knowing the causing and associated risk factor of cleft lip and palate is crucial for policy makers and prevention. classification is important for how to manage it for oral and maxillofacial surgery.
3. Developmental Biology and Morphogenesis
of the Face, Lip and Palate
The “history of man for the nine months
preceding his birth would, probably, be far
more interesting and contain events of
greater moment than all the three score and
ten years that follow it.”
Samuel Taylor
4. Introduction
Complete or partial interruptions of any one or
combination of these phenomena have been
implicated in the identification of etiologic and
pathogenic causes of birth defects.
• Patterns of early DNA signaling,
• gene and biochemical organizers,
• nuclear and cellular differentiation,proliferation,
migration, and importantly, patterns of
interactive at intracellular, cell surface, and
extracellular matrix levels.
5/28/2018 4
5. • When the embryo’s cephalo-caudal axis is
established at about 14 postconception days,
the facial developmental field appear .
• Centrally- oropharyngeal membrane, whose
structure and location marks the junction
between the oral ectoderm and the
endodermal digestive tube.
6. • The pharyngeal arches contribute significantly
to the formation of the face, palate, and
associated structures.
• Most congenital malformations of the head
and neck have their beginnings during the
cellular transformation of the pharyngeal
arches into their adult derivatives
7. • The first pharyngeal arch, often called the
mandibular arch give rise to - malleus and
incus middle ear ossicles, lip, teeth, maxilla,
zygomatic bone, and squamous portions of
the temporal bone.
8. • The second pharyngeal arch ( the hyoid arch)
contributes significantly to the formation of
the hyoid bone and one of the three middle
ear ossicles, called the stapes.
9. • At 7–8 weeks when the embryonic palatal
shelves are show critical stages of elevation
and closure, an important shift occurs in the
primary blood supply to the face and palatal
tissues from the internal carotid to the
external carotid arterial system
10. • This transition involves a temporary vascular
shunt between internal and external carotid
systems provided by the stapedial artery.
• Failure of either the stapedial artery to form
or failure of a complete and timely transition
to occur has been hypothesized in identifying
the pathogenesis of palatal clefting and
mandibulofacial dysostosis
11. “Developmental Critical Period”
• which spans the 5th - 7th intrauterine weeks.
• It is that time period during which in human
craniofacial morphogenesis generally is most
susceptible to either known or suspected birth
defect-producing agents, or teratogens
(eg.cortisone and retinoic acid)
12. facial prominences, or
primordia,
• single median
frontonasal prominence,
• paired maxillary
prominences on either
side of the frontonasal
process,
• two mandibular
prominences beneath the
oral opening
5/28/2018 12
13. • lateral nasal process forms
the ala of the nose,
• medial nasal process
contributes to the
formation of the nose tip,
columella, the philtrum,
tuberculum, and frenulum
of the upper lip, and the
entire primary palate.
• By the end of the 6th week,
each maxillary prominence
blends, or merges,with the
lateral nasal prominence
along a line
5/28/2018 13
15. • Between the 4-8 weeks,
• the medial nasal
prominences merge
with each other, lateral
nasal prominences and
maxillary prominence
• This subsurface merging
of cells, results in the
continuity of upper jaw
and lip
5/28/2018 15
16. • The completion of the embryonic lips
generally occurs about 1week earlier that the
formation of the palate.
• Thus, the lips and palate have different
“developmental critical periods” and, as such
teratogens might affect either the lips or
palate separately, or in combination.
17. • The “developmental critical period” for the
palate is from 6th-8th intrauterine week, or 1
week longer in duration than that of the lip.
• These palatine shelves first grow medially,
then become oriented inferolaterally to lie on
either side of the tongue, which is quite
precocious in its own development as a
muscle-filled epithelial sac that fills much of
the oronasal cavity.
