[MIM 147 750]

(IVIC syndrome)

Spanish acronym for Instituto  Venezalo de Investagaciones Cientificas.

Autosomal dominant transmission of a mutation of the SALL4 gene (20q13.2). Close to Okihiro syndrome (see this term) or Duane Radial ray syndrome.

It combines:

• a moderate thrombopenia
• upper limb abnormalities: forearm hypoplasia, hypoplasia of the thumbs, hypoplasia of the first metacarpal, fusion of carpal bones
• deafness
• involvement of the external oculomotor muscles
• sometimes: heart defect, imperforate anus.

Anesthetic implications:

difficult peripheral venous access, deafness, 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