CONGENITAL ANOMALIES AND PEDIATRIC PLASTIC SURGERY
CHAPTER 26 CRANIOFACIAL CLEFTS AND HYPERTELORBITISM
JAMES P. BRADLEY AND HENRY K. KAWAMOTO
Congenital craniofacial clefts are malformations of the cranium and face with deficiencies or excesses of tissue along an anatomic line based on embryologic maldevelopment.1 They are among the most disfiguring of all facial anomalies. Craniofacial clefts exist in a multitude of patterns and varying degrees of severity.2 They are expressed either unilaterally or bilaterally. In addition, one cleft type may manifest on one side of the face, while a different cleft type is present on the other side.3
The Tessier classification for rare craniofacial clefts is the most complete and has withstood the test of time.1 This classification links clinical observations with underlying skeletal deformities seen with preoperative 3D computed tomography (CT) scan imaging and confirmed during surgery. Newer neuroembryologic theories that allow for mapping of developmental zones of the face have confirmed the value of the Tessier classification to embryologists and geneticists, not just surgeons (Figure 26.1).4
In the Tessier classification, clefts are numbered from 0 to 14 (Figure 26.2). The eyelids and orbits are designated as the horizontal axis of this functional system dividing the face into upper and lower hemispheres. The orbit separates the facial clefts (0 through 7; going from medial to lateral) from the cranial clefts (8 through 14; going from lateral to medial). In many cases, the facial clefts extend into the cranium in predictable lines to form combination cranial and facial clefts, including 0 and 14, 1 and 13, 2 and 12, 3 and 11, 4 and 10, 5 and 9, and 6 and 8. The soft tissue and skeletal components are seldom affected to the same extent. The skeletal landmarks tend to be more constant and reliable than the soft tissue landmarks.
FIGURE 26.1. Embryological correlation to Tessier craniofacial clefts: Tessier-numbered craniofacial clefts are depicted as growth center junctions in this 45-day-old fetus.
DEFINING FEATURES OF CRANIOFACIAL CLEFTS
Number 0 Cleft
The number 0 cleft has been called median craniofacial dysraphia, centrofacial microsomia, frontonasal dysplasia, or median cleft face syndrome—but for accuracy it is the facial manifestation or lower half of “median craniofacial dysplasia.” Patients with this midline facial cleft may have a cranial extension or a number 14 cleft. The number 0 Tessier craniofacial clefts are unique in that there may be deficient, normal, or excess tissue. Tissue agenesis and holoprosencephaly (the hypoplasias) are one end of the spectrum, and frontonasal hyperplasia and excessive tissue (the hyperplasias) are the other end. Median anomalies with normal tissue volume occupy the middle portion of the spectrum (Table 26.1).5
Median craniofacial hypoplasia (deficiency of midline structures): A deficiency may manifest as hypoplasia or agenesis in which portions of midline facial structures are missing. This developmental arrest may range from the mildest form of hypoplasia of the nasomaxillary region and hypotelorism to a severe form of cyclopia, ethmocephaly, or cebocephaly. The subcategories inTable 26.1 demonstrate that the severity of the facial anomalies generally correlate with the severity of brain abnormality and mental retardation. Clinically, it may be important to distinguish among patients with poor brain differentiation (alobar holoprosencephaly) who may die in infancy from those with a better prognosis (lobar brain).
FIGURE 26.2. Tessier’s classification of craniofacial clefts: The left half (right side of the face) depicts the skeletal locations of numeric clefts and the right half (left side of the face) outlines the clinical locations of clefts based on soft tissue landmarks. Facial clefts, number 0 through number 7; cranial clefts, number 8 through number 14. Mandibular midline facial cleft number 30 is also seen.
Soft tissue deficiencies with Tessier 0 clefts include the upper lip and nose. Agenesis or hypoplasia may result in a false median cleft lip and absence of philtral columns. When a wide central cleft exists, it typically extends the length of the upper lip and into the nasal floor (Figure 26.3A). With nasal anomalies the columella may be narrowed or totally absent. The nasal tip may be depressed from lack of septal support. The septum may often be vestigial with no caudal attachment to the palate. Dental abnormalities may include a single maxillary central incisor or even absent central maxillary incisors.
