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Understanding and Caring for Children with Cleft Lip and Palate
workup and counseling is mandatory, as is heightened suspicion for other physical and physiologic anomalies.
Etiology ------------------------------------------------------------------------------------------------------------------------------------------------
CHAPTER 54
Understanding and Caring for Children with Cleft Lip and Palate James Y. Liau, John A. van Aalst, and A. Michael Sadove
Epidemiology ------------------------------------------------------------------------------------------------------------------------------------------------
The incidence of orofacial clefting varies among racial backgrounds. Because of the close association between cleft lip and palate, the presence of cleft lip is often described as being with or without cleft palate. Worldwide prevalence of cleft lip and palate is 1 per 700 live births.1 People of African descent have the lowest incidence of cleft lip with/without cleft palate at 0.5 per 1000 live births, followed by whites (1 per 1000 live births), and Asians (1.3 per 1000 per live births). Overall, an isolated cleft lip makes up approximately 21% of all patients with cleft lip and palate. Unilateral clefts are roughly 9 times more prevalent than bilateral cleft lips, and males are more affected than females. The U.S. incidence of cleft palate alone ranges from 0.3 to 0.5 per 1000 live births.2 A child with a cleft lip with or without cleft palate has an approximately 30% chance of having an associated syndrome; interestingly, a child with an isolated cleft palate has a 50% incidence of an associated syndrome.2,3 Because of this association, genetic
Genetic and environmental factors have both been associated with clefting. If other family members are affected by a cleft, offspring have an increased chance of being affected. For example, if a family already has a child with a cleft, or one parent has a cleft, the chance that the next child will have a cleft is 4%; with two affected children, the chance that a third child will have a cleft increases to 9%. The probability increases to 17% in a family if both a child and parent have a cleft.4 This increase in frequency is seen in spontaneous clefting not associated with syndromes. There are some syndromes in which clefting can be passed down in an autosomal dominant fashion, such as van der Woude syndrome, where presence of the cleft palate is an autosomal dominant trait. Environmental causes of clefting include the use of anticonvulsants, including phenytoin, which is associated with 10-fold increase in clefting; maternal smoking increases the incidence twofold. Other environmental influences, such as alcohol use, the use of retinoic acid, and dietary causes, including zinc and folate deficiencies, can cause syndromes with clefting; however, these are not directly linked to isolated cleft lip/palate. People with certain genotypes are more susceptible to certain environmental exposures; hence, women with less efficient methyl tetrahydrofolate reductase enzymes are more prone to clefting in the face of folic acid deficiency.5–12
Embryology ------------------------------------------------------------------------------------------------------------------------------------------------
Basic understanding of midface and palatal embryologic development helps elucidate the pathoanatomy of cleft lip with or without palate. Orofacial clefting occurs when there is failure of fusion of maxillofacial structures migrating from lateral to medial during the initial 4 to 10 weeks of embryonic development. A key anterior–posterior embryologic and anatomic landmark in understanding clefts is the incisive foramen. The structures that form anterior to the foramen ultimately develop into the nose, lip, and alveolus; embryologically, these structures form first and are designated as the primary palate. The structures that form posterior to the foramen become the hard palate and soft palate, and are referred to as the secondary palate, because they fuse secondarily. Clefting of the lip (primary palate) occurs when the nasomedial and nasolateral prominences of the frontonasal prominence do not meet with the maxillary prominence (Fig. 54-1, A). Clefting of the palate (secondary palate) occurs when the lateral palatine shelves do not elevate and fuse at the midline to each other or to the primary palate (Fig. 54-1, B). Because the development of this craniofacial area is complex, deformities can occur at multiple points along the embryologic time line, resulting in a full spectrum or combination of anomalies.
