Congenital polymalformative syndrome characterized by
craniosynostosis, mild mental retardation, hearing loss, symmetric syndactyly of the
possible congenital heart defect.
Five cases have been documented in
the literature. Presumed autosomal dominant inheritance. Normal karyotype.
Facial anomalies include bilateral coronal craniosynostosis without
neurologic sequelae, relatively narrow pinnae inferiorly and short
columella, and symmetrical syndactyly of the fourth and fifth toes. Two of the
five cases developed mild mental retardation and hearing loss. One case died
in infancy as a consequence of congenital heart disease (unknown type).
Isolated craniosynostosis usually does
not interfere with airway management, but it may be associated with other
craniofacial abnormalities. Raised intracranial pressure can occur secondary
to fused cranial sutures. If more than two sutures are affected, up to 38%
of patients will have
increased intracranial pressure. Cranial vault reconstruction involves
large volume blood product transfusion and risk of air embolus.
Large-bore venous access and invasive pressure monitoring is therefore recommended.
heart disease may be associated with this syndrome, and the patient should
be evaluated appropriately (history and physical examination,
electrocardiogram, echocardiogram). Considerations for the patient with a
congenital cardiac lesion include knowledge of the anatomy and
pathophysiology, subacute bacterial endocarditis prophylaxis, and strict avoidance of air embolus.
Mental retardation and hearing loss may compromise cooperation.
Kurczynski TW, Casperson SM: Auralcephalosyndactyly: A new hereditary
craniosynostosis syndrome. J Med Genet
Legius E, Fryns JP, Van den Berghe H: Auralcephalosyndactyly: A new craniosynostosis syndrome or
a variant of the Saethre-Chotzen syndrome? J Med Genet