Lecture Craniofacial Limoudei Hemsech

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Lecture Congenital
Craniofacial Pathologies
2001 ילוי ךשמה ידומיל
Radial club
Oren Lapid MD
'ב
בלש הניחבה יאשונ
ינושאר רוקמ אלל תיטטסטמ המונלמ
לש היצקיפיסלק םיידיה לש םידלומ םימומ
. לדוגא לש היליטקדילופ ו hand
. Ravitch
סאידפסיפא רוזחש
תקינכט יפל םוטווקסקא סוטקפ רוזחש
ןיישקסופיל ל תוסימת לש ימיכ בכרה

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Craniofacial surgery
• Plastic surgery of the cephalic extremity
– skull, face, Orbit
– Congenital
– Post traumatic
– Tumors
Craniosynostosis:
• A general term encompassing a variety of
developmental disorders characterized by
inadequate capacity of the cranium to
accommodate the growing brain, which
results in compensatory deformities. (Less
accurate for the minor forms where there is
deformity with out problems of capacity)

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Simple: involves the cranial sutures,
although there often is an extension into
the base of the skull.
Syndromatic: involves also the face with
possible involvement of the limbs.
Impact
Aesthetic disfigurement
Functional disorders: Increased ICP,
hydrocephalus, visual impairment.

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Epidemiology
• Detecteble abnormalities due to
craniosynostosis are seen in
1:1700-1900 births.
• Most common types
• Sagital schaphocephaly
• Metopic trignocephaly
• Unilateral coronal Plagiocephaly
1:10,000
• Bilateral coronal Brachicephaly
Pathogenesis mechanisms to
be completed

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ICP
• Increased ICP is seen in cases of
craniosynostosis more in cases where
several sutures are involved.
• Surgery decreases ICP.
• A small skull doesn’t imply ICP elevation but
ICP elevations usually seen in small skulls.
Not all authors agree.
• Signs of increased ICP
• Papiledema, headaches, vomiting, lethargy,
anorexia, beaten silver appearance on X-ray.

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Hydrocephalus
• Hydrocephalus
• Rare, seen more in the syndromatic
cases.
• Enlarged ventricles may be seen as part
of the syndrome as in Apert’s. Changes
in ventricle size are more accurate for
diagnosis.
Mental retardation
• It is not clear how many of these children
really have mental retardation. It is not clear if
it is related to the problem or independent
• Some just look retarded - environmental
influences.
• In children with non syndromatic
craniosynostosis there was no increase in IQ
after surgery. Other studies claim there was
an improvmentt.

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Visual abnormalities
• Optic atrophy and papilledema,
stretching of optic nerve, pressure on
the nerve. Damage from increased ICP.
Morphology

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Acrocephaly ( also tower skull or
oxycephaly of Virchow)
Cranium in which the anterior part is
higher than the posterior part, slanting
in a front to back direction.

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Brachycephaly
AP shortening, forehead and suprorbital
bar are retropositioned.
Results from bi-coronal stenosis. Typical
of Apert’s and Crouzon.
Oxycephaly
Extreme upward growth with loss of AP &
Lat diameters. Obtuse or absent
nasofrontal angle. Usually a result of
closure of the coronal suture.

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Turricephaly
Exaggerated upward growth caused by
frontoparietal suture closure. Seen in
Apert’s
Scaphocephaly
Hull shaped cranium,reduced width with
increased length, seen with premature
sagital suture closure. The most
common type. M:F 4:1

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Trigonocephaly
Narrow and sharp forehead caused by
premature closure of
metopic suture. May be accompanied by
hypotelorism.
Clover leaf (Kleebattscaädel)
Multiple sutural fusions, constriction ring
in the lamboid-squamosal zone bulging
of frontal and temporal lobes

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Plagiocephaly
• Cranial asymmetry (various sutures)
Plagiocephaly
• Frontal
– Ipsilateral coronal and frontosphenoidal sutures, flat
forehead, backward displacement of orbit, bulging of
contarlateral parietal area. Mandibular
asymmetry.”harlequin” orbit.
• Occipital
– Flattening Lamboid suture must be distinguished from
positional plagiocephaly.

