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 pattern of genetic transmission.
Agenesis of the corpus callosum with significant gross motor and developmental delay is associated with this medical condition. The circular-shaped head as a result of lambdoid synostosis (no surgical correction was required), broad forehead, and triangular-shaped face are characteristics of this disorder. 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.
The presence of a variable degree of developmental delayed may render the patient uncooperative at the time of induction. Cranial synostosis, especially when two sutures are involved, is usually associated with elevated intracranial pressure, which would be an important consideration. Osteopenic bones may be fragile and prone to fracture during handling and positioning of anesthetized patients.
RA: Agenesis of the corpus callosum with mental retardation and osseous lesions. Am J Med Genet