Congenital defects / diseases
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
2,122 1,266 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
2122 1266 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
3,402 1,217 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
3402 1217 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
3,043 1,694 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
3043 1694 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
2,900 1,397 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
2900 1397 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
2,563 1,083 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
2563 1083 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
3,950 2,102 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
3950 2102 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
2,767 1,153 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
2767 1153 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
5,284 4,081 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
5284 4081 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
2,719 1,412 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
2719 1412 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
2,389 1,321 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
2389 1321 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
2,806 2,082 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
2806 2082 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
2,485 1,281 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
2485 1281 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
2,536 1,318 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
2536 1318 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
5,614 1,601 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
5614 1601 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
2,564 1,689 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
2564 1689 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
3,220 1,636 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
3220 1636 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
2,833 1,946 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
2833 1946 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
2,650 1,146 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
2650 1146 0
06 Mar 2015 : Case report 
Sinus Node Dysfunction Requiring Permanent Pacemaker Implantation in a Young Adult with Klinefelter Syndrome
Ahmet Karagöz, Oğuz Dikbaş, Erhan Teker, Aslı Vural, Zeki Yüksel Günaydın, Osman Bektaş
DOI: 10.12659/AJCR.893065
Am J Case Rep 2015; 16:136-139
3,053 1,545 4
06 Mar 2015 : Case report
Sinus Node Dysfunction Requiring Permanent Pacemaker Implantation in a Young Adult with Klinefelter Syndrome
Ahmet Karagöz, Oğuz Dikbaş, Erhan Teker, Aslı Vural, Zeki Yüksel Günaydın, Osman Bektaş
DOI: 10.12659/AJCR.893065
Am J Case Rep 2015; 16:136-139
3053 1545 4
08 Feb 2015 : Case report
Unilateral Agenesis of the Lung: A Rare Entity
Urvinderpal Singh, Daksh Jhim, Sunil Kumar, Vidhu Mittal, Navdeep Singh, Hitesh Gour, Muralidharan Ramaraj
DOI: 10.12659/AJCR.892385
Am J Case Rep 2015; 16:69-72
2,127 1,003 0
08 Feb 2015 : Case report
Unilateral Agenesis of the Lung: A Rare Entity
Urvinderpal Singh, Daksh Jhim, Sunil Kumar, Vidhu Mittal, Navdeep Singh, Hitesh Gour, Muralidharan Ramaraj
DOI: 10.12659/AJCR.892385
Am J Case Rep 2015; 16:69-72
2127 1003 0
27 Jan 2015 : Case report 
Congenital Incomplete Fusion of Superior Mesenteric Artery Mimicking Dissection
Vasu Keshav Sharma, Martin Weng Chin H'ng
DOI: 10.12659/AJCR.892527
Am J Case Rep 2015; 16:41-44
1,895 993 2
27 Jan 2015 : Case report
Congenital Incomplete Fusion of Superior Mesenteric Artery Mimicking Dissection
Vasu Keshav Sharma, Martin Weng Chin H'ng
DOI: 10.12659/AJCR.892527
Am J Case Rep 2015; 16:41-44
1895 993 2
31 Dec 2014 : Case report 
Adult-Onset Acral Peeling Skin Syndrome in a Non-Identical Twin: A Case Report in South Africa
Reshmi Mathew, Olufemi B. Omole, Jonathan Rigby, Wayne Grayson
DOI: 10.12659/AJCR.892110
Am J Case Rep 2014; 15:589-592
3,018 3,091 0
31 Dec 2014 : Case report
Adult-Onset Acral Peeling Skin Syndrome in a Non-Identical Twin: A Case Report in South Africa
Reshmi Mathew, Olufemi B. Omole, Jonathan Rigby, Wayne Grayson
DOI: 10.12659/AJCR.892110
Am J Case Rep 2014; 15:589-592
3018 3091 0
24 Dec 2014 : Case report
Hyperphosphatemic Familial Tumoral Calcinosis: Odontostomatologic Management and Pathological Features
Gianfranco Favia, Maria Grazia Lacaita, Luisa Limongelli, Angela Tempesta, Nicola Laforgia, Angela Pia Cazzolla, Eugenio Maiorano
DOI: 10.12659/AJCR.892113
Am J Case Rep 2014; 15:569-575
2,510 1,357 1
24 Dec 2014 : Case report
Hyperphosphatemic Familial Tumoral Calcinosis: Odontostomatologic Management and Pathological Features
Gianfranco Favia, Maria Grazia Lacaita, Luisa Limongelli, Angela Tempesta, Nicola Laforgia, Angela Pia Cazzolla, Eugenio Maiorano
DOI: 10.12659/AJCR.892113
Am J Case Rep 2014; 15:569-575
2510 1357 1
09 Oct 2014 : Case report 
Annular Pancreas: A Cause of Gastric Outlet Obstruction in a 20-Year-Old Patient
Raha Alahmadi, Saud Almuhammadi
DOI: 10.12659/AJCR.891041
Am J Case Rep 2014; 15:437-440
2,594 1,071 7
09 Oct 2014 : Case report
Annular Pancreas: A Cause of Gastric Outlet Obstruction in a 20-Year-Old Patient
Raha Alahmadi, Saud Almuhammadi
DOI: 10.12659/AJCR.891041
Am J Case Rep 2014; 15:437-440
2594 1071 7
20 Sep 2014 : Case report
Horizontal Liver Cleft: A Rare Anatomic Variant
Yong Han Ting, Kian Soon Lim
DOI: 10.12659/AJCR.892274
Am J Case Rep 2014; 15:401-403
2,830 1,103 1
20 Sep 2014 : Case report
Horizontal Liver Cleft: A Rare Anatomic Variant
Yong Han Ting, Kian Soon Lim
DOI: 10.12659/AJCR.892274
Am J Case Rep 2014; 15:401-403
2830 1103 1
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954113
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Am J Case Rep In Press; DOI: 10.12659/AJCR.954391
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