Skeletal deficiencies range from separation between the upper central canines to absence of the premaxilla and a cleft of the secondary palate (Figure 26.3B). Nasal deficiency may include partial or total absence of the septal cartilage and even nasal bones. The bone defect may extend cephalad into the area of the ethmoid sinuses and result in hypotelorism or cyclopia.
FIGURE 26.3. Number 0 cleft: Median craniofacial hypoplasia. A. Patient with midline facial hypoplasia. B. Illustration shows skeletal involvement with separation between the central incisors and widening of the nasal region and orbital hypertelorism.
Median craniofacial dysraphia (normal tissue volume but clefted): These Tessier 0 clefts have normal tissue volume but are abnormally split (true median cleft lip) or displaced (encephalocele).
Soft tissue involvement: When an isolated cleft of the upper lip is not associated with tissue deficiency (e.g., absent nasal septum) or tissue excess (e.g., duplicated septum), it is considered a “true” median cleft lip (Figure 26.4). With a true median cleft lip there is a split between the median globular processes; whereas, with a false median cleft lip an agenesis of the globular processes may occur.
Skeletal involvement: When the true median cleft passes between the central incisors, the cleft can continue posteriorly as a midline cleft palate. When the cleft encroaches into the interorbital region, hypertelorbitism may occur.
Median craniofacial hyperplasia (excess of midline tissue): This spectrum of midline anomalies includes all forms of excess tissue from a thickened or duplicated nasal septum to the more severe forms of frontonasal dysplasia (Figure 26.5).
Soft tissue midline excess may be manifested in the lip with broad philtral columns or a duplication of the labial frenulum. The nose may be bifid with a broad columella and mid-dorsal furrow. The alar and upper lateral cartilages may be displaced laterally.
Skeletal excess in a wide 0 facial cleft can be seen as a diastema between the upper central incisors. A duplicate nasal spine may exist. A keel-shaped maxillary alveolus with anterior teeth angled toward the midline creating an anterior open bite is characteristic. Central midface height is shortened. The cartilaginous and bony nasal septum is thickened or duplicated. The nasal bones and nasal process of the maxilla are broad, flattened, and displaced laterally from the midline. Ethmoidal and sphenoidal sinuses may be enlarged, contributing to symmetrical widening of the anterior cranial fossa and hypertelorism.
FIGURE 26.4. Number 0 cleft: Median craniofacial dysplasia. Patient with a “true” median cleft lip deformity.
FIGURE 26.5. Number 0 cleft: Median craniofacial hyperplasia. A–C. Patients with excessive midline tissue manifested by bifid nose and an accessory band of skin on the nasal dorsum.
FIGURE 26.6. Number 1 cleft. A. Patient with notched left alar dome and orbital dystopia. B. Skeletal involvement is through the pyriform aperture just lateral to the nasal spine and septum. The orbit is displaced laterally.
Number 1 Cleft
Soft tissue involvement: The number 1 cleft, similar to the common cleft lip, passes through the cupid’s bow and then the alar cartilage dome. Notching in the area of the soft triangle of the nose is a distinct feature (Figure 26.6A). The columella may be short and broad. The nasal tip and nasal septum deviate away from the cleft. When the cleft is evident medially to a malpositioned medial canthus, telecanthus may result. With accompanying cranial extension as a number 13 cleft, vertical dystopia may be present.
Skeletal involvement: An alveolar cleft would pass between the central and lateral incisors (Figure 26.6B). This paramedian cleft separates the nasal floor at the pyriform aperture just lateral to the nasal spine. The cleft may extend posteriorly as a complete cleft of the hard and soft palate. Extension of the cleft in a cephalad direction is through the junction of the nasal bone and the frontal process of the maxilla.
