IVIC syndrome: report of a second family.
The IVIC syndrome derives its name from the Instituto Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am J Med Genet 6:25-59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation shows that the IVIC syndrome is not a private syndrome, and confirms that it is due to an autosomal dominant mutation.
Sammito
V
V
Oasi Institute for Research on Mental Retardation, Troina, Italy.
Motta
D
D
Capodieci
G
G
Sanfilippo
S
S
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D002675:Child, Preschool; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics