220 - Syndromic Craniosynostosis

Abstract

The treatment of syndromic craniosynostosis is complex and controversial. It must be managed using a multidisciplinary approach with multiple specialties beyond neurosurgery and plastic surgery, including genetics, ophthalmology, oculoplastic surgery, pulmonary surgery, sleep medicine, and otolaryngology. Craniofacial teams are confronted with five more common diagnoses (Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chozen syndromes), but advances in genetic testing have revealed more than 180 syndromes associated with craniosynostosis. In contrast with most nonsyndromic craniosynostosis patients, a variety of interventions in the neonatal period (e.g., tarsorrhaphy, tracheostomy, ventriculoperitoneal shunting, craniectomy, cardiac surgery) may be necessary. The cognitive effects of these syndromes vary between and within syndromes, demanding that the team act aggressively in enrolling patients in early-life developmental programs. The choice and timing of surgical treatment for the head and face is controversial. The overriding goals for surgical craniofacial treatment are to allow early brain growth, ensure ventricular and posterior fossa decompression, improve airway and orbital volumes, and improve head and facial appearance. An overarching principle is to accomplish these goals with the lowest number of operations. Posterior vault distraction osteogenesis has become a frequent surgical procedure, and its use has altered the treatment paradigm in many centers. This procedure allows for a greater degree of intracranial expansion while allowing beneficial delays in frontal and midfacial surgery, which may reduce the rate of reoperative surgery. In this chapter, we propose such an algorithm for management. Syndromic craniosynostosis patients are fragile, complex, and heterogeneous, demanding close follow-up with a multidisciplinary craniofacial team from birth to maturity. The future will yield additional clinical outcomes data from new paradigms of treatment as well as additional noninvasive modalities for monitoring intracranial pressure.