Very rare. Autosomal dominant transmission of a mutation of the HOXA11 gene (7p15.2), type 1, [MIM 605 432] or the MECOM gene (3q26.2), type 2 [MIM 616 738]. Significant thrombocytopenia (10,000 to 30,000/ml) and radioulnar synostosis (limitation of pronosupination).

Often associated with

• clinodactyly
• hip hypoplasia
• hearing problems

Treatment: very early bone marrow allograft (stem cells).

Anesthetic implications:

• before transplantation:  total blood count; blood platelets transfusion if bleeding, avoid NSAID's.
• after transplantation:  management of a patient with a bone marrow transplant

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