Congenital defects / diseases

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
690 1 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
690 1 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
891 4 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
891 4 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
1345 15 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
1345 15 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
937 14 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
937 14 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
814 8 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
814 8 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
952 7 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
952 7 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
868 13 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
868 13 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
710 7 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
710 7 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
1624 8 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
1624 8 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
1077 14 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
1077 14 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
1045 8 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
1045 8 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
1015 14 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
1015 14 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
1978 7 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
1978 7 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
927 13 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
927 13 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
2276 42 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
2276 42 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
858 4 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
858 4 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
695 2 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
695 2 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
798 15 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
798 15 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
735 2 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
735 2 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
817 10 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
817 10 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
2069 32 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
2069 32 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
901 9 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
901 9 2

18 Sep 2015 : Case report
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report
Marta Navratil, Vlasta Đuranović, Boro Nogalo, Alen Švigir, Iva Dumbović Dubravčić, Mirjana Turkalj
DOI: 10.12659/AJCR.893995
Am J Case Rep 2015; 16:631-636
1239 19 1

18 Sep 2015 : Case report
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report
Marta Navratil, Vlasta Đuranović, Boro Nogalo, Alen Švigir, Iva Dumbović Dubravčić, Mirjana Turkalj
DOI: 10.12659/AJCR.893995
Am J Case Rep 2015; 16:631-636
1239 19 1

11 Aug 2015 : Case report
A Rare Association of Sinus Venosus-Type Atrial Septal Defect and Persistent Left Superior Vena Cava Detected by Transthoracic Echocardiography and Cardiac Magnetic Resonance Imaging
Tarek M. Mousa, Oluwaseun A. Akinseye, Todd C. Kerwin, Olakunle O. Akinboboye
DOI: 10.12659/AJCR.894394
Am J Case Rep 2015; 16:528-531
888 7 0

11 Aug 2015 : Case report
A Rare Association of Sinus Venosus-Type Atrial Septal Defect and Persistent Left Superior Vena Cava Detected by Transthoracic Echocardiography and Cardiac Magnetic Resonance Imaging
Tarek M. Mousa, Oluwaseun A. Akinseye, Todd C. Kerwin, Olakunle O. Akinboboye
DOI: 10.12659/AJCR.894394
Am J Case Rep 2015; 16:528-531
888 7 0

04 Aug 2015 : Case report
Congenital Absence of Left Atrial Appendage in a Patient with Intracranial Hemorrhage
Giuseppe Di Gioia, Simona Mega, Silvia Visconti, Cosimo Marco Campanale, Antonio Creta, Laura Ragni, Germano Di Sciascio
DOI: 10.12659/AJCR.894331
Am J Case Rep 2015; 16:514-516
843 7 0

04 Aug 2015 : Case report
Congenital Absence of Left Atrial Appendage in a Patient with Intracranial Hemorrhage
Giuseppe Di Gioia, Simona Mega, Silvia Visconti, Cosimo Marco Campanale, Antonio Creta, Laura Ragni, Germano Di Sciascio
DOI: 10.12659/AJCR.894331
Am J Case Rep 2015; 16:514-516
843 7 0
In Press
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941337
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941422
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941599
21 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941877
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