Congenital defects / diseases

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

2,970 1,571 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

3,410 1,515 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

2,318 910 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

3,458 1,538 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

4,521 1,878 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

1,976 796 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

3,078 851 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

2,017 848 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

2,820 1,235 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

1,803 620 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

2,939 1,017 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

1,829 793 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

2,074 864 1

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

2,736 941 0

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

1,986 766 1

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

2,917 1,518 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

4,011 883 3

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

1,859 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

2,960 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

2,279 33 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

1,860 36 1

29 Nov 2010 : Case report  

Recklinghausen disease

Beata Bergler-Czop, Ligia Brzezińska-Wcisło, Dorota Trzmiel

Am J Case Rep 2010; 11:214-217

1,861 28 0

14 Jul 2010 : Case report  

Severe anterior urethral stricture after proximal hypospadias repair – treatment and review of literature

Mohammad Kazem Moslemi, Mohammad Hasan Dehqhani Firoozabadi

Am J Case Rep 2010; 11:142-144

2,074 28 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

1,934 57 0

10 May 2010 :   

Neurofibromatosis-1

Anna Strzalka, Marta Kuczma, Bozena Romanowska-Dixon

Am J Case Rep 2010; 11:93-96

2,033 27 0