Number 2 Cleft
Soft tissue involvement: This other paramedian facial cleft may also begin in the region of the common cleft lip. However, the nasal deformity is in the middle third of the alar rim and distinguishes the number 2 cleft (Figure 26.7A). In the number 2 cleft the ala is hypoplastic, whereas in the number 1 cleft, the ala is merely notched at the dome. The lateral aspect of the nose is flattened and the dorsum is broad. The eyelid is not involved; the cleft passes medially to the palpebral fissure. Although the medial canthus is displaced, the lacrimal duct is usually not involved. If the cleft continues in a cephalad direction as a cranial number 12 cleft, then distortion of the medial brow is noted.
Skeletal involvement: The number 2 cleft begins between the lateral incisor and the canine. It extends into the pyriform aperture, lateral to the septum and medial to the maxillary sinus (Figure 26.7B). A hard and soft palate cleft may occur. The nasal septum may be deviated away from the cleft. The cleft distorts the nasal bones as it passes between the nasal bones and the frontal process of the maxilla. Asymmetry of the greater and lesser sphenoid wings and anterior cranial base is present.5
Number 3 Cleft
The number 3 cleft or the oronasoocular cleft is the most common of the Tessier craniofacial clefts.
Soft tissue involvement: The number 3 cleft begins similar to number 1 and number 2 clefts passing through the philtral column and floor of the nose (Figure 26.8A). Deficiency of tissue between the alar base and lower eyelid results in a shortened nose on the affected side. The cleft passes between the medial canthus and the inferior lacrimal punctum. The lacrimal system, particularly the lower canaliculus, is disrupted. Blockage of the nasolacrimal duct and recurrent infections of the lacrimal sac are common. The inferior punctum is displaced downward and drainage may occur directly onto the cheek instead of into the nasal cavity.
The medial canthus is inferiorly displaced and may be hypoplastic. Colobomas of the lower eyelid are medial to the inferior punctum. Involvement of the globe is rare but microphthalmia may occur. Typically, the eye is malpositioned inferiorly and laterally. Injury to the eye, including corneal erosions, ocular perforation, and loss of vision, may result from desiccation unless the globe is protected.
Skeletal involvement: Osseous characteristics of this facial cleft include involvement of the orbit and direct communication of the oral, nasal, and orbital cavities (Figure 26.8B). The cleft begins between the lateral incisor and the canine. In contrast to the number 1 and number 2 facial clefts, the anterior maxillary arch is flat in the number 3 cleft. The number 3 cleft disrupts the frontal process of the maxilla and then terminates in the lacrimal groove. Both the orbital floor and anterior cranial base are displaced inferiorly.
Number 4 Cleft
The number 4 cleft occurs lateral to the nose and other median facial structures.
Soft tissue involvement: As opposed to numbers 1, 2, and 3 facial clefts, the number 4 cleft begins lateral to cupid’s bow and the philtral column, medial to the oral commissure, and goes lateral to the nose (Figure 26.9A). The orbicularis oris muscle is located in the lateral lip element with no muscle centrally. The cleft passes lateral to the nasal ala. Although the ala is not involved and the nose is intact, the ala is displaced superiorly.6 Bilateral involvement pulls the nose upward. The cleft extends through the cheek and into the lower eyelid lateral to the inferior punctum. The lower eyelid and lashes may extend directly into the lateral aspect of the cleft. The medial canthus and nasolacrimal system are normal. The globe is typically normal but microphthalmia and anophthalmos may be seen.
Skeletal involvement is usually less extensive than the number 3 cleft. The alveolar cleft begins between the lateral incisor and the canine (Figure 26.9B). The cleft extends lateral to the pyriform aperture to involve the maxillary sinus. The medial wall of the maxillary sinus is intact. A confluence exists between the oral cavity, maxillary sinus, and orbital cavity but not the nasal cavity. The cleft then passes medial to the infraorbital foramen. This landmark defines the boundary between the medial number 4 facial cleft and lateral number 5 facial cleft. The number 4 cleft terminates at the medial aspect of the inferior orbital rim. With an absent medial orbital floor and rim, the globe may prolapse inferiorly. In bilateral cases, the medial midface and premaxilla are protrusive.
