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3 Diagnosis andClassication ofCraniosynostoses
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41
26. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones
BM, Malcolm S.Mutations in the broblast growth
factor receptor 2 gene cause Crouzon syndrome. Nat
Genet. 1994;8:98–103.
27. Rutland P, Pulleyn LJ, Reardon W, et al. Identical
mutations in the FGFR2 gene cause both Pfeiffer
and Crouzon syndrome phenotypes. Nat Genet.
1995;9:173–6.
28. Muenke M, Gripp KW, McDonald-McGinn DM,
Gaudenz K, Whitaker LA, Bartlett SP, etal. A unique
point mutation in the broblast growth factor receptor
3 gene (FGFR3) denes a new craniosynostosis syndrome. Am J Hum Genet. 1997;60:555–64.
29. Meyers G, Day D, Goldberg R, etal. FGFR2 exon IIIa
and IIIc mutations in Crouzon, Jackson-Weiss, and
Pfeiffer syndromes: evidence for missense changes,
insertions, and a deletion due to alternative RNA
splicing. Am J Hum Genet. 1996;58:491–8.
30. Pearce MS, Salotti JA, Little MP, McHugh K, Lee
C, Kim KP, etal. Radiation exposure from CT scans
in childhood and subsequent risk of leukaemia and
brain tumours: a retrospective cohort study. Lancet.
2012;380:499–505.
31. Furuya Y, Edwards MS, Alpers CE, Tress BM,
Ousterhout DK, Norman D.Computerized tomography
of cranial sutures. Part 1: comparison of suture anatomy
in children and adults. J Neurosurg. 1984;61:53–8.
32. Aviv RI, Rodger E, Hall CM.Craniosynostosis. Clin
Radiol. 2002;57:93–102.
33. Agochukwu NB, Solomon BD, Muenke M. Impact
of genetics on the diagnosis and clinical management
of syndromic craniosynostoses. Childs Nerv Syst.
2012a;28:1447–63.
34. Britto JA, Chan JC, Evans RD, Hayward RD, Jones
BM. Differential expression of broblast growth
factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis. Plast Reconstr Surg.
2001;107:1331–8.
35. Di Rocco F, Baujat G, Arnaud E, Rénier D, Laplanche
JL, etal. Clinical spectrum and outcomes in families
with coronal synostosis and TCF12 mutations. Eur J
Hum Genet. 2014;22:1413–6.
36. Chun K, Teebi AS, Azimi C, Steele L, Ray
PN. Screening of patients with craniosynostosis: molecular strategy. Am J Med Genet.
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37. Boyadjiev SA. Genetic analysis of non- syndromic
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38. Chumas P, Cinalli G, Arnaud E, etal. Classication
of previously unclassied cases of craniosynostosis. J
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39. Hall HS, Decker J.Calvarial suture morphogenesis:
cellular and molecular aspects. In: Scientic foundations and surgical treatment of craniosynostosis.
Philadelphia: Williams & Wilkins; 1989.
40. Cunningham ML, Seto ML, Ratisoontorn C, Heike
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41. Horsley SW, Moloney DM, Oldridge M, Twigg SR,
etal. A comprehensive screen for TWIST mutations in
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Treatment Principles
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inCraniosynostosis
ChristianLinz andTilmannSchweitzer
4
Introduction
When treating patients with craniosynostosis,
focus should always be placed on patient-centred
and symptom-oriented principles [1]. Universal
algorithms do not have any advantage in treatment strategies. Even worse, these algorithms
suggest that generally valid treatment strategies
are adoptable in unique individual situations.
However, follow-ups and surgical therapy should
be orientated towards individual situations and
problems. This chapter outlines general considerations that have to be borne in mind when treating patients with any form of craniosynostosis.
General Considerations
In craniofacial surgery, several distinct features
have to be taken into account both for surveillance and during surgery.
