Congenital polymalformative syndrome characterized by craniosynostosis, mild mental retardation, hearing loss, symmetric syndactyly of the toes, and 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. Congenital 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.
SM: Auralcephalosyndactyly: A new hereditary craniosynostosis syndrome. J Med Genet
JP, Van den Berghe
H: Auralcephalosyndactyly: A new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? J Med Genet