Congenital defects / diseases
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
3,711 1,459 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
3711 1459 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
2,524 809 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
2524 809 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
5,027 2,763 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
5027 2763 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
2,486 1,042 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
2486 1042 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
2,176 1,002 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
2176 1002 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
2,557 1,274 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
2557 1274 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
2,300 881 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
2300 881 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
2,354 968 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
2354 968 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
5,298 1,111 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
5298 1111 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
2,347 1,185 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
2347 1185 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
2,911 1,126 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
2911 1126 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
2,631 1,476 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
2631 1476 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
2,443 849 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
2443 849 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
2,840 1,127 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
2840 1127 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
1,956 677 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
1956 677 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
1,697 693 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
1697 693 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
2,733 1,949 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
2733 1949 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
2,287 873 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
2287 873 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
2,401 755 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
2401 755 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
2,541 793 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
2541 793 1
04 Aug 2014 : Case report
Medical Treatment of an Adult with Uncorrected Isolated Interrupted Aorta Resulted in no Complications after 4 Years of Follow-Up
Ali Öztürk, Emin Evren Özcan, Erdem Özel, Samet Uyar, Ömer Şenaslan
DOI: 10.12659/AJCR.890716
Am J Case Rep 2014; 15:330-332
2,105 932 2
04 Aug 2014 : Case report
Medical Treatment of an Adult with Uncorrected Isolated Interrupted Aorta Resulted in no Complications after 4 Years of Follow-Up
Ali Öztürk, Emin Evren Özcan, Erdem Özel, Samet Uyar, Ömer Şenaslan
DOI: 10.12659/AJCR.890716
Am J Case Rep 2014; 15:330-332
2105 932 2
05 Jul 2014 : Case report
Recurrent Epistaxis Caused by an Intranasal Supernumerary Tooth in a Young Adult
Hamed O. Al Dhafeeri, Abdulmajid Kavarodi, Khalil Al Shaikh, Ahmed Bukhari, Omair Al Hussain, Ahmed El Baramawy
DOI: 10.12659/AJCR.890710
Am J Case Rep 2014; 15:291-293
4,109 1,133 8
05 Jul 2014 : Case report
Recurrent Epistaxis Caused by an Intranasal Supernumerary Tooth in a Young Adult
Hamed O. Al Dhafeeri, Abdulmajid Kavarodi, Khalil Al Shaikh, Ahmed Bukhari, Omair Al Hussain, Ahmed El Baramawy
DOI: 10.12659/AJCR.890710
Am J Case Rep 2014; 15:291-293
4109 1133 8
26 Jun 2014 : Case report
The role of the new Valeo stent for treating pulmonary artery stenoses in children with complex cardiac malformations
Nikhil Sharma, Sebastian Goreczny
DOI: 10.12659/AJCR.890455
Am J Case Rep 2014; 15:275-279
2,600 896 2
26 Jun 2014 : Case report
The role of the new Valeo stent for treating pulmonary artery stenoses in children with complex cardiac malformations
Nikhil Sharma, Sebastian Goreczny
DOI: 10.12659/AJCR.890455
Am J Case Rep 2014; 15:275-279
2600 896 2
10 Jun 2014 : Case report
Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant
Hyun Gee Ryoo, Seung-Ki Kim, Jung-Eun Cheon, Ji Yeoun Lee, Kyu-Chang Wang, Ji Hoon Phi
DOI: 10.12659/AJCR.890590
Am J Case Rep 2014; 15:246-253
2,878 1,391 3
10 Jun 2014 : Case report
Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant
Hyun Gee Ryoo, Seung-Ki Kim, Jung-Eun Cheon, Ji Yeoun Lee, Kyu-Chang Wang, Ji Hoon Phi
DOI: 10.12659/AJCR.890590
Am J Case Rep 2014; 15:246-253
2878 1391 3
07 May 2014 : Case report
Pallister-Killian syndrome
Aarthi Srinivasan, Debra Wright
DOI: 10.12659/AJCR.890614
Am J Case Rep 2014; 15:194-198
3,314 1,311 4
07 May 2014 : Case report
Pallister-Killian syndrome
Aarthi Srinivasan, Debra Wright
DOI: 10.12659/AJCR.890614
Am J Case Rep 2014; 15:194-198
3314 1311 4
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952931
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952577
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