Thrombocytopenia-absent radius syndrome

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

Absent radius

Missing radius bone associated with congenital failure of development.


Total: 58

                       


(per page)
PMID (PMCID)
31006900
 OTHER
Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described.
Hipolito LN, Mendoza-Cembranos MD, Villaescusa MT, Jo-Velasco M, Requena L, Alegria-Landa V.
J Cutan Pathol. 2019;:.
We describe a patient with thrombocytopenia-absent radius (TAR) syndrome, multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas.
28259746
 MALE Middle Aged
Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.
Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U.
Hematol Oncol Stem Cell Ther. 2018;11(4):245-247.
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present.
28259746
 MALE Middle Aged
Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.
Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U.
Hematol Oncol Stem Cell Ther. 2018;11(4):245-247.
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present.
29464836
 FEMALE Adult
The presentation and management of platelet disorders in pregnancy.
Goldman BG, Hehir MP, Yambasu S, O'Donnell EM.
Eur J Haematol. 2018;100(6):560-566.
These include gestational thrombocytopenia, immune thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP) and thrombocytopenia absent radius (TAR) syndrome.
25908903
(4381885)
 OTHER
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association.
Kumar C, Sharma D, Pandita A, Bhalerao S.
Int Med Case Rep J. 2015;8:81-5.
We describe a 3-month-old infant who was diagnosed with TAR syndrome on the basis of clinical features (thrombocytopenia and bilateral absent radius bone and confirmed by genetic analysis).
25954675
 OTHER
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
Kumar MK, Chaudhary IP, Ranjan RB, Kumar P.
J Clin Diagn Res. 2015;9(3):SD01-2.
Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies.
25954675
 OTHER
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
Kumar MK, Chaudhary IP, Ranjan RB, Kumar P.
J Clin Diagn Res. 2015;9(3):SD01-2.
Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies.
25954675
 OTHER
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
Kumar MK, Chaudhary IP, Ranjan RB, Kumar P.
J Clin Diagn Res. 2015;9(3):SD01-2.
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
24769264
 MIXED_SAMPLE Infant, Newborn
A new approach for molecular diagnosis of TAR syndrome.
Yassaee VR, Hashemi-Gorji F, Soltani Z, Poorhosseini SM.
Clin Biochem. 2014;47(9):835-9.
Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder inherited in an autosomal recessive fashion.
25275986
 FEMALE Middle Aged
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome.
Reid DB, Pugliano VL, Smith EL.
Orthopedics. 2014;37(10):e946-51.
Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic condition with a complex inheritance pattern.
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.
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.
23090811
 FEMALE
An infant with congenital fibula deficiency accompanying with deafness.
Cekmez F, Pirgon O, Canpolat FE.
Eur Rev Med Pharmacol Sci. 2012;16 Suppl 4:62-3.
Other anomalies includes cardiac anomalies, thrombocytopenia absent-radius (TAR) syndrome, thoracoabdominal schisis, spina bifida and renal anomalies, but most associated anomalies are skeletal.
22742195
(3404954)
 OTHER
Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report.
Omran A, Sahmoud S, Peng J, Ashhab U, Yin F.
J Med Case Rep. 2012;6:168.
Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report.
21428712
 MALE Child
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion.
Giordano P, Cecinati V, Grassi M, Giordani L, De Mattia D, Santoro N.
Immunopharmacol Immunotoxicol. 2011;33(4):754-8.
We describe a child with thrombocytopenia-absent radius (TAR) syndrome in whom a refractory Langerhans cell histiocytosis (LCH) developed at 9 years.
21776884
 FEMALE Infant
Thrombocytopenia absent radius (TAR) syndrome.
Azemi M, Kolgeci S, Grajcevci-Uka V, Berisha M, Ismaili-Jaha V, Spahiu L.
Med Arh. 2011;65(3):178-81.
The aim of the work was a presentation of one case with Thrombocytopenia absent radius (TAR) syndrome.
21776884
 FEMALE Infant
Thrombocytopenia absent radius (TAR) syndrome.
Azemi M, Kolgeci S, Grajcevci-Uka V, Berisha M, Ismaili-Jaha V, Spahiu L.
Med Arh. 2011;65(3):178-81.
Thrombocytopenia absent radius (TAR) syndrome.
21617282
 MALE Infant
[Thrombocytopenia-absent radius - TAR-syndrome].
Pavlenishvili IV, Mchedleshvili NV, Gotua TA.
Georgian Med News. 2011;(193):86-8.
[Thrombocytopenia-absent radius - TAR-syndrome].
21617282
 MALE Infant
[Thrombocytopenia-absent radius - TAR-syndrome].
Pavlenishvili IV, Mchedleshvili NV, Gotua TA.
Georgian Med News. 2011;(193):86-8.
Thrombocytopenia-absent radius - TAR-syndrome is a rare condition in which thrombocytopenia is associated with bilateral radial aplasia.
21617282
 MALE Infant
[Thrombocytopenia-absent radius - TAR-syndrome].
Pavlenishvili IV, Mchedleshvili NV, Gotua TA.
Georgian Med News. 2011;(193):86-8.
In article the 30 day infant with thrombocytopenia-absent radius - TAR-syndrome is described.
18081833
 MIXED_SAMPLE Child
Congenital FX deficiency combined with other clotting defects or with other abnormalities: a critical evaluation of the literature.
Girolami A, Ruzzon E, Tezza F, Scandellari R, Scapin M, Scarparo P.
Haemophilia. 2008;14(2):323-8.
Isolated FX deficiency and, more frequently, combined FX + FVII deficiency appear also associated with coagulation-unrelated abnormalities (carotid body tumours, mitral valve prolapse, atrial septal defect, ventricular septal defect, thrombocytopenia absent radius (TAR) syndrome, mental retardation, microcephaly and cleft palate).