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Thrombocytopenia absent radius (TAR) syndrome
Mehmedali Azemi1, Selim Kolgeci, Violeta Grajcevci-Uka
1Pediatric Clinic, University Clinical Center of Kosova, Mother Teresa street nn. Prishtini, Prishtina, Kosovo mehmedaliazemi@hotmail.com
Medicinski Arhiv
|July 23, 2011
Summary
Thrombocytopenia absent radius (TAR) syndrome is a rare genetic disorder characterized by low platelets and absent radii. Early diagnosis and intrauterine platelet transfusions can improve outcomes for affected infants.
Area of Science:
- Medical Genetics
- Pediatric Hematology
Background:
- Thrombocytopenia absent radius (TAR) syndrome is a rare autosomal recessive disorder.
- It is characterized by congenital amegakaryocytic thrombocytopenia and bilateral absence of the radius.
Observation:
- A case of TAR syndrome in a two-month-old female infant presenting with petechial bleeding, upper limb anomalies, and diarrhea.
- Laboratory findings included anemia, leukemoid reaction, prolonged bleeding time, and rare peripheral platelets with decreased/absent megakaryocytes in bone marrow.
Findings:
- Radiological examination confirmed bilateral absence of the radius.
- Diagnosis was supported by pedigree, laboratory results, bone marrow biopsy, and karyotype.
Implications:
- TAR syndrome necessitates early diagnosis, potentially via prenatal ultrasound at 16 weeks gestation.
- Intrauterine platelet transfusions may be considered for affected pregnancies.
- Mortality is influenced by patient age and platelet count.
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