C. Linz (*)
Clinic for Cranio- Maxillofacial Surgery,
University of Cologne, Köln, Germany
e-mail: patricia.schweiger1@uk-koeln.de
T. Schweitzer
Clinic for Maxillofacial and Plastic Facial Surgery,
University of Würzburg, Würzburg, Germany
e-mail: schweitzer_t@ukw.de
Dural Layer
The dural layer represents the decisive matrix
that supplies the bone and that is “responsible”
for re-ossication. Surgeons should thus avoid
bipolar coagulation on the dura or (if inevitable) restrict themselves to short and punctual
coagulation. Necessary coagulation on the
dural layer or drilling on bone segments should
always be performed under continuous irrigation in order to prevent the development of
heat.
Growth Failure
The dural layer encodes genetic information on
skull bones and sutures as well as information on
the premature closure of the cranial sutures.
Therefore, surgery might correct morphology or
augment the intracranial space, but it cannot correct the underlying pathology of the prematurely
fused suture [2]. De facto, this means that the
growth problem and all its consequences cannot
be solved by a surgical approach. A few weeks
after surgery, the precondition of the suture status will return. This relapse—with its sequelae
for morphology and the restricted intracranial
space—plays a major role in craniofacial surgery. Therefore, surgical strategies must take
into account the time and possible
overcorrection.
© Springer Nature Switzerland AG 2023
U. Meyer (ed.), Fundamentals of Craniofacial Malformations,
https://doi.org/10.1007/978-3-031-28069-6_4
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Brain Expansion
Another important aspect is the fact that the
expansive forces of the growing brain prevent the
sutures from fusing. Sutures remain patent under
the continuous expansive forces of the brain
parenchyma [3]. Brain growth takes place in the
rst 12years of life, while the highest dynamics
is observable in the rst year of life. In the age of
4, already 80% of the total neurocranial volume
is reached.
For the surgeon as well as the concerned family, it is crucial to understand some basic mechanisms. The dural layer represents the decisive
matrix for bone supply and growth and also for
suture status. Surgical therapy therefore manages
to change the actual condition in terms of
restricted intracranial space or altered morphology. However, as stated above, surgery is not able
to change the underlying pathology for the individual suture status. Again, a relapse of prematurely fused sutures and the possible sequelae of
this relapse are inevitable.
We have already pointed out that the timing of
surgery is an important issue [4]. In the rst
7months of life, the dural layer is even capable of
inducing re-ossication over large areas of the
skull. That is why the principle of the so-called
passive remodelling works: Large areas of the
skull convexity are meticulously removed, and
fault lines are thereby temporarily solved, which
enables an abnormal skull to be corrected through
passive reshaping. Re-ossication then takes
place between 8 and 10weeks.
This principle of osteoclastic craniectomy is
employed, for example, in a broad median craniectomy in sagittal synostosis as well as in early
osteoclastic craniectomy in severe pansynostosis.
In the latter case, the existing pressure from the
brain parenchyma leads to a skull expansion, and
the dural layer causes re-ossication with
enlarged intracranial space. In selected cases,
surgical strategy might even comprise treating
enlarged ventricles at a later time point in order to
use the resulting expansive forces forming an
enlarged skull volume.
Performing surgery at a later time point with
less osteoplasticity but also with poorer growth
dynamics calls for different, so-called active
techniques in which bone segments are removed,
actively reshaped and re-xed in a corrected
position. Details on surgical techniques are discussed in detail in volume three.
Several xation techniques for newly arranged
bone segments exist. Due to appositional bone
growth in the rst years of life, titanium xations
have to be removed in a second surgery in order
to avoid transosseous migration of the titanium
plates. Osteosynthesis with absorbable material
leads to foreign-body reactions in the course of
resorption that might last for up to 12months. A
safe and stable xation might also be performed
by using sutures that are tightly xated in corresponding burr holes.