Anatomy ------------------------------------------------------------------------------------------------------------------------------------------------
UNILATERAL CLEFT LIP A cleft lip affects the anatomy of the lip, philtrum, nose, as well as the alveolus, depending on the severity of the defect. Microform clefts are the mildest form of clefting, involving 699
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Primary palate Nasolateral
Nasomedial
Incisor foramen
Secondary plate
A
Maxillary prominence
B Lateral palatine shelves
FIGURE 54-1 A, The nasolateral and nasomedial prominence fuse to make the lip and nose. Lack of fusion between the maxillary nasal prominence with the nasomedial prominence will yield a cleft lip. B, The lateral palatine shelves fuse in the midline, thus forming the secondary palate. The primary palate fuses posteriorly with the palatine shelves to form a complete palate.
the vermillion and white roll, and can be quite subtle (Fig. 54-2, A). Incomplete clefts are associated with absence of skin, mucosa, and orbicularis muscle but have a retained webbing of skin across the floor of the nasal aperture, referred to as a Simonart band (Fig. 54-2, B). A complete unilateral cleft involves the alveolus, and can be associated with a cleft of the palate (Fig. 54-2, C). The most obvious deformity involving a cleft lip is discontinuity of the lip itself. However further analysis of the defect demonstrates deviation of the nasal septum and columella, as
well as widening or flattening of the cleft-side nasal cartilage. Other defects include the lack of nasal floor and discontinuity of the lip, muscle, and the alveolar ridge. Successful surgical correction of the lip must address all of these structures.
BILATERAL CLEFT LIP Bilateral clefts have a two-sided discontinuity of the lip, with a central portion, the premaxilla, which is discontinuous from either of the lateral segments. The premaxilla contains
B
A
C FIGURE 54-2 A, Microform cleft can be seen with mild notching of the lip’s vermilion along with the minimal distortion of the nose. B, Incomplete cleft has some webbing across the cleft with some retention of the lateral nose; however, the skin across the cleft is devoid of orbicularis oris muscle and is functionless. This skin is also called a Simonart band. C, Complete cleft lip has lateralization of the lip and lateral nasal element. Notice the deviation of the nasal columella and philtrum away from the cleft, and the flattened nose on the cleft side. This picture also demonstrates the clefting of the palate, which allows an unobstructed view into the nasal airway.
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CLEFT PALATE
A
B FIGURE 54-3 A, Bilateral cleft lip with a Simonart band transversing both clefts. B, Complete bilateral cleft lip. The midline protuberance is called the premaxilla and is much more protruding than an incomplete bilateral cleft; tethering of the Simonart bands help in keeping the premaxilla in a more anatomic position. Absence, or shortening of the columella, widening of the alar bases, and anterior projection of the premaxilla are all trademarks of bilateral cleft lips.
elements of skin, mucosa and bone, which can be asymmetrically deviated to one side or the other, and can be anteriorly positioned, depending on the severity of the deformity. Bilateral clefts can be incomplete with Simonart bands (Fig. 54-3, A), or complete with defects that proceed through the alveolar ridges (Fig. 54-3, B). A central feature of the bilateral cleft lip deformity is depression of the nasal tip, a shortened columella, and widely splayed alae.
