Search results for "Absent radius"

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First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy

2005

First trimestermedicine.medical_specialtyText miningbusiness.industryObstetricsTAR syndromemedicineTriplet PregnancyObstetrics and GynecologyAbsent radiusmedicine.diseasebusinessGenetics (clinical)Prenatal Diagnosis
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Two new cases of Thrombocytopenia Absent Radius (TAR) syndrome: Clinical, Genetic and Nosologic Features

1988

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.

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 reactionKlinische Pädiatrie
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