In order to carve out the distinct features, we
separate mono-sutural craniosynostosis from
complex or syndromal craniosynostosis in the
following descriptions. Due to similar strategies
or identical surgical considerations, however,
some redundancy may not be able to be avoided.
Treatment Principles inMonoSutural Craniosynostosis
Diagnostics
In single-suture craniosynostosis, the diagnosis is
mainly made by an experienced examiner during
the clinical view. An additional ultrasound helps
to clarify the diagnosis [5]. Regelsberger etal. [6]
describe the higher sensitivity of ultrasounds
than of CT scans in detecting fused sutures in the
rst year of life. However, both the clinical view
and ultrasounds require sufcient clinical experience [7]. In cases of doubt, plain skull radiographs [8] in the anterior-posterior and lateral
views usually clarify the actual state of the
sutures (Fig. 4.1). A CT scan yields additional
information on the intracranial situation, although
it is far less precise than an MRI.The belief that
the CT scan provides detailed information that
can be used to differentiate fused structures from
patent sutures is widespread, although plain
radiographs provide enough information for a
sound diagnosis with deliberately less radiation
exposure [9, 10]. Moreover, plain skull X-rays
can depict indirect signs of elevated ICP, as seen
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Fig. 4.1 Plain skull radiograph in AP projection clearly
elucidates patent sagittal, coronal and lambdoid sutures—
metopic suture already fused. (Unsere Literatur)
by convolutional markings that represent a negative copy of the brain sulci and gyri due to CSF
pulsations under the condition of limited intracranial space. Such radiographs also depict larger
emissary veins prior to any surgical therapy.
In case of an affected lambdoid suture, an MRI
should be planned in order to judge the intracranial
space or any abnormalities, such as a lack of space
in the posterior skull groove, which might lead to
a tonsillar herniation (Chiari malformation).
An additional genetic counselling synostosis—
even with no prior suspicion of syndromic association—is recommended in uni- or bilateral coronal
because some syndromes (e.g. Muenke syndrome
or Saethre–Chotzen syndrome) often demonstrate
very few syndromal features in their phenotype
[11, 12]. An additional, ophthalmoscopic workup
is also recommended if these sutures are involved
because motility disorders of the eyes might exist.
Possibly impaired ventilation of the middle ear
with resulting hearing restrictions and negative
implications for speech development also highlight the need for an ENT workup.
The ongoing discourse on possible cognitive and
developmental delays in any form of craniosynostosis makes neuropediatric testing preferable.
45
Additional diagnostics in modern craniofacial
units consist of photo documentation and 3D
stereophotogrammetry.
Indication forSurgery
The brain grows over the rst 12years of life,
although it displays signicant dynamics in the
rst 4years of life. In single-suture craniosynostosis, the probability of a disproportion between
available and needed space (in other words, the
probability of developing elevated intracranial
pressure) is below 10%. The critical period spans
the rst 12years of life. After surgical correction/
opening of a fused suture, the dural layer leads to
fast re-ossication as well as to suture re-fusion.
This highlights the fact that surgery cannot prevent the future development of raised intracranial
pressure.
Some authors justify surgical therapy with
reports on a delay in speech development or
minimal cognitive decits in single-suture craniosynostosis [13–15]. This seems difcult to
judge because distinctive analysis has only
been performed in large cohorts with children
who were operated on, and the analysis still
showed some minor decits. As even anaesthesia in the rst months of life is associated with
worse performance in cognitive testing, it
remains difcult to work out the true positive
effect of surgery [16–18]. However, recent
reports with very small patient numbers point
to some minor positive effects of surgical therapy, but sufcient proof does not yet exist. Our
large cohort reveals minor decits (if any)—
depending on the fused suture—in operated as
well as non-operated children who underwent
primary surgery in the rst 16months of life.
