Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

16 December 2015 : Case report  France

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

Challenging differential diagnosis, Unusual setting of medical care, Rare disease, Congenital defects / diseases, Clinical situation which can not be reproduced for ethical reasons

Elena OldaniABEF, Catherine GarelDF, Martine BucourtBD, Lionel CarbillonABEF

DOI: 10.12659/AJCR.895526

Am J Case Rep 2015; 16:882-885

Related articles

11 May 2020 : Case report

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

Héctor Cruz-Camino, Mercedes Vázquez-Cantú [...]

DOI: 10.12659/AJCR.919463

Am J Case Rep 2020; 21:e919463

1945 42 12

11 Jun 2020 : Clinical Research

A Novel Metallic Artifact Reduction Technique When Using a Computed Tomography-Guided Percutaneous Metallic Antenna to Ablate Malignant Pulmonary Nodules: A Qualitative and Quantitative Assessment

Guorong Wang, Zhiwei Wang [...]

DOI: 10.12659/MSM.923541

Med Sci Monit 2020; 26:e923541

1526 20 20

18 Oct 2018 : Clinical Research

Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency

Sitao Li, Yao Cai [...]

DOI: 10.12659/MSM.911295

Med Sci Monit 2018; 24: CLR7431-7437

2064 20 9

02 Apr 2015 : Clinical Research

Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV

Jing Yuan, Song Li [...]

DOI: 10.12659/MSM.892786

Med Sci Monit 2015; 21:964-969

1352 6 8

05 Jul 2015 : Clinical Research

Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center

Jinlai Meng, Chelsea Matarese [...]

DOI: 10.12659/MSM.893870

Med Sci Monit 2015; 21:1942-1948

1342 8 24

29 Jan 2008

Prenatal drug exposure and teratological risk: one-year experience of an Italian Teratology Information Service

Marco De Santis, Elena Cesari [...]

Med Sci Monit 2008; 14(2): PH1-8

1598 31 16

01 Apr 2010

Advances in the research of fetal DNA in maternal plasma for noninvasive prenatal diagnostics

Barbora Vlkova, Tomas Szemes [...]

Med Sci Monit 2010; 16(4): RA85-91

1410 24 17

In Press

Case report  USA

Efficacy of Cold Atmospheric Plasma in Chronic Diabetic Foot Ulcer Management: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.945462  

0:00

Case report  Taiwan

Uncommon Cardiac Perforation and Lead Displacement After Pacemaker Implantation: A Case Study and Diagnosti...

Am J Case Rep In Press; DOI: 10.12659/AJCR.945008  

Case report  Bulgaria

Diagnostic Challenges in Malignant Hyperthermia and Anesthesia-Induced Rhabdomyolysis: A Case Study

Am J Case Rep In Press; DOI: 10.12659/AJCR.946306  

Case report  China

Complex Organ Injury Management in Abdominal Trauma: Case of a Heavy Iron Plate Accident

Am J Case Rep In Press; DOI: 10.12659/AJCR.945981  

Most Viewed Current Articles

21 Jun 2024 : Case report  China (mainland) 78,462

Intracranial Parasitic Fetus in a Living Infant: A Case Study with Surgical Intervention and Prognosis Anal...

DOI :10.12659/AJCR.944371

Am J Case Rep 2024; 25:e944371

0:00

07 Mar 2024 : Case report  USA 46,330

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

10 Jan 2022 : Case report  Germany 33,075

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

0:00

23 Feb 2022 : Case report  USA 21,596

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923