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Congenital defects / diseases

#906832

01 Jan 2018 : Case report  France

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

#906832

01 Jan 2018 : Case report  France

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

#906283

15 Dec 2017 : Case report  USA

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

#906283

15 Dec 2017 : Case report  USA

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

#905963

11 Dec 2017 : Case report  Greece

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

#905963

11 Dec 2017 : Case report  Greece

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

#906035

02 Nov 2017 : Case report  Italy

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

#906035

02 Nov 2017 : Case report  Italy

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

#903741

19 Oct 2017 : Case report  USA

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

#903741

19 Oct 2017 : Case report  USA

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

#902804

27 Jun 2017 : Case report  India

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

#902804

27 Jun 2017 : Case report  India

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

#903433

24 Jun 2017 : Case report  Japan

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

#903433

24 Jun 2017 : Case report  Japan

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

#903964

10 Jun 2017 : Case report  USA

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

#903964

10 Jun 2017 : Case report  USA

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

#903886

09 Jun 2017 : Case report  Slovenia

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

#903886

09 Jun 2017 : Case report  Slovenia

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

#903608

07 Jun 2017 : Case report  Spain

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

#903608

07 Jun 2017 : Case report  Spain

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

#903176

02 Apr 2017 : Case report  USA

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

#903176

02 Apr 2017 : Case report  USA

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

#902620

09 Mar 2017 : Case report  Italy

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

#902620

09 Mar 2017 : Case report  Italy

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

#900970

05 Jan 2017 : Case report  United Kingdom

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

#900970

05 Jan 2017 : Case report  United Kingdom

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

#898165

14 Oct 2016 : Case report  India

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

#898165

14 Oct 2016 : Case report  India

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

#899664

07 Oct 2016 : Case report  Lebanon

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

#899664

07 Oct 2016 : Case report  Lebanon

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

#897572

25 Jul 2016 : Case report  South Korea

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

#897572

25 Jul 2016 : Case report  South Korea

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

#897080

16 May 2016 : Case report  USA

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

#897080

16 May 2016 : Case report  USA

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

#897177

15 Apr 2016 : Case report  USA

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

#897177

15 Apr 2016 : Case report  USA

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

#896474

17 Feb 2016 : Case report  USA

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

#896474

17 Feb 2016 : Case report  USA

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

#895526

16 Dec 2015 : Case report  France

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

#895526

16 Dec 2015 : Case report  France

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

#893901

27 Oct 2015 : Case report  San Marino

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

#893901

27 Oct 2015 : Case report  San Marino

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

#894721

29 Sep 2015 : Case report  Denmark

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

#894721

29 Sep 2015 : Case report  Denmark

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

#893995

18 Sep 2015 : Case report  Croatia

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

#893995

18 Sep 2015 : Case report  Croatia

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

#894394

11 Aug 2015 : Case report  USA

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

#894394

11 Aug 2015 : Case report  USA

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

#894331

04 Aug 2015 : Case report  Italy

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

#894331

04 Aug 2015 : Case report  Italy

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

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923