128 - Surgery for syndromic craniosynostosis

Summary

Syndromic craniosynostosis encompasses deformity of the cranial vault and facial skeleton, with craniosynostosis specifically defined as premature fusion of one or more of the cranial sutures. Accordingly, syndromic craniosynostosis includes several interacting conditions resulting from diverse causes and factors such as molecular and cellular events, genetic factors, and deformational and mechanical forces in association with a multitude of other clinical entities.

The most common syndromic craniostoses include Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Carpenter syndrome, and Saethre–Chofzen syndrome. Apert syndrome, known as acrocephalosyndactyly, is autosomal dominant in its inheritance pattern and occurs sporadically. This disease constellation includes craniosynostosis, especially of the coronal sutures, high arched palate, midfacial hypoplasia, symmetric compound syndactyly of the hands and feet, stapes fixation, and patent cochlear aqueduct. Crouzon syndrome, termed craniofacial dysostosis, is autosomal dominant in its inheritance pattern, occurs sporadically, and includes midfacial hypoplasia, craniosynostosis affecting the coronal sutures, exophthalmos, mandibular prognathism and small maxilla, hearing loss, and congenital enlargement of the sphenoid bone. Pfeiffer syndrome is autosomal dominant in its inheritance pattern and includes craniosynostosis, especially of the coronal sutures, broad thumbs and great toes, and occasional partial soft tissue syndactyly of the hands. Carpenter syndrome is autosomal recessive in its inheritance pattern and comprises craniosynostosis of the sagittal and lambdoidal sutures, polysyndactyly of the feet, brachdactyly of the fingers, and dinodactyly.