Adams-Oliver syndrome (AOS) is characterised by aplasia cutis congenita of
the scalp and variable degrees of terminal transverse limb defects. Short f
ingers and hypoplastic nails also occur in this predominantly autosomal dom
inant syndrome which displays marked variability of expression and lack of
penetrance in some cases. We describe a boy with AOS whose sister is also m
ildly affected, Their mother has hypoplastic fifth toenails which may repre
sent very mild expression of the syndrome. Brain (computed tomography) imag
ing to investigate mild left hemiparesis in the boy demonstrated severe cor
tical dysplasia of central, occipital and anterior regions of the right cer
ebral hemisphere. A variety of brain and cranial malformations has been rep
orted in AOS but dysplasia of the cerebral cortex has not been noted previo
usly. 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.