Recent reports on a possible genetic background and its association with altered neurodevelopment in some non- syndromic
craniosynostosis might improve our understanding and counselling in treatment strategies
[19]. Even though it is below 10%, there is still
some probability of elevated ICP in children
with single-suture craniosynostosis. As this
mismatch between required and available intracranial space develops slowly, the brain and its
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C. Linz and T. Schweitzer
functionality compensate for the lack of intracranial space over the years. Typical signs of
elevated intracranial pressure appear (if ever)
very late. A regular follow-up scheme should
thus include ophthalmoscopic surveillance in
order to rule out papilledema. In our department, we implement another follow-up in our
outpatient clinic at 1, 2, 4, 8, and 12years. We
thereby have the opportunity to see the patient
and to talk to their caregivers as well as to
obtain a plain skull radiograph in order to rule
out digital impressions as indirect signs of elevated ICP. Depending on the individual situations, these appointments might also include
follow-ups with speech therapists, neuropediatricians, etc.
In terms of indications for surgery, it is very
important to realise that there is a distinct tendency for harmonisation in non-operated
single- suture craniosynostosis. The authors
have witnessed a clear improvement in skull
morphology in all patients, which has been
objectied by photo documentation and analysis. Although each case is unique, we always
also elucidate the possibility of non-surgical
options.
Finally, it is very important to dene surgical
goals together with a patient’s parents in advance:
Surgical correction of a retruded forehead in a
unilateral coronal synostosis does not rearrange
facial scoliosis, which might become even more
obvious after forehead equation.
Surgical Therapy inMono-Sutural
Craniosynostosis
The distinct surgical techniques based on the
fused suture(s) are explained in detail in the third
book. Here, we aim to provide a short overview
of the different conditions in single-suture or
multi-suture complex craniosynostosis. The time
frame for a passive endoscopically assisted
approach is relatively limited to 3–4 months,
whereas open or active repositioning is carried
out in a much larger time frame of 5–15months
according to the individual strategy of the craniofacial centre.
Sagittal Craniosynostosis
The premature closure of the sagittal suture leads
to an elongated head shape with a high bregma
and restricted biparietal width. Three different
head shapes (possibly due to the region of the
beginning of the fusion within the sagittal suture)
can be differentiated:
• Leptocephaly
• Sphenocephaly
• Clinocephaly
Several techniques exist for correcting scaphocephaly, including early endoscopically assisted
strip craniectomies, endoscopically assisted
broader craniectomies and craniectomies at
5–7months of age in addition to several osteotomies and cranial remodelling. Springs are used to
prevent overly early reclosure [20].
Metopic Craniosynostosis
Premature fusion of the metopic sutures can
either lead to a simple bony ridge in the former
course of the suture or cause a trigonocephalic
conguration in the forehead in vertex view.
These variant manifestations might be due to the
different time points of the sutural fusion.
Surgical techniques include endoscopically
assisted early suturectomies as well as frontoorbital advancements and frontal remodelling.
Unilateral Coronal Craniosynostosis
Anterior plagiocephaly with a retruded forehead
on the fused side, an elevated orbit and facial scoliosis represents distinct features of a unicoronal
synostosis. The important differential diagnosis
of positional plagiocephaly has to be taken into
account and calls for a clinical evaluation by an
experienced craniofacial or paediatric neurosurgeon. As mentioned above, a premature fusion of
one or both coronal sutures should always trigger
suspicion of an underlying syndromic craniosynostosis, such as Muenke syndrome or Saethre–
Chotzen syndrome.
Unilateral craniosynostosis leads to an asymmetric head shape. Amblyopia might be a preexisting condition, but it can also be exaggerated
or be a consequence of surgical therapy because
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the insertion of the superior oblique muscle lies
in the surgical eld. This might even lead to corrective surgeries in the long run. The condition of
a dynamic growth failure that is not fully resolved
by surgical therapy highlights the need for an
overcorrection of the retruded forehead. Surgical
techniques include endoscopically assisted
approaches, although an overcorrection or an
active advancement of the fronto-orbital region is
difcult to realise.
