Syndrome TAR

The syndrome TAR is a Syndrome described for the first time in 1959 and which associates a Thrombopénie and an absence of Radius. The absence of radius is primitive and not secondary with a defect of vascularisation.
approximately 40% of the new-born babies die the first days.

Associated diseases

  • Tétraphocomélie with thrombopénie

Etiology

  • Unknown

Description

In addition to the characteristic anomalies, one frequently finds a cardiopathy of the type Tétralogie of Hand lantern. Anomalies of the lower extremities are sometimes present and sévères.
Intolerance with the cow's milk is fréquente.
The rarer anomalies are: Angioma of the face, cerebral vascular malformation and Deafness.

differential Diagnosis

  • This pathology is to be differentiated with the Maladie from Fanconi because the thrombopénie is transitory and there does not exist attack of the other blood cells .
  • the palatine Division does not form part of the description of this syndrome and must make discuss the Syndrome of Roberts, the Phocomélie SC or the Trisomie 18.
  • the Syndrome of Holt-Oram because of association anomalies of the members and cardiopathy.

Mode of transmission

Sources

  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 274000
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