Clefts of the palate can exist with clefts of the lip or may be present alone. Anatomically, the hard palate begins immediately posterior to the incisive foramen, with embryologic fusion of the palate from anterior to posterior. Hence, an isolated cleft of the soft palate may exist; however, an isolated cleft of the hard palate cannot. A complete cleft of the secondary palate includes both the hard and soft palate, extending anteriorly from the incisive foramen to the uvula, and this can be bilateral as well (Fig. 54-4). The primary function of the palate is to separate the oral cavity from the nasal cavity. This function is lost in the presence of a cleft. The function of the soft palate is primarily speech related and dependent on five paired muscles, the two most important of which are the levator veli palatini and the tensor veli palatini. Ordinarily, these muscles form a transverse sling enabling the palate to rise and move posteriorly to close the oropharynx from the nasopharynx. In a cleft palate, these muscles abnormally insert onto the posterior shelf of the hard palate, and as a consequence, the palate is deficient in its ability to seal off the oropharynx from the nasopharynx. A submucous cleft is the most minor expression of the clefting spectrum. The soft palate mucosa is actually intact, but split posteriorly, resulting in a bifid uvula; there is a midline lucency in the soft palate, referred to as a zona pellucidum, which is a muscle diastasis, and a notch at the midline, posterior edge of the hard palate.13 As in a full cleft, the levator and tensor veli palatine abnormally insert onto the posterior hard palate, preventing the soft palate from moving appropriately during speech, potentially leading to nasal sounding speech. The incidence of submucous clefts is roughly 1 in 1,200 to 2,000; however, this is likely an underestimation, because many patients may not seek treatment or even know of their submucous cleft unless there is functional speech deficit.14
Treatment Protocols ------------------------------------------------------------------------------------------------------------------------------------------------
The timing for cleft lip repair in the United States is generally between 3 to 6 months of age. Depending on the severity of the deformity, various forms of presurgical orthopedics can be used to prepare the child for lip surgery. In general, the goals of these techniques are to improve the alignment of the alveolar segments, decrease the size of the soft tissue cleft, and to
FIGURE 54-4 The figure on the left depicts a cleft of the secondary palate only; there is an intact hard palate. The middle figure depicts a complete unilateral cleft. The figure on the right depicts a complete bilateral cleft.
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A
FIGURE 54-6 lip repair).
B FIGURE 54-5 A, A unilateral cleft lip prior to nasoalveolar molding (NAM) has a wide alveolar cleft, slumping of the nasal cartilage on the cleft side, and lateralization of the alar base of the cleft side. B, Nasoalveolar molding assists in realigning the alveolar segments, reshaping the slumping nasal cartilage of the cleft side, and medializing the alar base of the cleft side.
improve the symmetry of the nose. The simplest form is a taping regimen (literally from cheek to cheek) that helps to pull the two sides of the clefts together, with the goal of narrowing the cleft and realigning the tissues in an anterior-posterior dimension. Some centers also use a technique termed nasoalveolar molding (NAM) to address the three major components of the cleft deformity (Fig. 54-5). NAM addresses the slumping of the nasal alar cartilage, helps realign the alveolar ridges, and brings the soft tissue of the lips into closer proximity.15,16
CLEFT LIP SURGICAL REPAIR Unilateral There are multiple surgical techniques for cleft lip repair. A recent survey of U.S. cleft surgeons found three predominant surgical techniques for unilateral cleft lip repair: the Millard rotation-advancement technique (46%), the Millard rotation-advancement technique with modifications (38%), and triangular flap techniques (9%).17 Techniques for bilateral cleft lip repair include variations of techniques introduced by Millard and by Mulliken.18 In a unilateral cleft lip, there is absence of central tissue of the lip and philtrum, as well as of the nasal columella, depending on the severity of the cleft. The overall goals of surgery are restoration of lip continuity, which starts with functional orbicularis oris muscle reapproximation, establishing symmetry of the lip (especially at the central cupid’s bow) and nose, with aesthetic placement of scars in anatomic subunits. The rotation-advancement repair, as described by Dr. Ralph Millard
Markings for the rotation-advancement lip repair (Millard
in 1976, addresses all of these goals (Fig. 54-6). Because there is a paucity of tissue medial to the cleft, the downward rotation of the remaining philtrum helps to provide adequate tissue that matches the contralateral, noncleft side. Advancement of the lateral tissue reconstructs the affected philtrum, thus providing lip continuity. Medialization of the base of the nose, as well as further soft tissue dissection of the nose, results in a symmetric reconstruction. Reapproximation of the orbicularis oris muscle provides oral competence. Further soft tissue arrangement in the nasal floor allows final closure of the lip and nose. Surgical details are found in several references.19–21 A potential shortcoming of the rotation-advancement technique is the inability to provide adequate philtral length despite aggressive downward rotation of this tissue. This may result in the high point of the cupid’s bow on the cleft side being located in a position higher than on the noncleft side. Some of the more commonly used modifications of the rotation-advancement technique are the Mohler repair, the Noordoff vermilion flap, and the triangular advancement flap, although the details of these techniques are beyond the scope of this chapter (see the referenced articles for more complete descriptions).22–24 Another technique for unilateral cleft lip repair is the triangular flap technique (also known as the Tennison repair), introduced by Charles Tennison in 1952. Tennison approached the lack of central soft tissue of the cleft in a very different fashion than Millard. In this technique lip length is achieved by designing a triangular flap of the lateral, cleft side, which then inserts into a cut of the medial, noncleft side, thus providing the extra tissue for appropriate lip height. The muscle is repaired, as in the rotation-advancement technique, followed by reconstruction of the floor of the nose (full surgical details are found in the references).25,26 Shortcomings of the Tennison repair include placement of the scar in a nonanatomic location, thus drawing attention to the repair, as well as an overly long lip, depending on the size of the triangular flaps.