Bilateral Coronal Craniosynostosis
Premature fusion of the whole coronal suture
leads to a brachy-turricephalic head shape with
early closure of the large fontanelle. If both
sutures did fuse at the same time point, the resulting head shape is still symmetric. Nevertheless,
the need for a distinct overcorrection is important
for good long-term results.
The surgical approach again consists of endoscopically assisted strip craniectomies [21] as
well as open advanced techniques, such as active
advancements or distractions.
Unilateral Lambdoid Synostosis
A premature fusion of one lambdoid suture without a syndromal context is a very rare condition
and has an incidence of 0.0003%. The striking
aspect of the clinical appearance is the downward
shift of the ear on the affected side. In the occipital view, a typical parallelogram shape results.
Further development leads to a compensatory
occipito-parietal bulging of the skull. The possibility of a tonsillar herniation (as well as local
problems or disturbed CSF circulation) makes
both a primary and a follow-up MRI indispensable requirements for further treatment
strategies.
For surgery, several techniques exist, such as
occipital remodelling techniques (with or without
occipital advancements) as well as utilisation of
distractors.
Bilateral Lambdoid Synostosis
The question remains as to whether a bilateral
lambdoid synostosis actually occurs in a nonsyndromic context. Even the so-called nonsyndromal bilateral lambdoid and sagittal
synostosis (BLSS) is termed a Mercedes–Benz
syndrome. That is why the characteristics are
sub-summoned in the syndromic part.
Several techniques exist for surgery, such as
occipital remodelling techniques (with or without
occipital advancements) as well as utilisation of
distractors.
Follow-Up inMono-Sutural
Craniosynostosis
The growth dynamics of brain parenchyma are
strong in the rst year of life. After 2–4years,
around 80% of brain growth is complete, but it
takes until 12years for the brain growth to be
fully complete. This denes the time span for
regular follow-ups. We have pointed out that the
probability of raised ICP due to limited space in
mono-sutural craniosynostosis is low. However,
the possibility of elevated ICP exists. Due to
relapse after surgery, it is crucial to realise that
even after surgery, the probability of developing
elevated ICP does not change signicantly. As
the brain is capable of adopting to slowly developing elevated ICP, clinical symptoms (e.g.
headaches, dizziness or vomiting) are often
absent for years. However, the authors have
experienced signicant progress (without any
noticeable problems) in areas of behaviour and
concentration after cranial remodelling in children with elevated ICP.This nding highlights
the need for careful surveillance in children
with any form of craniosynostosis. As long as
there are no conspicuities, regular follow-ups
are important pillars in every case of craniosynostosis. The follow-up scheme is guided by
knowledge of the physiological dynamics of
growth and the underlying abnormality (if
known).
This justies a regular follow-up scheme that
might be embellished according to an individual
centre’s standards. This follow-up has to be
adhered to in operated as well as non-operated
children with craniosynostosis.
In our centre, this follow-up standard includes
clinical follow-up, ophthalmoscopic surveillance
and plain skull radiographs in lateral projection.
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Clinical Follow-Up
Clinical abnormalities usually comprise mild
abnormalities, such as withdrawal tendencies,
impaired concentration or worsened learning
abilities.
Although they often remain unsuspicious or
develop slowly, some clinical abnormalities
might be associated with elevated ICP. Other
described signs of elevated ICP (e.g. headaches,
vomiting or dizziness) are usually associated
with a rapid change of intracranial pressure,
which appears very late (if at all) in mono-sutural
craniosynostosis. The same applies to convulsions associated with high ICP.
Clinical follow-up also enables photo documentation of the skull morphology and its course
over years.
Ophthalmoscopic Surveillance
Although papilledema usually represents a late
and inconsistent sign of elevated ICP, it is a valuable instrument for regular follow-ups.
