[Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].Tijdschr Kindergeneeskd. 1989 Aug; 57(4):141-6.TK
Abstract
A girl is described with the thrombocytopenia and absent radii (TAR) syndrome. The literature concerning this rare, autosomal recessive inherited syndrome is discussed. The main characteristics are bilateral radius aplasia in which the thumbs are present in combination with a a- or hypomegakaryocytic thrombocytopenia. Many other anomalies and associated disorders are described in the literature, especially in the haematological, skeletal, cardiac and intestinal fields. The treatment is mainly directed to the haemorrhagic diathesis and the orthopaedic problems. It is suggested that the mortality-rate--mainly a consequence of haemorrhage--which used to be 30-40%, has diminished thanks to the evolution of platelet transfusion therapy.
MeSH
Pub Type(s)
Case Reports
English Abstract
Journal Article
Review
Language
dut
PubMed ID
2678600
Citation
Kaspers, G J., et al. "[Thrombocytopenia and Absent Radii Syndrome (TAR). Case Report and Literature Discussion]." Tijdschrift Voor Kindergeneeskunde, vol. 57, no. 4, 1989, pp. 141-6.
Kaspers GJ, Schreuder CH, Veerman AJ. [Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion]. Tijdschr Kindergeneeskd. 1989;57(4):141-6.
Kaspers, G. J., Schreuder, C. H., & Veerman, A. J. (1989). [Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion]. Tijdschrift Voor Kindergeneeskunde, 57(4), 141-6.
Kaspers GJ, Schreuder CH, Veerman AJ. [Thrombocytopenia and Absent Radii Syndrome (TAR). Case Report and Literature Discussion]. Tijdschr Kindergeneeskd. 1989;57(4):141-6. PubMed PMID: 2678600.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - [Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].
AU - Kaspers,G J,
AU - Schreuder,C H,
AU - Veerman,A J,
PY - 1989/8/1/pubmed
PY - 1989/8/1/medline
PY - 1989/8/1/entrez
SP - 141
EP - 6
JF - Tijdschrift voor kindergeneeskunde
JO - Tijdschr Kindergeneeskd
VL - 57
IS - 4
N2 - A girl is described with the thrombocytopenia and absent radii (TAR) syndrome. The literature concerning this rare, autosomal recessive inherited syndrome is discussed. The main characteristics are bilateral radius aplasia in which the thumbs are present in combination with a a- or hypomegakaryocytic thrombocytopenia. Many other anomalies and associated disorders are described in the literature, especially in the haematological, skeletal, cardiac and intestinal fields. The treatment is mainly directed to the haemorrhagic diathesis and the orthopaedic problems. It is suggested that the mortality-rate--mainly a consequence of haemorrhage--which used to be 30-40%, has diminished thanks to the evolution of platelet transfusion therapy.
SN - 0376-7442
UR - https://www.unboundmedicine.com/medline/citation/2678600/[Thrombocytopenia_and_absent_radii_syndrome__TAR___Case_report_and_literature_discussion]_
L2 - https://www.diseaseinfosearch.org/result/6998
DB - PRIME
DP - Unbound Medicine
ER -