FIGURE 26.7. Number 2 cleft. A. Patient with hypoplasia of the middle third of the right nostril rim causing the appearance of alar base retraction. The lateral nose is flattened. The medial border of the eyebrow is also distorted as evidence of a number 12 cranial cleft. There is also orbital dystopia and displacement of the right medial canthus. B. Skeletal involvement shows deformity of the pyriform aperture and nasal bone.
FIGURE 26.8. Number 3 cleft. A. Patient with complete form has a right cleft lip and palate and severe shortening of tissues between the right alar base and medial canthus. The right nasal ala is displaced superiorly, the medial canthus is displaced inferiorly, and the nasolacrimal system is disrupted. B. Skeletal involvement is between the lateral incisor and the canine extending up through the lacrimal groove. The cleft creates a direct communication among the orbital, maxillary sinus, and nasal and oral cavities.
FIGURE 26.9. Number 4 cleft. A. Bilateral clefting of the upper lip lateral to cupid’s bow with malar extension to the lower eyelids terminating in the lower eyelid medial to the punctum with asymmetric involvement. B. Skeletal involvement begins between the lateral incisor and canine and extends through the maxilla between the infraorbital foramen and the pyriform aperture. The orbit, maxillary sinus, and oral cavities communicate.
Number 5 Cleft
This facial cleft is the rarest of the oblique facial clefts.
Soft tissue involvement: (Figure 26.10A, B) The number 5 facial cleft begins just medial to the oral commissure and courses along the cheek lateral to the nasal ala. The cleft terminates in the lateral half of the lower eyelid. Although the globe is typically normal, microphthalmia may occur.
Skeletal involvement: The alveolar cleft begins lateral to the canine in the region of the premolars. In contrast to the number 4 cleft, the number 5 cleft then courses lateral to the infraorbital foramen and terminates in the lateral aspect of the orbital rim and floor (Figure 26.10C). The cleft is separated from the inferior orbital fissure. The maxillary sinus may be hypoplastic. Prolapse of orbital contents through the lateral orbital floor defect into the maxillary sinus causes vertical orbital dystopia. The lateral orbital wall may be thickened and the greater sphenoid wing abnormal. The cranial base is normal.
FIGURE 26.10. Number 5 cleft (left) and number 4 cleft (right). A. This patient demonstrates bilateral facial clefts with a left-sided number 5 cleft beginning just medial to the oral commissure and extends up the lateral cheek to the middle of the eyelid while the right-sided number 4 cleft begins lateral to cupid’s bow and extends up to the medial third of the lower eyelid. B. Postoperative view of same patient after repair of bilateral clefts. C. Skeletal involvement in the left-sided number 5 cleft begins at the premolars and extends lateral to the infraorbital foramen, while the right-sided number 4 cleft begins between the lateral incisor and canine and passes medial to the infraorbital foramen.
FIGURE 26.11. Number 6 cleft. A. Patient with an incomplete form of Treacher-Collins syndrome shows bilateral linear malar hypoplasia. B. Skeletal involvement occurs in the region of the zygomaticomaxillary suture. The zygoma is hypoplastic.
Number 6 Cleft
This zygomaticomaxillary cleft represents an incomplete form of Treacher-Collins syndrome. Similar and often more severe cleft facial features are seen in Nager syndrome. Patients with Nager syndrome may also have radial club deformities of the upper extremities.
Soft tissue involvement: The cleft is often identified as a vertical furrow due to hypoplastic soft tissue from the oral commissure to the lateral lower eyelid (Figure 26.11A). This line of hypoplasia runs through the zygomatic eminence along an imaginary line from the angle of the mandible to the lateral palpebral fissure. The lateral palpebral fissure is pulled downward. The lateral canthus is displaced inferiorly. This may create an appearance of a severe lower lid ectropion and an antimongoloid slant. Colobomas appear in the lateral lower eyelid and mark the cephalic end of the cleft.
