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Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features.
Klin Padiatr. 1988 Jan-Feb; 200(1):10-4.KP

Abstract

Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.

Authors+Show Affiliations

Istituto Materno-Infantile, Università di Palermo.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3367608

Citation

Giuffrè, L, et al. "Two New Cases of Thrombocytopenia Absent Radius (TAR) Syndrome: Clinical, Genetic and Nosologic Features." Klinische Padiatrie, vol. 200, no. 1, 1988, pp. 10-4.
Giuffrè L, Cammarata M, Corsello G, et al. Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features. Klin Padiatr. 1988;200(1):10-4.
Giuffrè, L., Cammarata, M., Corsello, G., & Vitaliti, S. M. (1988). Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features. Klinische Padiatrie, 200(1), 10-4.
Giuffrè L, et al. Two New Cases of Thrombocytopenia Absent Radius (TAR) Syndrome: Clinical, Genetic and Nosologic Features. Klin Padiatr. 1988 Jan-Feb;200(1):10-4. PubMed PMID: 3367608.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features. AU - Giuffrè,L, AU - Cammarata,M, AU - Corsello,G, AU - Vitaliti,S M, PY - 1988/1/1/pubmed PY - 1988/1/1/medline PY - 1988/1/1/entrez SP - 10 EP - 4 JF - Klinische Padiatrie JO - Klin Padiatr VL - 200 IS - 1 N2 - Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/3367608/Two_new_cases_of_thrombocytopenia_absent_radius__TAR__syndrome:_clinical_genetic_and_nosologic_features_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1033677 DB - PRIME DP - Unbound Medicine ER -