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UNDERSTANDING AND CARING FOR CHILDREN WITH CLEFT LIP AND PALATE
Bilateral Cleft Lip Repair Bilateral cleft lip repairs are especially challenging because of a central lack of soft tissue, and the anterior displacement of the premaxilla, which functionally increases the transverse width of cleft defect. Many surgeons use presurgical orthopedics to decrease premaxillary protrusion, thus increasing the columellar length and nasal tip projection. This technique also decreases the distance of the cleft, potentially making surgical repair easier for the surgeon (Fig. 54-7). The primary goals of surgery include lip and nasal symmetry, which is achieved through the creation of a philtral column, including the
703
cupid’s bow, reapproximation of the orbicularis oris, repositioning the nasal alar cartilages, lengthening the columella, and closure of the nasal floor (Fig. 54-8). The absence of the philtral column and cupid’s bow is especially problematic since these structures are difficult to replicate in a repair. Postoperatively, these imperfections can be quite noticeable at conversational distances.27 Realistically, patients with bilateral cleft lips will ultimately require revisional surgeries to correct the secondary stigmata of the repair, which include a shortened columella, blunted nasal tip, widened nasal ala, and a widened philtrum.
CLEFT PALATE SURGICAL REPAIR
FIGURE 54-7 Nasoalveolar mold (presurgical orthopedics) for bilateral cleft lip, designed to align the alveolar segments, as well as realign the premaxilla into a more anatomic position.
Following surgical repair of the lip, repair of the palate is generally performed between 9 to 12 months of age. The choice of techniques for palate repair depends on the type of cleft. Recent surveys show that the most commonly used techniques are the Bardach two-flap palatoplasty (45%) (Fig. 54-9) and the Furlow palatoplasty (42%) (Fig. 54-10); the Veau-Ward-Kilner (VWK) pushback (Fig. 54-11) and the von Langenbeck (Fig. 54-12) techniques, although less common, are also used.28 The common denominators for all of these techniques are repair in three layers (nasal mucosa, muscle layer of the soft palate, and the oral mucosa), and anatomic repositioning of the soft palate musculature. Bilateral cleft palate repair is similar in principle in that a three-layer repair is achieved (Fig. 54-13). See the references for complete descriptions of these techniques.29
FIGURE 54-8 Schematic of the steps involved with a bilateral cleft lip repair. Re-creation of the columella, dissection of the muscle in the lateral lip elements, re-creation of the nasal floor, reapproximation of the lateral lip muscle, and insetting of the nasal alar bases with trimming of skin for final closure are all integral parts of bilateral cleft lip repair.
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FIGURE 54-9 The Bardach two-flap palatal reconstruction consists of elevating the palatal mucosa off the hard palate bone as a flap, elevation of the nasal mucosa, and closure of these two layers separately for the hard palate. Pedicles for the mucosal flaps come from the greater palatine arteries posteriorly. Closure of the soft palate is a three-layer repair, including a nasal mucosal layer, muscle layer (levator veli palatini and tensor veli palatini realignment), and oral mucosal layer.
