Agenesis of the corpus callosum with significant
gross motor and developmental delay. Circular-shaped head with lambdoid
synostosis (no surgical correction was required), broad forehead, and
triangular-shaped face. Diffuse bony abnormalities, including multiple
“Wormian” bones (named after the Danish anatomist Ole Worm [1588-1654], describing small
intrasutural bones [most commonly lambdoid suture], that can appear in significant numbers),
osteopenic vertebrae, thin ribs, short, straight and laterally tapering clavicles, abnormal
phalanges, and retarded bone age.