(Aase-Smith syndrome type II, Aase syndrome)

MIM [105 650, 300 946, 606 129, 606 164, 610 629, 612 527, 612 528, 612 561, 612562, 612 563, 613 308, 613 309, 614 900, 615 550, 615 909]

Prevalence: 1/125,000. Autosomal dominant transmission with variable penetrance of mutations of ribosomal protein of the small subunit (RPS7, RPS17, RPS19, RPS29)  or of the large subunit (RPL5, RPL11, RPL35a) of the ribosomes. In 25 % of cases,  mutation of the gene coding for RPS19 (19q13.3) ; in 9 % mutation of the RPL5 gene (cleft palate) and in 6.6 % mutation of the RPL11 gene (thumb anomalies). Congenital red blood cells hypoplasia: anemia generally diagnosed before two years of age.

In 50 % of cases :

-        short stature

-        associated malformations: craniofacial (cleft palate, Pierre Robin sequence), malformation of thumbs or  radius (Aase syndrome ), urogenital malformation, sometimes cardiac malformations.

Treatment : steroids in steroid-sensitive forms, repeated blood transfusions associated with an iron-chelating treatment; bone marrow transplantation.

Anesthetic implications:

aregenerative anemia. Iron overload following repeated blood transfusion. Possibly post-bone marrow transplantation status.

References :

-        Katircioglu K, Kavrut NO, Ozkalkanli MY, Savaci S. 
Anesthetic management in a child with Diamond-Blackfan anemia.
Pediatr Anesth 2008; 18: 575-6.

Updated: Septembre 2016