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Mutations in fibroblast growth factor receptors 1, 2,
and 3, TWIST and MSX2 have been implicated in
certain syndromic craniosynostoses [7]. The exact
pathways of how these mutations cause premature
sutural fusion are still unknown.
INTRACRANIAL PRESSURE,
HYDROCEPHALUS AND COGNITIVE
DEFICITS
Intracranial hypertension results from a mismatch
between a constricted cranial vault and the
growth of the underlying brain. This condition is
an indication for early operative treatment for
craniosynostosis, as delayed treatment has irrevers-
ible consequences for vision and cognitive develop-
ment.
Marchac and Renier [8] found a 42% incidence
of intracranial hypertension in multisuture synos-
tosis and 13% in single suture synostosis. Although
changes associated with elevated intracranial
pressure (ICP) are more common in syndromic
craniosynostosis, one must be cognizant of these
findings in any patient with craniosynostosis. The
standard for measuring ICP is direct intradural or
intraventricular monitoring for a 24-h period to
record fluctuations during activity, sleep, and the
elevations caused by airway obstruction. Measuring
ICP via lumbar puncture is less invasive; however,
the results vary by positioning and provide measure-
ment at only a single point in time, making it less
reliable. Bulging fontanelles only offer a qualitative
assessment of intracranial hypertension. Papille-
dema has a sensitivity of only 22% in detecting
elevated ICP in children under 8 years old [9].
Copper beating seen on either computed tomo-
graphy (CT) or plain radiographic studies is a late
finding of intracranial hypertension, caused by
remodeling of the inner table due to adjacent gyri.
Hydrocephalus is a rare finding in nonsyndromic
craniosynostosis. In a large series of 1727 cases of
craniosynostosis, hydrocephalus was found in only
0.3% of nonsyndromic patients and 12.1% in
FIGURE 2.
3-month-old female with sagittal synostosis.
Maxillofacial surgery
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