Papilledema can be performed regularly with
minimal technical effort and is usually available
at every ophthalmologist. Therefore, it can be
performed twice per year and close to the home
of the patient and the patient’s family. Moreover,
possible ocular motility disorders require regular
support and possible surgical treatment.
In syndromic craniosynostosis, accompanying
midface hypoplasia often causes incomplete lid
closure with possible corneal damage. These
conditions need close ophthalmoscopic surveillance as well as medical treatment, or even tarsorrhaphy in selected cases.
Plain Radiographs
As mentioned under diagnostic steps, plain skull
radiographs deliver valuable information on the
suture status. Moreover, in follow-ups, indirect
signs of elevated ICP (e.g. convolutional markings that represent a negative copy of the brain
sulci and gyri under the condition of limited
intracranial space) can be depicted. Although
possibly also present in physiologic conditions, a
progression of convolutional markings is very
suspicious for the development of elevated ICP.
Treatment Principles inComplex/
Syndromal Craniosynostosis
Diagnostics
Syndromal craniosynostosis is also mainly diagnosed by the clinical view of an experienced
examiner. As the illness involves the premature
fusion of multiple sutures at different time points,
it is often difcult to dene the exact suture status. As in mono-sutural craniosynostosis, an
additional ultrasound helps to differentiate
between patent and fused sutures.
Analogous to mono-sutural craniosynostosis,
skull radiographs in AP and lateral view provide
additional and valuable information on the suture
status. Additionally, these radiographs exhibit
possible digital impressions as signs of elevated
ICP.However, in syndromal craniosynostosis, in
particular, these digital impressions need to be
clearly distinguished from radiographic signs of
immature bone architecture (so-called woven
bone). On the other hand, there exist diagnostic
pitfalls because signs of woven bone without
elevated ICP might translate to pressureassociated digital impressions.
In syndromic craniosynostosis, we generally
recommend an MRI in order to rule out intracranial
abnormalities, such as hypoplasia of the corpus callosum or hydrocephalus. This MRI should comprise an MR angiography that depicts the venous
drainage over the jugular foramen as this drainage
might be compromised in a syndrome- associated
narrowed bony skull base (Fig.4.2). Such abnormal venous drainage might lead to higher venous
pressure and thus to consecutive hydrocephalus or
even lead to pathologic emissary venous drainage
through altered outow. This abnormal drainage
might, for example, lead through ophthalmologic
veins or galeal veins in the nuchal region, thereby
injuring patients in surgery and leading to massive
bleeding complications.
After primary diagnostic workup with ultrasound, radiographs and an MRI, which together
provide sufcient information on the intracranial
situation, the additional value of a CT scan is
very limited, even in complex craniosynostosis.
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Fig. 4.2 MRI in sagittal plane demonstrating pathologic
venous drainage through galeal nuchal veins, corresponding angiography of the venous drainage with a dominant
Additional diagnostics in modern craniofacial
units include photo documentation and 3D
stereophotogrammetry.
Further important components of primary
diagnostics—such as ophthalmoscopy or genetic
counselling—are described in individual paragraphs below.
Early Adaptive Disorders
Early adaptive disorders often lead to intensive
care directly after delivery. Such disorders
include severe breathing problems caused by
midface hypoplasia or facial stenosis. This
restricted space in the upper airway is worsened
by an overly large portion of the tongue in a small
intraoral cavity. Additional problems might arise
through choanal stenosis or other factors, such as
a cleft palate.
Any suspicion of impaired breathing should
initiate fast evaluation and therapy. The therapeutic span covers nasal tubes, palate plate therapy
(e.g. “Tübingen palatal plate”) and nocturnal
oxygen (masks). Due to signicant morbidity, we
try to avoid an early operative midface distraction, although this remains the last option in
severe cases [22, 23].
transverse sinus on the right side and highly stenotic alterations leading to contrast medium discontinuation in the
region of the foramen jugulare (Own material)
In many infants, these adaptive disorders lead
to an early tracheotomy. It is very important to
point out that such intervention is associated with
severe problems over years (e.g. aphonic screaming, impaired speech development or development of a tracheomalacia) and should therefore
be avoided as far as is absolutely possible.