19. • Once the shelves make contact, there is a
degeneration (i.e., apoptosis or programmed
cell death) of epithelial cells along the
abutting shelf linings, and a directed
movement of crest-derived mesenchymal cells
from one shelf to the other.
• It is called fusion.
• Failure is mostly linked to TGF-Beta-3 growth
factor family
20. Coronal section of the developing palate. NC—Nasal cavity, NS—Nasal septum,
P—Palate, OC—Oral cavity, T—Tongue, PS—Palatal shelf
22. Epidemiology
• The second most common congenital anomaly
• Affects 1in 750 births
• The incidence of cleft lip/palate varies among different
populations
• The most common in asians (1:500)
• In whites (1:750)
• The lowest in blacks (1:1000 or less)
• Cleft lip more often in boys (left side)
• Isolated cleft palate more often in girls
23. Epidemiology
• Unilateral or bilateral
• Complet or incomplet
• Only cleft lip, cleft lip and palate or isolated cleft
palate
• Distribution (Fogh-Anderson, 1942)
• Cleft Lip % 25
• Cleft and palate %50
• Cleft palate % 25
24. CLP Epidemiology in Ethiopia
• In Ethiopia, addis ababa
– Study from sept. 2004 to feb. 2007 involving
42,986 live births(seven health institution)
• Incidence 1.49 per 1000 live births (1 in 672 live births)
• F:M ratio
– 1 to 0.6 for cleft lip
– 1 to 1.8 for CLP
– 1 to 0.5 in isolated CP
• Family hx in 4.8% of the clefts
• Associated anomalies in 15.6% of the clefts
26. ,
• First child has anomaly
• Probability of second child 4%
• Probability of third child 10%
• Two childern have anomaly
• Probability of third child 20%
• Mother or Father has
anomaly
• Probability of first child 5%
• Both mother and father
have anomaly
• Probability of first child 25%
5/28/2018 26
27. Environmental Influence
• Viral infections
• Exposure to radiation
• Influence of drugs—excessive use of antibiotics, steroids, and
insulin (it is a potent teratogenic agent) and antiepileptic drugs.
• Deficiency of vitamins A and B
• Anemia
• Anorexia
• Stress
• Excessive consumption of alcohol
• Excessive tobacco chewing and smoking
• Maternal age—older the mother, greater the chance of incidence
of congenital anomalies, since there is a greater chance of a
defective zygote.
28. • Recently multiple genes have been implicated in the
etiology of clefting.
• Some of these genes include
• the MSX, LHX, goosecoid, and DLX genes.
Additional disturbances in growth factors or their receptors
that may be involved in the failure of fusion include
• fibroblast growth factor,
• transforming growth factor-β,
• platelet-derived growth factor, and
• Epidermal growth factor
29. • Genetic abnormalities can result in syndromes
that include clefts of the primary or secondary
palates
– More than 40% of isolated cleft palates are part of
malformation syndromes, compared to less than 15%
of cleft lip and palate cases
– Microdeletions of chromosome 22q resulting in
Velocardiofacial, DiGeorge, or Conotruncal anomaly
syndromes are the most common diagnoses
associated with isolated cleft palate
– The most common syndrome associated with CLP is
Van Der Woude syndrome
34. • In complete clefts of the lip and palate, if the
lateral palatal cleft segments are detached
from the vomer, they will be pulled laterally by
the external aberrant lip-cheek muscular
forces, as well as spread apart by the tongue
pushing into the cleft space.
38. Surface landmarks
A. Alar cartilage
prominences
B. Nasal columella
C. Nasal sill
D. Alar base
E. Philtral dimple
F. Philtral column
G. White roll
H. Philtral tubercle
I. Cupid’s bow
J. Commissure
42. • Unilateral Complete Cleft
Lip
– characterized by disruption
of the lip, nostril sill, and
alveolus (complete
primary palate)
– no Simonart band
connecting the alar base to
the footplates of the lower
lateral cartilages of the
nose
– collapse of the lower
lateral cartilage framework
and an associated
increased nasal deformity
5/28/2018 42
44. .