Skeletal involvement: The number 6 facial cleft is along the zygomaticomaxillary suture separating the maxilla and zygoma (Figure 26.11B). There is no alveolar cleft but a short posterior maxilla may result in an occlusal tilt. Choanal atresia is common. The cleft enters the orbit at the lateral third of the orbital rim and floor and connects to the inferior orbital fissure. The zygoma is hypoplastic.
Number 7 Cleft
This temporozygomatic facial cleft is the most common craniofacial cleft. It is seen in some cases of craniofacial microsomia (oculo-auriculo-vertebral spectrum).7 The number 7 cleft is also seen in Treacher-Collins syndrome (Figure 26.12).
Soft tissue involvement: The cleft begins at the oral commissure and varies from a mild broadening of the oral commissure with a preauricular skin tag to a complete fissure extending toward a microtic ear. Typically, the cleft does not extend beyond the anterior border of the masseter. However, the ipsilateral tongue, soft palate, and muscles of mastication (cranial nerve V) may be underdeveloped. The parotid gland and parotid duct may be absent. Facial nerve weakness (cranial nerve VII) may be present. External ear deformities range from preauricular skin tags to complete absence of the ear. Preauricular hair is usually absent in patients with craniofacial microsomia. Patients with Treacher-Collins often have preauricular hair from the temporal region pointing to the oral commissure. The ipsilateral soft palate and tongue are often hypoplastic.
Skeletal involvement: A wide range of osseous anomalies are associated with a number 7 cleft. The skeletal cleft passes through the pterygomaxillary junction. Tessier believed that the cleft is centered in the region of the zygomaticotemporal suture. The posterior maxilla and mandibular ramus are hypoplastic in the vertical dimension, creating an occlusal plane that is canted cephalad on the affected side. The coronoid process and condyle are also often hypoplastic and asymmetric, which contributes to a posterior open bite on the affected side. The zygomatic body is severely malformed, hypoplastic, and displaced. In the most severe form, the zygomatic arch is disrupted and is represented by a small stump. The malpositioned lateral canthus is caused by a hypoplastic zygoma that results in the inferiorly displaced superolateral angle of the orbit. Occasionally, severely deforming number 7 clefts can cause true orbital dystopia. The abnormal anterior zygomatic arch continues posteriorly as a normal zygomatic process of the temporal bone. The cranial base is asymmetric and tilts causing an abnormally positioned glenoid fossa. The anatomy of the sphenoid is abnormal and there can be a rudimentary medial and lateral pterygoid plate.
FIGURE 26.12. Number 7 cleft: Patient with a complete fissure of the right oral commissure, which extends toward the external ear resulting in macrostomia.
FIGURE 26.13. Combination number 6, 7, and 8 cleft. A. Patient with Treacher-Collins syndrome demonstrates malar hypoplasia, antimongoloid slant to palpebral fissure, and a retruded chin. B. Postoperative image after malar reconstruction with cranial bone grafts, eyelid reconstruction with lid switch flaps, and mandibular distraction to remove the tracheostomy. Subsequently, the patient underwent bilateral total ear reconstruction. C. Skeletal involvement in the complete form includes absence of the zygoma, lateral orbital wall (greater wing of sphenoid provides remaining portion of the lateral wall), and lateral orbital floor.
Number 8 Cleft
This frontozygomatic cleft divides the facial clefts from the cranial clefts. The number 8 cleft rarely occurs alone but usually associated with other craniofacial clefts, like Treacher-Collins syndrome (Figure 26.13A, B). Tessier believed that Treacher-Collins syndrome was a combination of the 6, 7, and 8 facial clefts.
Soft tissue involvement: The number 8 cleft extends from the lateral canthus to the temporal region. A dermatocele may occupy the coloboma with absence of the lateral canthus. Abnormalities of the globe, in the form of epibulbar dermoids and lipodermoids, are also often present, especially in Goldenhar’s syndrome.
