Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

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

55

Editorial

01 May 2024 : Editorial  

Editorial: First Regulatory Approval for Adoptive Cell Therapy with Autologous Tumor-Infiltrating Lymphocytes (TILs) – Lifileucel (Amtagvi)

Dinah V. Parums

DOI: 10.12659/MSM.944927

Med Sci Monit 2024; 30:e944927

In Press

15 Mar 2024 : Clinical Research  

Impact of Cluster Nursing Intervention on ICU Patients' Psychological Well-Being and Complications Associat...

Med Sci Monit In Press; DOI: 10.12659/MSM.942855  

26 Mar 2024 : Clinical Research  

New Computerized Planning Algorithm and Clinical Testing of Optimized Nuss Bar Design for Patients with Pec...

Med Sci Monit In Press; DOI: 10.12659/MSM.943705  

07 May 2024 : Clinical Research  

Treatment of AVN-Induced Proximal Pole Scaphoid Nonunion Using a Fifth and Fourth Extensor Compartmental Ar...

Med Sci Monit In Press; DOI: 10.12659/MSM.944553  

16 Mar 2024 : Clinical Research  

Diagnostic Efficiency of ACR-TIRADS Score for Differentiating Benign and Malignant Thyroid Nodules of Vario...

Med Sci Monit In Press; DOI: 10.12659/MSM.943228  

Most Viewed Current Articles

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

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.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750