Congenital defects / diseases

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
2,319 1,249 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
2319 1249 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
4,478 1,582 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
4478 1582 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
2,824 1,178 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
2824 1178 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
3,140 1,896 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
3140 1896 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
3,559 1,834 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
3559 1834 4

02 May 2014 : Case report
Gallbladder agenesis with a primary choledochal stone in a patient with situs inversus totalis
Hassan A. Alzahrani, Nizar M. Yamani
DOI: 10.12659/AJCR.890523
Am J Case Rep 2014; 15:185-188
2,452 1,141 4

02 May 2014 : Case report
Gallbladder agenesis with a primary choledochal stone in a patient with situs inversus totalis
Hassan A. Alzahrani, Nizar M. Yamani
DOI: 10.12659/AJCR.890523
Am J Case Rep 2014; 15:185-188
2452 1141 4

28 Mar 2014 : Case report
Autologous bone marrow mononuclear cell transplantation in Duchenne muscular dystrophy
Alok Sharma, Hemangi Sane, Amruta Paranjape, Khushboo Bhagwanani, Nandini Gokulchandran, Prerna Badhe
DOI: 10.12659/AJCR.890078
Am J Case Rep 2014; 15:128-134
3,670 1,846 12

28 Mar 2014 : Case report
Autologous bone marrow mononuclear cell transplantation in Duchenne muscular dystrophy
Alok Sharma, Hemangi Sane, Amruta Paranjape, Khushboo Bhagwanani, Nandini Gokulchandran, Prerna Badhe
DOI: 10.12659/AJCR.890078
Am J Case Rep 2014; 15:128-134
3670 1846 12

18 Mar 2014 : Case report
Congenital arhinia: A rare case
Mao-mao Zhang, Yang-hong Hu, Wei He, Kui-kui Hu
DOI: 10.12659/AJCR.890072
Am J Case Rep 2014; 15:115-118
4,760 2,313 2

18 Mar 2014 : Case report
Congenital arhinia: A rare case
Mao-mao Zhang, Yang-hong Hu, Wei He, Kui-kui Hu
DOI: 10.12659/AJCR.890072
Am J Case Rep 2014; 15:115-118
4760 2313 2

07 Mar 2014 : Case report
Multifocal tumoral calcinosis in a 4-year-old girl
Ilyas Sayar, Kemal Peker, Alparslan Kapısız, Isıl Esen Bostancı, Mehmet Gürbüzel, Arda Isik, Necla Aydın Peker
DOI: 10.12659/AJCR.890166
Am J Case Rep 2014; 15:103-106
2,098 982 0

07 Mar 2014 : Case report
Multifocal tumoral calcinosis in a 4-year-old girl
Ilyas Sayar, Kemal Peker, Alparslan Kapısız, Isıl Esen Bostancı, Mehmet Gürbüzel, Arda Isik, Necla Aydın Peker
DOI: 10.12659/AJCR.890166
Am J Case Rep 2014; 15:103-106
2098 982 0

23 Jan 2014 : Case report
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)
Antoni Pruszewicz, Bożena Wiskirska - Woźnica, Waldemar Wojnowski, Hanna Czerniejewska, Joanna Jackowska, Małgorzata Jarmuż, Krzysztof Szyfter, Małgorzata Leszczyńska
DOI: 10.12659/AJCR.884033
Am J Case Rep 2014; 15:41-44
3,195 1,021 2

23 Jan 2014 : Case report
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)
Antoni Pruszewicz, Bożena Wiskirska - Woźnica, Waldemar Wojnowski, Hanna Czerniejewska, Joanna Jackowska, Małgorzata Jarmuż, Krzysztof Szyfter, Małgorzata Leszczyńska
DOI: 10.12659/AJCR.884033
Am J Case Rep 2014; 15:41-44
3195 1021 2

17 Jan 2014 : Case report
Total hip replacement for an ochronotic patient: A technical trick
Oguz Cebesoy, Mustafa Isik, Mehmet Subasi, Abbas Kaya, Fethi Bilgin, Oğuz Kaya
DOI: 10.12659/AJCR.890008
Am J Case Rep 2014; 15:27-30
2,175 1,047 1

17 Jan 2014 : Case report
Total hip replacement for an ochronotic patient: A technical trick
Oguz Cebesoy, Mustafa Isik, Mehmet Subasi, Abbas Kaya, Fethi Bilgin, Oğuz Kaya
DOI: 10.12659/AJCR.890008
Am J Case Rep 2014; 15:27-30
2175 1047 1