Skeletal involvement: The bony component of the cleft occurs at the frontozygomatic suture. Tessier noted a notch in this region in patients with Goldenhar syndrome. In the complete form of Treacher-Collins syndrome, the zygoma may be hypoplastic or absent and the lateral orbital wall missing (Figure 26.13C). Thus, the lateral palpebral fissure’s only support is the greater wing of the sphenoid and downward slanting occurs. With this bony defect, there is soft tissue continuity of the orbit and temporal fossa.
Number 9 Cleft
This upper lateral orbit cleft is the rarest of the craniofacial clefts. The number 9 cleft begins the march from lateral to medial of cranial clefts 9 through 14.
Soft tissue involvement: The number 9 cleft is manifested by abnormalities of the lateral third of the upper eyelid and eyebrow (Figure 26.14). The lateral canthus is also distorted. In the severe form, microphthalmia is present. The superolateral bony deficiency of the orbits allows for a lateral displacement of the globes. The cleft then extends cephalad into the temporoparietal hair-bearing scalp. The temporal hairline is anteriorly displaced and an abnormal projection of temporal hair is often seen in the number 9 cleft.
Skeletal involvement: The bony defect of the number 9 cranial cleft extends through the superolateral aspect of the orbit. Distortion of the upper part of the greater wing of the sphenoid, the squamosal portion of the temporal bone, and surrounding parietal bones may be present. Hypoplasia of the greater wing of the sphenoid results in a posterolateral rotation of the lateral orbital wall.
Number 10 Cleft
Soft tissue involvement: The number 10 cleft begins at the middle third of the upper eyelid and eyebrow (Figure 26.15A). The lateral eyebrow may angulate temporally. The palpebral fissure may be elongated with an amblyopic eye displaced inferolaterally. The entire upper eyelid may be absent in severe forms (ablepharia). Colobomas and other ocular anomalies may be present. Frontal hair projection may connect the temporoparietal region to the lateral brow.
FIGURE 26.14. Number 9 cleft: Patient with left side rare number 9 cleft through the superiolateral orbital roof with microphthalmia.
FIGURE 26.15. Number 10 cleft. A. Patient with fronto-orbital encephalocele in the mid-right forehead. This fills the void from the cleft defect in the center of the left superior orbital rim. The right globe is displaced downward. B. Skeletal defect and asymmetric hypertelorism are demonstrated on the right.
Skeletal involvement: The bony component of the number 10 cranial cleft occurs in the middle of the supraorbital rim just lateral to the superior orbital foramen (Figure 26.15B). Often an encephalocele occupies the defect through the frontal bone, and a prominent bulge is observed in the forehead. The orbit may be deformed with a lateroinferior rotation. Severe cases may result in orbital hypertelorism. The anterior cranial base may also be distorted.
Number 11 Cleft
Soft tissue involvement: The medial third of the upper eyelid may show involvement with a coloboma (Figure 26.16). There may be disruption of the upper eyebrow, which extends up to the frontal hairline. A tongue-like projection at the medial third of the frontal hairline may also be identified.
FIGURE 26.16. Number 11 cleft. A. Left lateral view of patient with large right frontoencephalocele, a left side number 3, 11 and right side 3, 10 craniofacial cleft. B. Computed tomographic scan revealed significant bony defect of the right fronto-orbital region. C. Frontal view after encephalocele repair and right fronto-orbital reconstruction; the patient showed improvement but still had orbital and facial cleft deformities. D. Patient seen after premaxillary repositioning and bilateral cleft lip adhesion.
Skeletal involvement: The number 11 cleft may be seen as a cleft in the medial third of the supraorbital rim if it passes lateral to the ethmoid bone. If the cleft passes through the ethmoid air cells to produce extensive pneumatization, then orbital hypertelorism results. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.
Number 12 Cleft
Soft tissue involvement: The soft tissue cleft lies medial to the medial canthus and colobomas extend to the root of the eyebrow (Figure 26.17A). There is lateral displacement of the medial canthus with aplasia of the medial end of the eyebrow. There are no eyelid clefts. The forehead skin is normal with a short downward projection of the paramedian frontal hairline.
