Monday, August 20, 2012
Hereditary Syndromes Associated with Craniosynostoses
Dolichocephaly is a craniosynostosis involving premature closure of the sagittal suture resulting in an elongated head shape as shown above. The craniosynostoses were previously discussed here: craniosynostoses.
Hereditary syndromes that are associated with craniosynostoses are:
Crouzon syndrome: premature synostosis, maxillary hypoplasia, shallow orbits
Apert's syndrome: Coronal synostosis, midfacial hypoplasia, bilateral syndactyly, symphalangism (ankylosis of interphalangeal joints)
Pfeiffer syndrome: premature synostosis, broad thumbs and great toes, mild syndactyly
Carpenter syndrome: premature synostosis, severe developmental delay, brachydactyly, syndactyly, thumb duplication.
Acquired conditions that can result in premature synostosis include Rickets, hypophosphatasia, and mucopolysaccharidoses.
REFERENCES
Glass RBJ, Fernbach SK, Norton KI, et al. Radiographics 2004;24:507-22.
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