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Plagiocephaly
•Positional caused by extrinsic
forces
•Positional plagiocephaly does not
require surgical treatment.
Plagiocephaly

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Syndromes:
• Different sutures may be involved in
different patients with the same
syndrome.
• The difference may be in other parts of
body.
• Mental retardation found to some extent
in all syndromes.

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Crouzon (Craniofacial
dysostosis)
(Acrocephalosyndactyly, type
II)
• 1:25,000
• Autosomal dominant (Most cases sporadic)
Chromosome 10
• Craniosynostosis, midfacial hypoplasia,
exopthalmos.
Crouzon cont
• Various dformations of skull- usually brachy.
• Midfacial retrusion – class III bite and shallow
orbits. May cause damage to eyes. Beaked
nose, High arched palate
• Conductive hearing loss is common.
• Synostosis develops during 1 st year of life
usually complete by 3 rd .
• Increased ICP common.

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Apert
(Acrocephalosyndactyly,
type I)
• 1:160,000
• Autosomal dominant (Most cases sporadic)
• High cranial vault, flat posteriorly while
bulging in the front. Brachycephalic,
Turribracephalic.
• Syndactyly of all four extremities- symmetrical
middle three digits or more.

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Apert cont
• Mild telorbitism, midfacial retrusion,
deficient maxilla, abnormal dentition,
Cleft palate 11-30%, low hair line,
hypertrichosis of the eye brows, ptosis
(mainly lateral), well developed
protruding tongue.
• Mental reardation seen in most.

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Pfeiffer
(Acrocephalosyndactyly,
type V)
• Autosomal dominant (Most cases sporadic)
Chromosome 8
• Brachy-turricephalic, broad thumbs and great
toes, occasional minor syndactyly,maxillary
retrusion, possible high arched palate and
submucous cleft.
• Intelligence normal to mild mental retardation.

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Sathre-Chotzen
(Acrocephalosyndactyly,
type III)
• Autosomal dominant (Most cases sporadic)
chromosome 7
• Brachycephalic cranium, various degrees of
craniosynostosis, facial asymmetry, shallow
orbits, telecantus, nasal septal deviation, low
hair line minor syndactyly. Maxillary
hypoplasia.
• Intelligence normal to mild mental retardation.

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Carpenter
• Autosomal recesive (Most cases sporadic)
• Various cranial malformations, flat nasal
canthi, dystrophic orbits, (possible anomalies
of globe), low set ears
• Hand (obligatory, syndactyly, brachydactyly,
polydactyly)
• Obesity, hypogonadism.
• Mental retardation.
Clefts
• Major facial clefts 1.5-4.5/100,000 (CL
CLP 1:750-1000)
• Various degrees of such defects.

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Classification of Tessier
• The orbit is the point of reference as it
belongs both to cranial and facial clefts.
• Counter clockwise, South to North
• There may be both north and south
components
• Clefts always have hypoplasia (which may be
minimal)
• Pictures clefts 0-14

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Cleft 0-14 Cleft 1-13 bilateral
Cleft 3 Cleft 4
Cleft 5 bilateral
Cleft 10
Cleft 6 bilateral

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Clasification of Van der
Mulen
• The facial skeleton develops along an
“S”
• Focal fetal dysplasia,

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Telorbitism-Hypertelorism
• Distance between
anterior lacrimal
crests
• Men 19.5-
30.7 (28) mm
• Women 18.5-29.5
(25) mm
• 1 0 30-35 mm
• 2 0 35-39 mm
• 3 0 >40 mm
Telorbitism-Hypertelorism
• Up to 40 mm no problem
• Tessier claims it is secondary to clefts or
craniostenosis while Van-der-Mulen attributes
it to arrest during 5 th -8 th weeks of
embryogenesis.
• Repair is undertaken to try and restore
binocular vision and to improve the esthetic
results.

