Malformative syndrome characterized by corpus callosum
agenesis associated with multiple skeletal anomalies.
Bone Dysplasia with Corpus Callosum Agenesis.
One case reported in the
literature. No mention of possible chromosomal abnormalities or method of
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.
Developmentally delayed patients may be
uncooperative. Cranial synostosis can lead to raised intracranial pressure,
although this was not the case in this patient. Osteopenic bones may be
fragile and prone to fracture during handling and positioning of
Kozlowski K, Ouvrier RA: Agenesis of the corpus callosum with mental
retardation and osseous lesions. Am J Med Genet