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
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