Alternatively, an early attempt to dilate a possible
choanal stenosis or the use of instrumentation
with nasal tubes helps to avoid a tracheotomy in
the vast majority of cases.
Impaired breathing affects sleeping as well:
An impaired sleeping architecture (especially the
lack of sufcient REM periods) causes severe
somatic and intellectual problems.
Indication forSurgery
Early conservative or surgical treatment is often
inevitable, especially in syndromic and multisutural conditions. However, often, the need for a
surgical intervention is scheduled too early or is
too extensive. In these small infants, the surgeon
faces increased morbidity and mortality due to
the small total blood volume in addition to technical restrictions, such as thin bone layers, which
break more easily or prevent distractors from
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being stably xated. It is critical to point out that
the very early timepoint of surgery almost inevitably results in an early relapse shortly
thereafter.
The surgeon has to dene specic primary
surgical goals, which can include
• Treating raised intracranial pressure
• Restoring functionality
• Changing the morphology of the neuro- and
viscerocranium
In complex or syndromic craniosynostosis, we
see a higher probability of elevated ICP [24]. It is
very important to note that the probability of elevated ICP in syndromic craniosynostosis varies
depending on the underlying mutation. We rarely
see higher ICPs in Muenke syndrome or in craniofrontonasal dysplasia, but we nd ICP escalations of more than 90% in Crouzon syndrome.
Another aspect of surgery is the fact that the
underlying dural matrix regenerates the same
fused sutures shortly after surgery. This means
that an early surgical decompression in an infant
with Crouzon syndrome does not solve the problem permanently because elevated ICP in the
years to come is highly probable.
Restricted functionality—such as breathing,
incomplete lid closure or disturbed swallowing—has to be addressed before the issue causes
any permanent impairments. In fact, this
restricted functionality can lead to early surgical
interventions, although the rule of thumb is that
the smaller the effective intervention is, the better. For example, a monobloc advancement
treats orbito- and craniostenosis in a single
approach but is associated with high morbidity.
Depending on the leading dysfunctionality, performing primarily a fronto-orbital advancement
followed by a midface distraction some weeks
later (or vice versa) is associated with far lower
morbidity.
Achieving a less noticeable skull morphology
is an understandable wish of caregivers. As these
growth failures show an impaired growth
dynamic, this element should always be kept in
mind and becomes more important at a later
timepoint.
Follow-Up inComplex/Syndromal
Craniosynostosis
The follow-up scheme is orientated around
dynamic growth changes and is scheduled in
intervals of no longer than 12months in the rst
4–6years of life and subsequently in intervals of
no longer than 24months.
In syndromic craniosynostosis, specic problem areas that should remain under regular
surveillance can be identied
• Craniosynostosis (possibly developing into
craniostenosis)
• Orbitostenosis
• Faciostenosis
• Concomitant malformations
The important time span for close surveillance
in mono-sutural craniosynostosis ends with the
12th year of life. Concerning brain expansion, this
time frame also applies to the syndromal entities.
However, the additional midface hypoplasia as
well as concomitant malformations call for a multidisciplinary approach that lasts into adolescence.
The probability of raised ICP due to restricted
space is higher than in mono-sutural craniosynostosis. Although the brain is also capable of
adopting elevated ICP in syndromal craniosynostosis, clinical symptoms are more likely.
However, the reason for headaches might lie
not only in the craniosynostosis, but also in progressive hydrocephalus [25]. Therefore, we have
added a specic subitem on “dilated ventricles”
below, which highlights the need for close ophthalmoscopic surveillance and also for close clinical follow-ups. These follow-ups should occur at
least every 1–2years depending on the individual
situation as well as on the underlying syndrome.
