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thrombocytopenia-absent radius (TAR) syndrome

Genetics: autosomal recessive Clinical manifestations: 1) radial aplasia or hypoplasia 2) atrial septal defect 3) tetralogy of Fallot 4) symptomatic in infancy, but later improves 5) renal anomalies Laboratory: thrombocytopenia

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 274000

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  2. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995