We describe cortical malformations in two siblings who also had features of
Adams-Oliver syndrome (AOS, MIM 100300), The parents were first cousins an
d showed no signs of either disorder, suggesting autosomal recessive inheri
tance. Psychomotor delay was present in both sibs, and cerebral imaging was
indicative of polymicrogyria (PMG;). One sib had aplasia cutis congenita o
f the scalp and transverse limb defects, and the other had short fingers an
d toes and also developed lymphedema of the right leg. CNS abnormalities an
d lymphatic abnormalities are rare manifestations of AOS, and we suggest th
at these sibs have a rare variant of AOS with probable recessive inheritanc
e. (C) 2000 Wiley-Liss, Inc.