Primary objective:To determine the most optimal technique and timing of surgery for correction of peri-orbital osseous deformities (hypertelorism, vertical orbital dystopia, and/or midface hypoplasia) for each specific condition (1. syndromic…
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Peri-orbital functions
- Visual acuity: the visual acuity (logMAR-chart) and visual field is assessed;
the performed tests are age-dependent.
- Ocular motility: An orthoptist will assess movement with specific attention
for A and V patterns in the nine positions of gaze in a standardized way.
Causes of strabismus will be evaluated.
- Closure and position of eyelids: the presence of lagophtalmus, exorbitism,
enophtalmus, ectropion, entropion, downward slanting, or scleral show, dystopia
of the medial and lateral canthi, and the presence of epicanthus will be
assessed.
- Functioning of the lacrimal system/adnexen.
Peri-orbital esthetic appearance
- Overall appearance: This will be assessed with the Versnel scoring list based
on standardized photographs.
- Hypertelorism: The interdacryon distance will be analyzed on CT or CBCT. In
addition intra-operative measurements of the interdacryon distance in the
patient will be performed before and after correction by the surgeon with a
ruler.
At the level of soft tissue, hypertelorism will be studied on the (3D-)
photographs. Intercanthal and interocular distances, and horizontal axis of the
eye will be measured.
- Vertical orbital dystopia: Vertical position of the orbits/ orbital floor
will be analysed on CT/CBCT (bone) and (3D-)photographs (soft tissue).
- Midface hypoplasia: The advancement of the midface due to surgery or growth,
will be studied on cephalometry calculating SNA. On lateral photographs facial
divergence will be analyzed drawing a line from the glabella to the upperlip,
to the vertex of the soft-tissue chin.
- Additional peri-orbital deformities will be assessed on standardized
photographs according to the Versnel score.
Movements of the soft tissue and bone structures will be measured on pre- and
postoperative CT/CBCT in millimetres.
Relapse and growth. Relapse will be evaluated in the operated patients. Growth
will be analyzed using X-ray and photographs at 0, 4, 9 and 18 years old.
Secondary outcome
Postoperative satisfaction of the surgeons will be analysed using a panel.
Photographs pre-operatively, 1 year postoperatively and at the age of 18-21
years will be analysed. Surgeons will score surgical outcomes using a VAS. With
the VAS hypertelorism, vertical orbital dystopia and midface hypoplasia, the
overall appearance, the frontal, orbital, nose and midface region will be
judged.
Postoperative satisfaction of the patients/parents will be analyzed. Using a
patient related expectation measurements (PREM) pre-operative expectations are
investigated. Using a patient related outcome measurements (PROM)
post-operative satisfaction is investigated. Children will be asked questions
on teasing.
When the patient is younger than 12 years old, or mentally retarded, parents
will fill in the questionnaire. When the patient is capable of completing the
questionnaires we request the patient to fill in the questionnaires
himself/herself.
For measurement of the facial/peri-orbital proportions of patients with
syndromal craniosynostosis (Crouzon, Apert) and CFNS without hypertelorism
(Control population I), distances on photographs will be measured using
Photoshop (2D photographs) or Maxilim (3D-photographs). From a frontal view the
midface is divided in 5 regions: the interocular distance, the ocular expanses
and the distances between the lateral canthus to the medial part of ear.
We will evaluate the osseous proportions with CT/CBCT. Analysis will be done in
Maxilim (CT, CBCT) and outcome will be described in millimetres and/or ratios.
This will be done in Control population I (if these are available) and II. With
this method, the height and width of the orbit will be measured, and the
interdacryon distance determined in millimetres. All these measurements have
been performed in Study population I and IIA pre-operatively and
postoperatively. Then comparison with aged matched controls with syndromal
craniosynostosis (Crouzon, Apert) and CFNS without hypertelorism (Control
population I) and with healthy peers (Control population II) can be done.
Background summary
Congenital craniofacial malformations are rare and cover a wide range of inborn
anomalies of the skull and face. These deformities of osseous structures can
cause both functional and esthetic problems that require surgical correction.
This is certainly the case in deformities of the osseous structures in the
peri-orbital zone, since visual functions and appearance of one of the most
prominent facial features can be impaired. Peri-orbital osseous deformities
occur in multiple congenital craniofacial disorders including 1. syndromic
craniosynostosis, 2. midline facial clefts, 3. oblique facial clefts (uni- or
bilateral), and 4. frontofacial (meningo-) encephaloceles. Major features of
these disorders are hypertelorism, defined as an increased distance between the
orbits; vertical (orbital) dystopia, meaning a discrepancy in the vertical
position of both orbits; with or without midface hypoplasia, in which both the
bones and soft tissues in the mid-portion of the face are underdeveloped in
three dimensions. They all influence the position of the eye and the eyelids.