Skeletal involvement: The number 12 cleft passes through the flattened, frontal process of the maxilla (Figure 26.17B). It then travels superiorly, increasing the transverse dimension of the ethmoid air cells, producing orbital hypertelorism and telecanthus. The frontal and sphenoid sinuses are also pneumatized and enlarged. The frontonasal angle is obtuse. The cleft is located lateral to the olfactory groove; thus, the cribriform plate is normal in width. Encephaloceles have not been observed with this cleft.
Number 13 Cleft
Soft tissue involvement: The soft tissue cleft is medial to intact eyelids and eyebrows; however, the eyebrow may be displaced (Figure 26.18). The cleft is located between the nasal bone and the frontal process of the maxilla and may have a paramedian frontal encephalocele. A V-shaped frontal hair projection can also be seen.
Skeletal involvement: Changes in the cribriform plate are the hallmark of a number 13 cleft. The paramedian bony cleft traverses the frontal bone, and then courses along the olfactory groove. There is widening of the olfactory groove, the cribriform plate, and the ethmoid sinus, which results in hypertelorism. A paramedian frontal encephalocele can cause the cribriform plate to be displaced inferiorly, leading to orbital dystopia. When the cleft is bilateral, some of the most extreme cases of hypertelorism can be seen.2
FIGURE 26.17. Number 12 cleft. A. Patient with left-sided cleft has hypertelorbitism and a disturbance of the left medial eyebrow. B. Postoperative image of patient after facial bipartition, medial canthopexy, but prior to nasal correction. C. Skeletal involvement of left side clefting through the frontal process of the maxilla displacing the orbit laterally.
FIGURE 26.18. Number 13 cleft. A. Newborn with a right cleft, which begins cleft through the right alar dome (number 1 cleft) and extends to the frontal bone to cause right-sided hypertelorbitism. B. Postoperative image after corrective facial bipartition and nasal reconstruction with forehead flap.
Number 14 Cleft
Soft tissue involvement: Similar to its facial counterpart, the number 0 cleft, the number 14 cleft may produce agenesis, normal (cleft) or overabundance of tissue (Figure 26.19). With agenesis, orbital hypotelorism results; more severe holoprosencephalic malformations include cyclopia, ethmocephaly, and cebocephaly. Malformations of the forebrain are usually proportional to the degree of facial abnormality.
At the other end of the spectrum, orbital hypertelorism is associated with the number 14 cleft. Lateral displacement of the orbits can be produced by midline masses such as a frontonasal encephalocele and a midline frontal encephalocele. Flattening of the glabella and extreme lateral displacement of the inner canthi are also seen. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft.
FIGURE 26.19. Number 14 cleft. A. Patient with number 0 to 14 cleft with hypertelorbitism, a form of median craniofacial hyperplasia (tissue excess). B. Postoperative image after corrective encephalocele repair, medial orbit repositioning, and nasal bone grafting. C. Skeletal involvement shows displacement of the frontal process of the maxilla, the nasal bones, and medial orbital walls laterally. This large defect is often occupied by an encephalocele.
Skeletal involvement: The frontal encephalocele herniates through a medial frontal defect (Figure 26.19B). The caudal aspect of the frontal bone is flattened giving the glabellar region a flattened and indistinct position. No pneumatization of the frontal sinus is evident; however, the sphenoid sinus is extensively pneumatized. The crista galli and the perpendicular plate of the ethmoid are bifid or widened and caudally displaced. Consequently, the cribriform plate, which is normally located 5 to 10 mm below the level of the orbital roof, can be caudally displaced up to 20 mm. The anterior cranial fossa is upslanting, causing a harlequin eye deformity on plain radiographs.
Number 30 Cleft
The median cleft of the lower jaw is caudal extension of the number 14 cranial cleft and number 0 facial cleft.
