Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome

Adams-Oliver syndrome (AOS) is characterised by aplasia cutis congenita of the scalp and variable degrees of terminal transverse limb defects. Short fingers and hypoplastic nails also occur in this predominantly autosomal dominant syndrome which displays marked variability of expression and lack of penetrance in some cases. We describe a boy with AOS whose sister is also mildly affected, Their mother has hypoplastic fifth toenails which may represent very mild expression of the syndrome. Brain (computed tomography) imaging to investigate mild left hemiparesis in the boy demonstrated severe cortical dysplasia of central, occipital and anterior regions of the right cerebral hemisphere. A variety of brain and cranial malformations has been reported in AOS but dysplasia of the cerebral cortex has not been noted previously. In addition, the boy and his sister have apparent constriction rings present on the toes which are uncommon in AOS, Am, J, Med. Genet, 86:15-19, 1999. (C) 1999 Wiley-Liss, Inc.