AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE

We present data on 10 patients from 5 families with a condition of mic rocephaly, intracranial calcification, and a clinical course resemblin g congenital TORCH infection. Repeatedly, negative TORCH investigation s are a prerequisite for the identification of this disorder and the v alue of disturbed liver function and thrombocytopenia as aids to diagn osis is emphasised. Several similar families with recurrence of the di sease in sibships are identified in the literature and the genetic imp lications of our observations are considered. (C) 1994 Wiley-Liss, Inc .