• Complete Bilateral Cleft Lip
– The most obvious aspect is
the protruding premaxilla
• Because of the lack of
connection of the premaxilla
with the lateral palatal
shelves, the premaxilla has not
been “reined back” into
alignment
– The anterior nasal spine is
poorly formed or absent in
the bilateral cleft lip
deformity
• Broad and flat nasal tip
• “absent columella”
5/28/2018 44
45. • The most anterior and
inferior extent of the
frontonasal process, which
normally contributes to the
skin between the philtral
columns of the lip, forms a
wide, short disk called a
prolabium, that appears to
hang directly from the nasal
tip skin
5/28/2018 45
46. Categories of Clefts
• Depending on the elemental
characteristics of the
embryology,anatomy, and physiology
of the cleft defect
(1) those involving the lip and alveolus;
(2) those involving the lip and palate;
(3) those in which the palate alone is
affected;
(4) congenital insufficiency of the palate.
The term “palate”will include both the
hard palate and the velum, or soft
palate
47. Classification
• Based on alveolar arcus
(Davies- Ritchie 1922)
• Prealveolar (cleft lip)
• Postalveolar (cleft palate)
• Transalveolar (cleft lip and palate)
• Based on embryologic development
(Kernehan-Stark 1958)
• Primary cleft palate (anterior to incisive foramen)
• Secondary cleft palate (posterior to incisive foramen)
49. Classification of the clefts
• Veau
• Kernahan reported the Y classification
• modified Y classification
• letter codes.
5/28/2018 49
50. Classification
Veau:
• group 1, cleft of the soft palate only
• group 2, cleft of soft and hard palate
• group 3, unilateral cleft lip and palate
• group 4, bilateral cleft lip and palate.
• This simple classification has ignored the clefts of
primary palate only and failed to separate the
incomplete from the complete clefts of lip and
palate.
5/28/2018 50
52. Classification cont…
• The limitation of the Kernahan Y classification is that
clefts of the secondary palate cannot be classified into
right or left sides.
• The Y classification was modified into a better numeric
system that allows a more accurate recording of all left
or right clefts of the primary and secondary palate and
is easily adapted to the computer.
• In the modified Y classification, each right or left limb
is assigned a number, 1–5 or 11–15, for the primary
palate and 6–9 or 16–19, for the secondary palate,
with 10 being a submucous cleft palate
5/28/2018 52
54. Classification
• Letter coding system:
• The first letter is the side of cleft (R, right; L, left),
the second letter is the location of the cleft (P,
primary palate; S, secondary palate posterior to
incisive foramen), and the third letter represents
the degree of cleft (C, complete; I, incomplete).
• This classification is simpler for communication
and sorting compared with the modified Y, but is
not as accurate.
5/28/2018 54
55. Letter coding system:
Eg:
• RPC, right primary complete;
• LPC, left primary complete
• RPI, right primary incomplete
• LPI, left primary incomplete
• RSC, right secondary complete
• LSC, left secondary complete
• RSI, right secondary incomplete;
• LSI, left secondary incomplete.
5/28/2018 55
56.
57. Anatomic variations in cleft patients
• The orbicularis oris muscles are abnormally
inserted to the ala and the columella
• There is no OO muscle in the prolabium of
bilateral CL
• The columella and the LLC are disoriented
• The premaxilla is protruded in bilateral CL
5/28/2018 57
60. 5/28/2018 60
Child with BCLP managed by nasoalveolar molding before surgical lip repair.
Prominent premaxilla (A and B) before nasoalveolar molding. Appliance for
nasoalveolar molding (C) and appliance in use (D). E, The position of premaxilla after
nasoalveolar molding.
