Thrombocytopenia-absent radius syndrome

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
24053387
(3849061)
 MIXED_SAMPLE Adult
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, Scassellati GS, Silvestri E, Spagnuolo A, Laino L, Grammatico P.
BMC Res Notes. 2013;6:376.
The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia-absent radius syndrome.
6141091
 FEMALE Adult
Micrognathia-prenatal ultrasonographic diagnosis.
Shalev E, Weiner E, Feldman E, Cohen H, Zuckerman H.
Int J Gynaecol Obstet. 1983;21(4):343-5.
Recognition of micrognathia as a part of TAR syndrome and the easy visualization of fetal facial bones in the second trimester made diagnosis possible.