The consequences of these features are inability to develop binocular sight,
diplopia in all or parts of the visual field, incomplete closure of the eyelids
and exposure keratitis. Patients with midface hypoplasia might also have a
compromised airway with obstructive sleep apnea (OSA) and malocclusion. Next to
these functional deficits there is also the aspect of looking different, with
all its psychosocial impact.
Depending on the deformity and the anatomical structures involved, surgical
techniques to correct the deformities include orbital box osteotomy, facial
bipartition, monobloc advancement, and the several Le Fort procedures. However,
the choice for the type of surgery and, particularly, timing of the surgical
correction to achieve ideal facial proportions in relation to optimal function
(eg. vision, intra-cranial pressure, occlusion, breathing) and growth remains
controversial. These congenital deformities go hand in hand with a reduced
growth potential of the affected areas, and following surgery growth potential
might diminish as well. This means that a good result of an early intervention
can deteriorate into a poor outcome over time.
Therefore, in this study the main objectives are better understanding of the
effects of the various types of surgery, in relation to natural (restricted)
growth in various pathologies. Normal growth in the normal population will be
analyzed. This will aid in the decision making for the optimal type and timing
of surgery for specific conditions. Improvement of the individualized
management of patients with the different pathologies is our goal.
Study objective
Primary objective:
To determine the most optimal technique and timing of surgery for correction of
peri-orbital osseous deformities (hypertelorism, vertical orbital dystopia,
and/or midface hypoplasia) for each specific condition (1. syndromic
craniosynostosis, 2. midline facial clefts, 3. oblique facial clefts, and 4.
frontofacial (meningo-)encephalocele). To achieve this goal we will:
a. Assess the functional and esthetic outcome and growth patterns in the
peri-orbital region before and after correction, and relate this to technique
and timing of surgery.
b. Compare these results with the results of patients suffering from the same
condition that have not (yet) been operated for their peri-orbital osseous
deformities, and a normal age-matched population without craniofacial
malformations.
Secondary objectives:
2a. To determine expectations of surgery and satisfaction with results:
i. In surgeons: evaluate what they aim for as facial proportions of the upper
face in each pathology, and assess whether they are satisfied with the results.
ii. In patients and parents: evaluate what their expectations are
pre-operatively, and
what their satisfaction is postoperatively. In addition psychological
evaluation is performed.
2b. To determine what facial/orbital proportions the surgeon should aim for in
the correction of hypertelorism in patients with syndromal craniosynostosis
(Crouzon, Apert) and craniofrontonasal syndrome (CFNS):
Assess whether facial/peri-orbital proportions of patients with syndromal
craniosynostosis (Crouzon, Apert) and CFNS operated for hypertelorism, resemble
proportions of syndromal craniosynostosis patients without hypertelorism
(Crouzon, Apert), and CFNS and proportions of the normal population.
Study design
This study can be categorised as an observational longitudinal study (according
to the CCMO guidelines). The study uses a combination of a retrospective and
prospective case-control and cross-sectional study design. Usually patients are
followed until they reach the age of 21 years. The first evaluation of the
prospective study will occur after 3 years.
Study burden and risks
Regular care for these patients is carried out following an extended protocol.
To investigate the objectives, the examinations we want to add to the existing
protocol are two (3D-)photograph, and four questionnaires. We expect no
associated risk. There will be no immediate benefit for the patient, but it
will gain more insight in these pathologies and in the future this will lead to
better patient care.
's Gravendijkwal 230
Rotterdam 3015 CE
NL
's Gravendijkwal 230
Rotterdam 3015 CE
NL
Listed location countries
Age
Inclusion criteria
Patients suffering from 1. syndromic craniosynostosis, 2. midline facial clefts, 3. oblique facial clefts (uni- or bilateral), and 4. frontofacial (meningo-) encephaloceles.
Exclusion criteria
Patients are excluded if surgical correction was performed elsewhere or if data are incomplete, if patients in the Control group had peri-orbital surgical correction. Patients and parents do not speak the native Dutch language or are mentally retarded, will be excluded from the questionnaires.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL54142.078.15 |