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[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.

Authors+Show Affiliations

Kaspers GJ
Ziekenhuis St. Joannes de Deo, Haarlem.
Schreuder CH
No affiliation info available
Veerman AJ
No affiliation info available

MeSH

Chromosome AberrationsChromosome DisordersFemaleGenes, RecessiveHand Deformities, CongenitalHumansInfant, NewbornMegakaryocytesRadiusSyndromeThrombocytopenia

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 - http://www.diseaseinfosearch.org/result/6998 DB - PRIME DP - Unbound Medicine ER -