IVIC syndrome is an autosomal dominant disorder caused by mutations of the SALL4 gene. Malformations include the radial ray of the upper limb, eyes (strabismus), and ears (congenital hearing loss).
Only few families are published so far.
Paradisi I et al. (2007) IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.[^]
Czeizel A et al. (1989) IVIC syndrome: report of a third family.[^]
Neri G et al. (1989) IVIC syndrome report by Czeizel et al.[^]
Sammito V et al. (1988) IVIC syndrome: report of a second family.[^]
Arias S et al. (1980) The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.[^]
Elçioğlu N et al. (1997) Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome).[^]
OMIM.ORG articleOmim 147750 [^]
Orphanet articleOrphanet ID 2307 [^]