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Frontoethmoidal
Encephalomeningoceles
• Failure of closure of the neural tube with
herniation of CNS tissues from the
forehead until the sacrum.
• Nasofrontal, Naasoethmoidal and
Nasoorbital
• Rare seen mostly in Far East in
Thailand 1:6000
• Clefts 0,14, 1,13
Oculomotor disturbances in
craniofacial malformation.
• Abnormal vectors of extraocular
muscles or absence of muscles.
• Altered intraocular distance and angle
• Involvement of cranial nerves

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Laterofacial Microsomias
• Represent groups of clefts 6,7,8
Treacher Collins Complex
(Franceschetti-Zwahlen-
Klein Mandibulofacial
dysostosis)
• 1:25,000-50,000
• Autosomal dominant. Chromosome 5
• Variable penetration

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Treacher Collins
• Bilateral and symetric
• Convex profile, prominent nasal dorsum
over a retrusive jaw and chin. Typical
eyes, toungue shaped sideburns.
Maldeveloped ears.
• Complete form absence of the malar
bone and the zygomatic arch.

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Treacher Collins
• EYES
– Eye
• Strabismus, amblyopia
• Lower eyelid
Notch between lateral and
middle third, absent eye lashes
– Upper eyelid Microform coloboma
– Eyebrow Notch
– Lacrimal Absence of lower punctum
– Lateral CantusNo insertion, free, small
palpabrale fissure.
– Orbit Open laterally because of the
absent structures. The
orbital floor is inclined
outwards 45 0 .
• Nose
– Narrow, deviated, hooked, possible cohanal atresia.
• Cheek
– Sclerodermic furrow from the lower eye lid notch to the mandibular angle.
• Oral comissure
– Frequently macromastia
• Alveola Palate
– Narrow dental arch, high palate,
• Maxilla& sinus
– Under developed and small
• Temporalis
– The muscle is usually atrophic the masseter is not absent.
• TMJ
– Frequently hypoplastic
• Mandible
– Short ascending ramus. Lower body is hyoplastic.
• Chin
– Retrusion and increase in height.
• Ear
– Microtia and Cryptotia, Middle ear abnormalities
• Cleft palate
– May be present

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Nager syndrome (Acrofacial
Dysostosis)
• Similar to Treacher Collins but rarer
• Autosomal recesive
Binder’s Syndrome
(Maxillonasal Dysplasia)
• Short nose with flat bridge short
columella

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Pierre Robin Sequence
• Retrognathia, glosoptosis, airway obstruction.
Cleft of soft and occasionally hard palate
seen in 50%.
• Etiology- late straightening of the fetus or late
descent of the tongue.
• Children have FTT de to difficulty breathing
and feeding. Vicious cycle
• Treatment- prone position, tongue adhesion.
Hemifacial microsomia
First and second branchiall
arch syndrome
Otomandibular dystosis
Craniofacial microsomia
Lateral facial dysplasia
Otomandibular syndrome

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Hemifacial microsomia
• No genetic background 1:3500-5600 births
• Unilateral microtia, macrostomia, and failure of
formation of the mandibular ramus and condyle.
• Orbit, zygoma, temporal bone, maxilla and nose may
be involved.
• The defect may seem minor at birth but progresses
with growth.
• Soft tissue deficits range from normal to major
deficiency of sub cutaneous tissue and muscle, the
parotid may also be affected.
• CNS Abnormalities: agenesis the corpus callosum,
hydrocephalus, cranial nerve anomalies facial palsy)
• Tongue depressor test.
Pruzansky’s clasification by
grades
I Minimal hypoplasia
II Deformed TMJ, distortion of
condyle, ramusand sigmoid notch.
•III complete absence of the ramus
and glenoid fossa, the mandibular
body ends in the molar area.

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Goldenhar Syndrome
• Similar to Treacher Collins
• Asymetrical skull, prominent frontal
bossing, low hair line, mandibular
hypoplasia, low set ears, colobomas of
upper eyelids, epibulbar dermoids,
accessory ear lobes, vertebral
anomalies and a change in the clefting
pattern.

