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

20 April 2004

Trombocytopenia with absent radius (TAR) syndrome – four consecutive pregnancies in one family

Hana Viskova , Pavel Calda , Zdenek Zizka , Jan Evangelista Jirasek , Josef Kofer , Pavel Gerych

Case Rep Clin Pract Rev 2004; 5(null):254-257 :: ID: 12331

Abstract

Background: TAR syndrome represents an autosomal recessive syndrome with 25% recurrence risk for a sib. The hallmark of this disorder is absence of the radius with presence of a normal thumb
and trombocytopenia.Case Report: We report on a rare case of four consecutive pregnancies in one family. Three of those pregnancies ended with a birth or abortion of affected neonate or fetus and one pregnancy ended with spontaneous abortion in early first trimester. In the forth pregnancy, ultrasound examination performed in 13th week of pregnancy showed not only bilateral phocomelia, which is typical ultrasound finding in TAR syndrome, but hygroma colli cysticum too. The presence of cystic hygroma in a fetus with TAR syndrome has not been described yet.

Keywords: TAR syndrome, Prenatal Diagnosis, ultrasound

Add Comment 0 Comments

597

In Press

Case report  China

Acute Appendicitis as a Precipitating Factor for Diabetic Ketosis in Newly Diagnosed Type 2 Diabetes Mellit...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952909  

Case report  Poland

Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.950868  

Case report  Japan

Right Ventricular Metastasis From Cervical Cancer Treated With Pembrolizumab-Containing Chemotherapy: A Cas...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952931  

Case report  China

Chest Pain Due to Anomalous Origin of the Left Circumflex Artery From the Opposite Sinus of Valsalva in a 7...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952577  

Most Viewed Current Articles

07 Dec 2021 : Case report  USA 22,759,844

Edwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...

DOI :10.12659/AJCR.934347

Am J Case Rep 2021; 22:e934347

06 Dec 2021 : Case report  Brazil 176,022

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

21 Jun 2024 : Case report  China (mainland) 120,540

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 65,552

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

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