Congenital defects / diseases

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

254 2 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

149 2 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

153 1 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

272 6 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

169 4 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

187 2 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

267 3 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

156 1 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

360 4 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

215 2 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

267 6 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

247 6 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

250 0 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

281 1 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

1015 3 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

122 1 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

365 0 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

152 0 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

244 1 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

206 0 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

312 1 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

108 0 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

159 0 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

196 4 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

287 1 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

200 1 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

744 0 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

103 3 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

151 0 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

174 1 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

124 3 1

29 Nov 2010 : Case report  

Recklinghausen disease

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

Am J Case Rep 2010; 11:214-217

105 1 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

159 1 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

126 0 0

10 May 2010 :   

Neurofibromatosis-1

Anna Strzalka, Marta Kuczma, Bozena Romanowska-Dixon

Am J Case Rep 2010; 11:93-96

154 0 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

294 2 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

165 15 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

833 13 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

143 2 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

86 0 0