Congenital defects / diseases

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

2,800 488 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

1,685 434 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

2,512 639 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

1,631 351 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

2,613 494 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

1,568 411 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

1,675 412 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

2,440 509 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

1,707 415 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

2,365 862 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

3,666 488 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

1,578 25 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

2,584 21 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

1,954 32 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

1,561 34 1

29 Nov 2010 : Case report  

Recklinghausen disease

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

Am J Case Rep 2010; 11:214-217

1,486 26 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

1,696 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

1,649 55 0

10 May 2010 :   

Neurofibromatosis-1

Anna Strzalka, Marta Kuczma, Bozena Romanowska-Dixon

Am J Case Rep 2010; 11:93-96

1,763 27 0

26 May 2010 :   

Acute myocardial infarction in a patient with situs inversus totalis

Damian Kawecki, Wojciech Wojakowski, Rafał Wyderka, Andrzej Rudnik, Marek Kondys, Ewa Nowalany-Kozielska, Paweł Buszman

Am J Case Rep 2010; 11:113-115

1,621 54 0

11 Mar 2011 :   

Intra-abdominal solid visceral birth injury to neonates following normal spontaneous vaginal delivery

Osarumwense David Osifo, Pre-fubara Preye Numbere, Efe Mike Ovueni

DOI: 10.12659/AJCR.881459

Am J Case Rep 2011; 12:19-22

2,934 68 0

12 Mar 2010 :   

Delayed diagnosis of Prader-Willi syndrome in a 24 year-old patient

Ioannis A. Kyriazis, Dimitrios Mendrinos, Maria Saridi, Maria Rekliti, Aikaterini Toska, Greta Wozniak, Zoe Roupa

Am J Case Rep 2010; 11:50-53

2,237 58 0

29 Aug 2008 :   

Demirhan sydrome, a new sydrome: Fibular agenesis, cleft palate, absence of multiple permanent teeth and labial hypoplasia

Osman Demirhan, Neslihan Önenli Mungan, Serdar Toroğlu, Figen Binokay, Deniz Taştemir, Hüseyin A. Solğun

Am J Case Rep 2008; 9:359-363

2,247 44 0

24 Apr 2008 :   

Multiple ocular and other congenital anomalies in a HIV positive child

Afekhide Ernest Omoti, Caroline Edijana Omoti, Joseph Momodu Waziri-Erameh

Am J Case Rep 2008; 9:229-232

1,248 27 0