13 Dec 2013 : Case report
Biventricular non-compaction with predominant right ventricular involvement, reduced left ventricular systolic and diastolic function, and pulmonary hypertension in a Hispanic male
Sarmad Said, Chad J. Cooper, Karla Quevedo, Emmanuel Rodriguez, German T. Hernandez
DOI: 10.12659/AJCR.889676
Am J Case Rep 2013; 14:539-542
2,961 1,545 6

13 Dec 2013 : Case report
Biventricular non-compaction with predominant right ventricular involvement, reduced left ventricular systolic and diastolic function, and pulmonary hypertension in a Hispanic male
Sarmad Said, Chad J. Cooper, Karla Quevedo, Emmanuel Rodriguez, German T. Hernandez
DOI: 10.12659/AJCR.889676
Am J Case Rep 2013; 14:539-542
2961 1545 6

02 Oct 2013 : Case report
Double superior vena cava on fistulogram: A case report and discussion
Chad J. Cooper, Anwar Soliman Gerges, Emmanuel Anekwe, German T. Hernandez
DOI: 10.12659/AJCR.889589
Am J Case Rep 2013; 14:395-397
1,928 811 3

02 Oct 2013 : Case report
Double superior vena cava on fistulogram: A case report and discussion
Chad J. Cooper, Anwar Soliman Gerges, Emmanuel Anekwe, German T. Hernandez
DOI: 10.12659/AJCR.889589
Am J Case Rep 2013; 14:395-397
1928 811 3

16 Sep 2013 : Case report
Bland-White-Garland syndrome – a rare and serious cause of failure to thrive
Agnieszka Szmigielska, Maria Roszkowska-Blaim, Małgorzata Gołąbek-Dylewska, Agnieszka Tomik, Michał Brzewski, Bożena Werner
DOI: 10.12659/AJCR.889112
Am J Case Rep 2013; 14:370-372
3,131 1,289 4

16 Sep 2013 : Case report
Bland-White-Garland syndrome – a rare and serious cause of failure to thrive
Agnieszka Szmigielska, Maria Roszkowska-Blaim, Małgorzata Gołąbek-Dylewska, Agnieszka Tomik, Michał Brzewski, Bożena Werner
DOI: 10.12659/AJCR.889112
Am J Case Rep 2013; 14:370-372
3131 1289 4

05 Sep 2012 : Case report
Infantile hypotonia with failure to thrive
Mohamed Nagiub, Karen Alton, Premchand Anne
DOI: 10.12659/AJCR.883367
Am J Case Rep 2012; 13:214-217
1,987 1,003 0

05 Sep 2012 : Case report
Infantile hypotonia with failure to thrive
Mohamed Nagiub, Karen Alton, Premchand Anne
DOI: 10.12659/AJCR.883367
Am J Case Rep 2012; 13:214-217
1987 1003 0

14 Sep 2012 : Case report
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea
Hale Sakallı, Hakan Bucak
DOI: 10.12659/AJCR.883446
Am J Case Rep 2012; 13:230-233
2,876 1,186 0

14 Sep 2012 : Case report
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea
Hale Sakallı, Hakan Bucak
DOI: 10.12659/AJCR.883446
Am J Case Rep 2012; 13:230-233
2876 1186 0

09 Jul 2012 : Case report
Major liver resection by a hanging maneuver for an infant with hepatoblastoma
Megumi Kobayashi, Masaru Mizuno, Yasushi Hasegawa, Hiroyuki Nitta, Go Wakabayashi
DOI: 10.12659/AJCR.883241
Am J Case Rep 2012; 13:140-142
2,215 1,073 1

09 Jul 2012 : Case report
Major liver resection by a hanging maneuver for an infant with hepatoblastoma
Megumi Kobayashi, Masaru Mizuno, Yasushi Hasegawa, Hiroyuki Nitta, Go Wakabayashi
DOI: 10.12659/AJCR.883241
Am J Case Rep 2012; 13:140-142
2215 1073 1

13 Jun 2012 : Case report
The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography
Ismail Temur, Kahraman Ulker, Islim Volkan, Mehmet Karaca, Mustafa Ersoz, Abdulaziz Gul, Esat Adiguzel
DOI: 10.12659/AJCR.883025
Am J Case Rep 2012; 13:106-108
4,218 1,171 3

13 Jun 2012 : Case report
The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography
Ismail Temur, Kahraman Ulker, Islim Volkan, Mehmet Karaca, Mustafa Ersoz, Abdulaziz Gul, Esat Adiguzel
DOI: 10.12659/AJCR.883025
Am J Case Rep 2012; 13:106-108
4218 1171 3