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Romberg’s disease
(Progresive facial
hemiatrophy)
• First or second decade of life. F:M 1.5:1
• Unilateral in 95% of cases
Etiology?
• Infection, scleroderma,cervical
sympathetic loss.
• Progresive hemifacial atrophy of skin,
soft tissue and bone.
• Coup de sabre sign in 50%.

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Reconstruction
• Reconstruction is under taken at least a
year after the disease is static.
• Reconstruction by soft tissue flaps and
grafts and bone. Fat injection is also an
option.
Surgical repair

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Pre operative evaluation
• History
– Family, pregnancy..
• Physical
– Observation, palpation of sutures,
fontanels, neurological exam.
• Other abnormalities
– search for other abnormalities
Pre operative evaluation
• Imaging
– X-ray (including C-spine)
– Cephalometris
– CT 3DCT
– MRI
• Imaging has a major importance in the
management of these cases with the
possibility of performing mock surgery

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Timing of surgery
• The consensus is before one year.
• Earlier
– Better growth, early relief of ICP.
• Later
– Child stands surgery better, nearer to adult
size.
• Facial osteotomies
– are performed at a later age.
Principles of craniofacial
surgery
• Work is on a dynamic structure
Surgery is performed on a growing skull,
growth can alter the results and at the same
time may change the growth patterns.
• Patients positioned according to the operative
plan and area.
• Wide dissection of affected areas, Bicoronal
incisions.
• Combined intra and extracranial approaches.

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• Extensive use of bone grafts
• Bone grafts, free flaps, Distraction
osteogenesis.
• Strip craniotomies.
• Total craniectomy (abandoned)
• Dead space is replaced by brain growth.
• Elevation of scalp flaps and then periostal
flaps.
• Via burr holes the dura is separated from the
skull.
• Starting at the burr holes the bones are
sawed in-situ and also shaped and modified
outside the patient.
• The older the child the more brittle the bones
– less easy to work.
• Methods of fixation. Wires, plates, sutures.
• Absorbable vs. permanent plates, Plate
migration.

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Correction of simple sutural
synostosis
• Aim: correct functional and esthetic
deficits
• Strip craniotomies
– Not suficent for an esthablished deformity
but may be used in infancy, Bone growth
and regeneration fill the defects.
Correction of simple sutural
synostosis
• Plagiocephaly
– Frontoorbital remodeling
• Brachycephaly
– Frontoorbital remodeling
– The orbital bar is remodeled and repositioned in
an appropriate location
• Metopic
– Deformed frontal bone Remodeled or
replaced by parietal bone

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Correction of syndromatic
sutural synostosis
• Advancement of forehead and midface
with monoblock frontal osteotomy.
• Le fort osteotomies.
• Facial bipartition for telorbitism.
• Mid face deformities
• Le Fort III, Le Fort III+I, Monoblock
advancment

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Le Fort III
Facial
Bipartition

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Forehead Advancement
Forehead Advancement Floating

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Forehead Advancement

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Forehead Advancement for Trigonocephaly

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Correction of Laterofacial
Microsomias
• Dental- orthodontic treatment can improve
results and direct growth.
• Distraction osteogenesis
• Mandibular osteotomies
• Bone grafts transfers for reconstruction of the
mandibular ramus TMJ
• Onlay bone grafts for contour restoration.
Complications
• Death 1.5-2%
• Hemorhagic complications. There is
significantand continous blood loss in
these operations. Replacment required
• Air emboli.

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Complications
• Infection of soft tissues and bones more when
there is a communication of bone with the
respiratory system. Related to the length of
surgery. Prophylactic antibiotics are given.
• Infection (meningitis)
• CSF leak
• Ophthalmic complications- blindness.
• Cerebral edema
• Respiratory obstruction
• Sagital sinus thrombosis
• Seizures
Thanks
When will you fix me ?