61. Goals of lip repair
• To reconstitute oral competence and a
dynamic muscular sphincter with the oom
• To achieve cosmetic reconstruction of the lip
appearance
• The focus is on
• 1) correct alignment of cupid’s bow
• 2)symmetric reconstruction of the vermilion
• 3)accurate construction of the philtral column
5/28/2018 61
66. Unilateral Cleft lip
• Two basic techniques are universally in use for
unilateral cleft lip closure: the Tennison-
Randall procedure and the Millard procedure.
• Both techniques recognize the importance of
repositioning the lip muscle (orbicularis oris)
in a correct anatomic orientation that results
in an aesthetic as well as a functional
improvement
5/28/2018 66
68. • The reason is as follows: if the difference is
more than 2-3 mm—like in most complete
clefts—you need to find a way to compensate
because if the lengthening is not properly
realized the operation will end up with vertical
discrepancies in the lip architecture that catch
attention right away.
5/28/2018 68
69. • The Tennison-Randall compensates by
bringing in a triangle of extra tissue.
• The Millard lengthens the lip medial by
straightening a curved incision.
• But laterally the lip is not lengthened.
• The alar base will be positioned too low, or
the Cupid’s bow will be pulled up
5/28/2018 69
73. L a n d m a r k s
Nasal landmarks
• First mark the end of the
medial crus of the lower
lateral cartilage. This
landmark is considered
the columellar base. The
German name for this
landmark is famous:
‘Naseneingangschwelle’.
This is landmark (5) on
the non-cleft side and
landmark (13) on the cleft
side.
5/28/2018 73
74. • Mark the alar bases as
landmarks (4) and (10).
These landmarks are
found at the end of the
light reflection on the
nostrils
5/28/2018 74
75. Vermillion border landmarks
• Landmark (2) is the top of
the Cupid’s bow on the
healthy side and is easy to
locate. Therefore it is
tattooed right away.
• Landmark (3) is the end of
the white roll on the NCS, it
represents the other end of
the Cupid’s bow. Landmark
3 is tattooed as well.
• Landmark (1) is chosen as
the middle of (2) and (3). It
represents the middle of
the Cupid’s bow.
5/28/2018 75
76. • On the lateral or cleft side (CS)
we still need to establish the
peak of the Cupid’s bow. This
is landmark (8) and is the end
of the white roll on the CS.
• The distance between the
commissure on the non-cleft
side and the Cupid’s bow
landmark (6)-(2) is measured
and transferred to the cleft
side.
• Almost universally the
available distance (7)-(8) is
shorter. This gives an idea of
the amount of shortening of
the lip on the CS.
5/28/2018 76
77. • One landmark is marked just
above the white roll (3 and 8) and
one landmark is perpendicular to
the white roll just in the red lip
(3’ and 8’). The distance between
both upper and lower landmarks
is on average 1,5 mm. It is most
important that this little distance
is equal on both sides.
• Suturing these landmarks at the
end of the procedure will create
the new Cupid’s bow top with a
close to normal white roll, in a
continuous mode and without
steps.
5/28/2018 77
78. Skin triangle landmarks
• The distance from landmark (5)
to (2) should finally become the
lip length on the cleft-side too.
Since length (13)-(3) is ‘x’ shorter
than (5)-(2), ‘x’ must be added to
establish equal length. We bring
this in as a triangular skin flap
from the cleft side with a base of
‘x’.
• This triangular skin flap, after
incision, will be brought in via a
deep incision from (3) to (12’),
thus splitting (3). Later, the upper
half of (3) will be sutured to (11),
the lower half to (8).
5/28/2018 78
79. • Landmark (11) is situated at a
distance ‘x’ from landmark (8)
perpendicularly away from
the white roll.
• Landmark (9) is paramount
because it defines two
structures on the affected
side: the width of the nostril
and the length of the lip.
• Landmark (9) should be
located on a distance (3)-(13)
from landmark (11), on the
border between skin and
mucosa. This distance
determines in part the length
of the lip.
