6533b7dafe1ef96bd126d882
RESEARCH PRODUCT
Two new cases of Thrombocytopenia Absent Radius (TAR) syndrome: Clinical, Genetic and Nosologic Features
L. GiuffreM. CammarataGiovanni CorselloVitaliti Smsubject
Malecongenital hereditary and neonatal diseases and abnormalitiesPathologymedicine.medical_specialtyEctromeliaAnemiaChromosome DisordersGenes RecessiveRadial aplasiaBiologyConsanguinityBilateral radial aplasiahemic and lymphatic diseasesmedicineClinical geneticHumansAbnormalities MultipleChromosome AberrationsPlatelet CountTAR syndromeInfantSyndromemedicine.diseaseThrombocytopeniaDermatologySevere thrombocytopeniaRadiusPediatrics Perinatology and Child HealthFemaleAbsent radiusLeukemoid reactiondescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1988-01-01 | Klinische Pädiatrie |