJCR.893901
Am J Case Rep 2015; 16:763-767
3220 69 0
29 Sep 2015 : Case report 
Life-Threatening Contraceptive-Related Pulmonary Embolism in a 14-Year-Old Girl with Hereditary Thrombophilia
Maja Hellfritzsch, Erik Lerkevang Grove
DOI: 10.12659/AJCR.894721
Am J Case Rep 2015; 16:667-669
1,471 36 2
29 Sep 2015 : Case report
Life-Threatening Contraceptive-Related Pulmonary Embolism in a 14-Year-Old Girl with Hereditary Thrombophilia
Maja Hellfritzsch, Erik Lerkevang Grove
DOI: 10.12659/AJCR.894721
Am J Case Rep 2015; 16:667-669
1471 36 2
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Am J Case Rep In Press; DOI: 10.12659/AJCR.945083
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Am J Case Rep In Press; DOI: 10.12659/AJCR.943936
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Am J Case Rep In Press; DOI: 10.12659/AJCR.944693
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Am J Case Rep In Press; DOI: 10.12659/AJCR.944273
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