5/28/2018 79
80. • Also the distance from the alar
base (10) to landmark (9)
should be identical to the
distance (4)-(5) on the normal
side. This will determine the
width of the new nostril.
Indeed landmark (9) will be
sutured to landmark (13).
• For the nostril landmark (9) is
ideally situated on a
perpendicular line from the
alar base on the affected side
to the border between skin
and mucosa and exactly on
this border.
5/28/2018 80
81. • Finally we mark a third
landmark (12). It is facing
the cleft and is the top of
the more-or-less ‘equally
sided triangle’. This
landmark should be chosen
as close to the vermillion
border as possible, in order
to save as much skin as
possible.
• The homologue landmark
on the NCS is (12’), located
just above the white roll on
a distance x from (3).
5/28/2018 81
82. Mucosal triangle landmarks
• To find the wet-dry
border: apply moderate
pressure with the volar
side of the index finger
along the white roll of
the lip. On the highest
profile, CS and NCS,
draw a line with
methylene blue.
5/28/2018 82
83. .
• Measure the distance between
landmark (2) and the wet-dry
border in a perpendicular
fashion. This distance (2)-(A) is
the reference for the pair side
(there is no need to tattoo
landmark A).
• The same distance is measured
on the CS lip from (8) to the wet-
dry border. This is most often not
done in a perpendicular way
since the lip is often thinner
near this side, so (B) is chosen
more laterally on the CS lip. This
landmark (B) is clearly indicated
with a needle dipped in
methylene blue.
5/28/2018 83
84. • Then measure the
distance from landmark
(3) perpendicular to the
blue line, and tattoo
landmark (B1).
• Deduct this distance
(3)-(B1) from distance
(8)-(B) to find landmark
(B2).
5/28/2018 84
85. • Choose landmark C’ on the
wet dry border on the cleft
side in such a way you
create a more-or-less
equally sided mucosal
triangle.
• Create landmark C on the
wet-dry border on the non-
cleft side, on such a
distance from (B1) that the
mucosal triangle will nicely
fit in—approximately the
distance (B)-(B2).
5/28/2018 85
86. • Distance (B)-(B2) is the base of an
equal-sided triangle, with one
side of the triangle lying along the
blue line.
• This full body mucosa-muscle
triangle, after incision, will be
brought in a deep incision from
(B1) to (C), thus splitting (B1).
• Later, the upper half of (B1) will
be sutured to (B2), the lower half
to (B).
• Landmark (C’) will be sutured to
(C). When this is done
appropriately the lip comes close
to symmetry and natural fullness.
5/28/2018 86
87. • The distance from landmark
(2) to (A) should finally
become the lipmucosa length
on the side of the cleft too.
• Distance (3)-(B1) is too small,
compared to (2)-(A), therefore
a triangular piece of mucosa is
taken from the cleft side and is
brought in via a deep incision
to the opposite side.
• Since length (3)-(B1) is ‘x’
shorter than (2)-(A), ‘x’ must
be added to establish equal
length.
5/28/2018 87
88. Vestibular landmarks
• To complete our design we
need to tattoo two more
landmarks: the vestibular
tops on both sides of the
cleft—where the alveolar
process starts.
• On the NCS, this is
landmark (TV). On the cleft
side we mark the same
landmark as (TV’).
• This landmark, though, is
more arbitrary than
landmark (TV).
5/28/2018 88
90. • Cutting design for the
anterior part of the
nose on the cleft side.
5/28/2018 90
91. • For the cutting procedure, use blade 11. Make
no incision deeper than the submucosal or
subcutaneous layer.
• This way there is no undue damage to the
orbicular muscles. Remove the mucosal and
cutaneous tissues in a conservative way.
5/28/2018 91
92. • C u t t i n g
• Cutting of the mucosal and cutaneous tissues
TV’
9
12
11
8
B
Initial incision no deeper
than submucosal or subcutaneous
layer.
