[MIM 600 430]

(acronym of Thrombocytopenia and Absence of the Radius),

(Tetraphocomelia-thrombocytopenia syndrome).

Autosomal recessivetransmission of anomalies of the 1q21.1 region which includes the RBM8A gene. Thrombocytopenia, agenesis of the radius. Dislocation of the hip, subluxation of knee, congenital heart disease. Hemorrhagic risk, potentially lethal risk during the first 14 months of life.

Anesthetic implications:

Difficult venous access. Hemorrhagic diathesis.

References:

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018 ; 31 : 160-7.

Updated: December 2020