10 Jul 2012 : Case report
Permanent neonatal diabetes mellitus
Abdulrahman Al-Matary, Mushtaq Hussain, Ahmed Nahari, Jaffar Ali
DOI: 10.12659/AJCR.883242
Am J Case Rep 2012; 13:143-145
3,086 1,775 3

10 Jul 2012 : Case report
Permanent neonatal diabetes mellitus
Abdulrahman Al-Matary, Mushtaq Hussain, Ahmed Nahari, Jaffar Ali
DOI: 10.12659/AJCR.883242
Am J Case Rep 2012; 13:143-145
3086 1775 3

13 Jun 2012 : Case report
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD
Mehmet Turgut, Osman Demirhan, Erdal Tunç, Ibrahim Hakan Bucak, Perihan Yasemen Canoz, Fatih Temiz, Gokhan Tumgor
DOI: 10.12659/AJCR.883026
Am J Case Rep 2012; 13:109-113
2,125 960 1

13 Jun 2012 : Case report
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD
Mehmet Turgut, Osman Demirhan, Erdal Tunç, Ibrahim Hakan Bucak, Perihan Yasemen Canoz, Fatih Temiz, Gokhan Tumgor
DOI: 10.12659/AJCR.883026
Am J Case Rep 2012; 13:109-113
2125 960 1

29 Dec 2011 : Case report
Scleritis in association with Wiskott-Aldrich syndrome
Vasileios Karampatakis, Kordali Panagiota, Diamantis Almaliotis, Maria Hatzistilianou
DOI: 10.12659/AJCR.882211
Am J Case Rep 2011; 12:210-212
2,037 26 1

29 Dec 2011 : Case report
Scleritis in association with Wiskott-Aldrich syndrome
Vasileios Karampatakis, Kordali Panagiota, Diamantis Almaliotis, Maria Hatzistilianou
DOI: 10.12659/AJCR.882211
Am J Case Rep 2011; 12:210-212
2037 26 1

06 Dec 2011 : Case report
SED-brachydactyly and distinctive speech: Report of a new familial cas
Camila Ive Ferreira Oliveira, Guaracy Carvalho Filho, Antonio Soares Souza, Agnes Cristina Fett-Conte
DOI: 10.12659/AJCR.882136
Am J Case Rep 2011; 12:189-194
3,193 22 0

06 Dec 2011 : Case report
SED-brachydactyly and distinctive speech: Report of a new familial cas
Camila Ive Ferreira Oliveira, Guaracy Carvalho Filho, Antonio Soares Souza, Agnes Cristina Fett-Conte
DOI: 10.12659/AJCR.882136
Am J Case Rep 2011; 12:189-194
3193 22 0

18 Oct 2011 : Case report
Brugada syndrome revealed by propafenone administration
Murat Turfan, Ethem Celik, Ender Ornek, Sani Namık Murat, Mustafa Duran, Muhammed Bora DemirCelik
DOI: 10.12659/AJCR.882016
Am J Case Rep 2011; 12:122-124
2,457 35 0

18 Oct 2011 : Case report
Brugada syndrome revealed by propafenone administration
Murat Turfan, Ethem Celik, Ender Ornek, Sani Namık Murat, Mustafa Duran, Muhammed Bora DemirCelik
DOI: 10.12659/AJCR.882016
Am J Case Rep 2011; 12:122-124
2457 35 0

17 Mar 2011 : Case report
Melanotic Neuroectodermal Tumor in an Infant: Case Report
Serahim Serhat Atilgan, Behcet Erol, Ferhan Yaman, Utku Nezih Yilmaz, Cevat Can
DOI: 10.12659/AJCR.881487
Am J Case Rep 2011; 12:27-30
2,046 37 1

17 Mar 2011 : Case report
Melanotic Neuroectodermal Tumor in an Infant: Case Report
Serahim Serhat Atilgan, Behcet Erol, Ferhan Yaman, Utku Nezih Yilmaz, Cevat Can
DOI: 10.12659/AJCR.881487
Am J Case Rep 2011; 12:27-30
2046 37 1

27 Jan 2011 : Case report
Congenital absence of the appendix: A differential diagnosis in Right iliac fossa pain
Edward K. Yeboah, Luke L. Anthony
DOI: 10.12659/AJCR.881374
Am J Case Rep 2011; 12:12-13
2,141 57 0

27 Jan 2011 : Case report
Congenital absence of the appendix: A differential diagnosis in Right iliac fossa pain
Edward K. Yeboah, Luke L. Anthony
DOI: 10.12659/AJCR.881374
Am J Case Rep 2011; 12:12-13
2141 57 0
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