Soft tissue involvement of this midline cleft may be as mild as a notch in the lower lip. However, often the entire lower lip and chin may be involved (Figure 26.20). The anterior tongue may be bifid and attached to the split mandible by a dense fibrous band. Ankyloglossia and total absence of the tongue have been reported with midline mandibular clefts.
Skeletal involvement is typically a cleft between the central incisors extending into the mandibular symphysis. This anomaly is thought to be caused by failure of fusion of the first branchial arch. As an example, the hyoid bone may be absent and the thyroid cartilages may fail to form completely. The anterior neck strap muscles are often atrophic and replaced by dense fibrous bands that may restrict chin flexion.
With cranial clefts 10 through 14, the distance between the medial canthi may be increased (telecanthus) and the bony interorbital distance may be increased (orbital hypertelorism or hypertelorbitism). The bony interorbital distance is typically measured with a CT scan as the interdacyron (the most medial region of the orbit) distance. Excessive interdacyron distance or hypertelorbitism may be mild (30 to 34 mm), moderate (35 to 39 mm), or severe (>40 mm). In the growing child, excessive distance may be considered anything over 25 mm (Figure 26.21).8 More specific information on bony interorbital distance by age and sex in growing children can be found in normative data tables such as that provided by Waitzman et al.9
Orbital dystopia may be either vertical or horizontal. The midline number 14 cleft may have horizontal or transverse dystopia with the bony orbits displaced laterally (orbital hypertelorism) or medially (hypotelorism); whereas, the lateral number 10 through 13 clefts may have a component of vertical dystopia or asymmetric orbital hypertelorism with the orbits on different horizontal planes.
Correction of hypertelorbitism may be achieved with a facial bipartition or orbital box osteotomy. A facial bipartition involves a coronal and gingivobuccal sulcus incision, a craniotomy for exposure, orbital and midface osteotomies, central wedge ostectomy (between the orbits), transposition of the orbits to an intradacyron distance less than 17 mm, and rigid fixation (Figure 26.22).10 Medial canthi bolsters and correction of excessive glabellar soft tissue is necessary. In addition to narrowing the orbital distance, a facial bipartition procedure will also widen a constricted palatal arch. Alternatively, an orbital box osteotomy may be used to narrow orbital distance or correct vertical dystopia. The latter technique may be more appropriate in circumstances where palatal arch width is not narrowed, and widening of the arch width would result in lateral crossbite.
FIGURE 26.20. Number 30 cleft. A. Preoperative view of patient with number 30 cleft with a deep tongue groove and fusion to the clefted mandible. (Also presented are number 0 to number 14 clefts). B. Postoperative view of same patient with number 30 midline mandibular cleft after skeletal and soft tissue repair. (Courtesy of Cassio Raposo.)
FIGURE 26.21. Number 0, 14 cleft correction. A–B. Frontal views of patient with Tessier number 0 to number 14 craniofacial cleft. A. Preoperative image demonstrating large midline frontonasal encephalocele. B. Postoperative image after gradual orbital contraction procedure and median cleft lip and nose repair. C and D. Lateral views of patient with Tessier number 0 to number 14 craniofacial cleft. C. Preoperative image demonstrating the anterior displacement of the encephalocele with functional problems of independent ocular movement and drooling. D. Postoperative image after corrective procedures. Functional improvements in ocular, oral competence, and speech were noted. E. Preoperative 3D CT scan with large central osseous defect and 81 mm interdacryon distance. F. Postoperative 3D CT scan image after orbital distraction with midline device in place.
FIGURE 26.22. Facial bipartition technique: Illustration. A. Frontal view of osteotomy lines, including craniotomy, midline asymmetric V-wedge excision of frontonasoethmoidal bone, and midface buttresses (zygomatic arch, circumferential orbital walls, and pterygomaxillary). B. Frontal view of fixation with midline “keystone” box fixation plate.
Craniofacial clefts are variable defects of the hard and soft tissue. They range from mild, barely visible (forme fruste) to severe, largely disfiguring.
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