In our centre, this follow-up standard is based on
clinical follow-up, ophthalmoscopic surveillance
and plain skull radiographs in lateral projection.
Clinical Follow-Up
The clinical follow-up in syndromic craniosynostosis begins immediately. After the initial period
focusing on these early adaptive disorders, distinct clinical problems call for an interdisciplin-
4 Treatment Principles inCraniosynostosis
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51
ary companionship. The interdisciplinary
approach to such patients should also include
regular neuropediatric screening [26, 27].
Similar considerations should be made for
physiotherapy, speech therapy or occupational
therapy, if needed [28, 29].
In syndromic craniosynostosis, we are often
confronted not only with multiple sutures that
fuse too early, but also with intracranial abnormalities, orbitostenosis, midface hypoplasia or
other syndrome-specic abnormalities that
require special attention (as indicated above).
Specic aspects of concomitant malformations
(e.g. cleft repair or surgical functional reconstruction of the hands and feet) are discussed in
separate sections below.
Impaired sleeping architecture—especially
the lack of sufcient REM periods—causes
severe problems (as mentioned above). Sleep
laboratory examination should therefore be kept
in mind and should also be part of a regular diagnostic scheme. In our centre, we have found
insufcient results from sleep labs of only one
night and therefore recommend at least two
nights in order for helpful statements on the quality of the sleep architecture to be made.
Consequently, ENT surveillance is also part of
our regular follow-up. Restricted space that
includes the skull base explains the tendency of
recurrent tympanic cavity effusions. The indication for tympanic tubes should be set generously
in these cases as impaired hearing inuences an
individual’s capacity for understanding and their
subsequent normal language development.
Generous indication for tonsillotomy or adenotomy should therefore also be part of the treatment strategy.
Craniostenosis is of major concern in the rst
years of life and requires follow-up in patients
until 12years of life. The problem of orbitostenosis with possible decient lid closure is easy to
detect, although problems of disturbed eye movements are challenging and therefore need specic
ophthalmoscopic care.
Ophthalmoscopic Surveillance
A distinct feature of many syndromic craniosynostoses is an orbitostenosis with a normal-sized
eye bulb in a at/shallow bony orbit. This can
even lead to prolapse of the eye bulbs under
increased strain, such as crying, which might
even call for early surgical therapy, such as tarsorrhaphy, advancement or distraction of the
forehead and/or midface, or even combined
monobloc advancement. These methods are further described in the specic surgical sections of
this monograph.
Incomplete lid closure poses a risk of corneal
damage and subsequent blindness, which highlights the need for early and close cooperation and
surveillance by experienced ophthalmologists.
Although papilledema usually represents a
late and inconsistent sign of elevated ICP, it is a
valuable instrument for regular follow-up.
Papilledema can be performed regularly and with
minimal technical effort, and it is usually available at every ophthalmologist. That is why it can
be performed twice a year close to the home of
the patient and the patient’s family. Moreover,
possible ocular motility disorders need regular
support and possible surgical treatment.
Imaging Controls
Although ultrasounds can be used to acquire
information during the rst months of life, the
instrument soon loses importance due to early
skull closure as well as physiological closure of
the fontanelles.
We have shown that plain skull radiographs
are helpful in detecting suture status, in depicting
emissary veins and in excluding convolutional
markings as signs of elevated ICP. This makes
plain skull radiographs in AP and lateral projection a valuable imaging modality in syndromic
craniosynostosis, as well.
As we are confronted with possible intracranial abnormalities, such as hypoplasia of the corpus callosum or tonsillar herniation in syndromic
craniosynostosis, a primary MRI that includes an
MR angiography is mandatory, as shown under
diagnostics. In situations that are conspicuous of
elevated intracranial pressure, progressive hydrocephalus (and even shunt failure) or tonsillar herniation, an MRI is useful for detecting a possible
pathology without any radiation exposure.
However, drawbacks lie in the need for sedation
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