5/28/2018 92
94. • Cutting for the Basket-Weave Muscle
Repair
• Cranial part
• Caudal part
The cranial part of the orbicular
muscle after dissection and
before it is cut.
5/28/2018 94
103. • Alar base suturing
• Basket-weave muscle suturing
Vertical lines indicating
where the muscle slings
should be attached to the
skin.
Normal lip during whistling.
You can see where the
muscle is attached to the
skin.
5/28/2018 103
105. • Final closure suturing
• Incisions for triangles
• Subcutaneous sutures
• Skin suturing
• Mucosal triangle
Suturing the skin triangle
5/28/2018 105
106. • Silastic sheet suturing
Roll of silastic sheet fixated
to the septum inside the
operated nostril
5/28/2018 106
107. • An important advantage of the Tennison-Randall
procedure is the lip lengthening effect between
the alar base and the Cupid’s bow on the affected
side (distance 8-10).
• The disadvantage however is the disturbance of
the aesthetic unit of the CS philtrum column in
the lower third, but not always that obvious.
• The philtrum dimple has a tendency to be more
flat in the classical Tennison. This is no longer the
case if the basket weave method of interlacing
the orbicular muscle is used.
5/28/2018 107
108. • The philtrum on the cleft side is violated by
the triangular flap, leaves a more noticeable
scar
• Difficulty in modifying the repair or
performing secondary revision at a later stage
due to the zigzags scars
5/28/2018 108
110. • A slight modification of the tennison type lip
repair is described in which the oblique
incision, instead of ending at the vermilion
border, is terminated 1mm above the border.
A vertical cut is then made across the
vermilion, making it easier to align the
vermilion border
5/28/2018 110
111. Unilateral Millard Procedure
• The Millard procedure is known as the rotation-
advancement technique.
• It is a more flexible technique —cut-as-you-go— but
needs more experience and artistry.
• The technique camouflages the violation of the
philtrum column near the nose.
• With the Millard technique, one easily gets a vertical
scar contracture with vermilion notching of the lip and
a notorious tendency towards a small nostril.
• Excessive narrowing of the nostril is never far from
reality and the surgeon simply should aim for a slightly
larger nostril on the cleft side.
5/28/2018 111
112. .
• The advancement flap is the
flap on the cleft side (10-9-8).
This advancement flap bridges
the cleft and ultimately
creates the cranial part of the
philtrum.
• The rotational flap is enclosed
by the curved line from (14) to
(3) and a straight line back
from (3) to (14).
• The C-flap (13-3-14) is used for
the nostril sill.
• Correct repositioning of the
orbicular muscle stays key.
5/28/2018 112
116. • Final closure suturing
• Incision mucosal triangle
• Subcutaneous sutures
• Back cut
• If you see that landmark (3) is still being pulled up because the
rotation flap is too short you can lengthen it by making a very small
back cut starting at marking point (14) coming vertically downward.
• If you go laterally this will influence the width of the nostril.
• Keep in mind that a back cut of 0.5 mm will lengthen the rotation
flap by 1 mm
5/28/2018 116
117. Bilateral Millard procedure
• This is the easiest and it’s not very difficult to
get symmetry and a very straightforward
procedure
• The result of the operation will be an upper lip
that is small in width compared to the lower
lip. With growth, however, this will improve.
• Another problem is the very short or even
absent columella. This is a problem that is
preferably solved at a much later stage.
5/28/2018 117
122. A patient after surgery. Notice
the relatively narrow
width of the upper lip and
the short columella and
philtrum.
5/28/2018 122
123. • Modified rotation advancement flap(mohler, 1986)
• Produces a scar line that more closely mimics the
normal philtral column, than original millards
technique
• Achieved by extending the rotation incision into the
columella and making a back cut
• Muscle repair is also performed
• Lengthening of columella occurs
• Scar line is more vertical and lateral in the upper lip,
which appears more natural
5/28/2018 123