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 GerychCase 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
639
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953653
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953506
Most Viewed Current Articles
07 Dec 2021 : Case report
22,773,072
DOI :10.12659/AJCR.934347
Am J Case Rep 2021; 22:e934347
06 Dec 2021 : Case report
179,002
DOI :10.12659/AJCR.934406
Am J Case Rep 2021; 22:e934406
21 Jun 2024 : Case report
122,896
DOI :10.12659/AJCR.944371
Am J Case Rep 2024; 25:e944371
07 Mar 2024 : Case report
67,375
DOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133