FIGURE 54-10 The double opposing Z-plasty, (Furlow palatoplasty) of the soft palate includes realignment of the levator and tensor veli palatine muscles in the form of Z-plasty. One flap has oral mucosa only, whereas the contralateral side has oral mucosa and muscle. The nasal layer consists of a separate nasal mucosal layer, which is on the side with oral mucosa and muscle flap, and the contralateral side has nasal mucosa and muscle. Closure of both layers in a double opposing Z-plasty assists in elongating the soft palate, which should subsequently improve palatal speech function.
FIGURE 54-11 The Veau-Ward-Kilner repair consists of advancing the oral mucosal flaps posteriorly to allow closure of the hard palate. Muscle realignment of the soft palate assists in palatal function.
Muscle repair is integral to the palate’s primary function, namely speech. Any repair that does not address the muscle will fail in the development of normal speech.30 As previously noted, the levator veli palatine and the tensor veli palatine are the two most integral muscles in producing a functional palate. Detaching these muscles from their abnormal insertions to the remnant shelves of the posterior hard palate, and then reapproximating them to each other in a transverse palatal sling, is referred to as an intravelar veloplasty. Failure to perform this step will result in a nonfunctional palate.
Multidisciplinary Care ------------------------------------------------------------------------------------------------------------------------------------------------
Patients with orofacial clefts require multidisciplinary care that is provided by plastic surgeons, otolaryngologists, dentists, orthodontists, oral surgeons, geneticists, audiologists, and speech and language pathologists. This team approach yields more comprehensive and coordinated care, which benefits the patient.31–33 Longitudinal follow-up in a team environment is mandatory, because many issues, including the ability
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FIGURE 54-12 The von Langenbeck repair consists of relaxing incisions on the lateral palate with subsequent advancement to midline, allowing a palatal repair of both mucosa and muscle layers. Benefits include keeping a bipedicled flap; however, the advancement can be limited and inadequate with wider cleft defects.
FIGURE 54-13 Closure of bilateral cleft palate follows in the same principles. Nasal mucosal layers are dissected off the vomer and palatine shelves and closed. Dissection of the hard palate oral mucosa allows closure separately, thus providing a two-layer closure. The soft palatal muscles are dissected and realigned to provide palatal function.
to produce normal speech, and dental eruption, continue to evolve as the patient grows. Care of the cleft patient begins prenatally when a screening ultrasound makes the initial diagnosis. Ideally, counseling with the family begins during the perinatal period, and focuses on potential feeding concerns postnatally, the time line for surgical repair of the clefts, and team-centered care. In the neonatal period, feeding is the primary concern, especially in children with clefts of the palate. Appropriate weight gain must be monitored, as well as the family’s overall psychological comfort with the child’s cleft. A genetic evaluation, looking for evidence of associated anomalies and syndromes, and further counseling within a cleft team, prepare the family for the ongoing care of their child.
Secondary Cleft Management ------------------------------------------------------------------------------------------------------------------------------------------------
Although patients with cleft lip and palate undergo initial repair of their clefts in the first 12 to 18 months of life, these patients will ultimately require further surgical interventions. Nasal and lip revision, if needed, can be pursued at 5 years of
age, which coincides with greater self-awareness of physical differences, and exposure to an expanding group of peers in school. Between the ages of 7 and 9 years, during the period of mixed dentition (when the adult lateral incisor is ready to erupt through the area of the alveolar cleft), a bone graft generally harvested from the hip, is required in the alveolar cleft. The new bone allows eruption of the lateral incisor, and completes the continuity of the maxilla. Both before and after the bone graft, additional dental and orthodontic work may be required to align the teeth in normal anatomic position. At facial skeletal maturity, generally at 15 years of age for females and 17 to 19 years of age for males, orthognathic surgery, with surgical movement of the maxilla, mandible, or both, may be required to achieve normal occlusion, overall facial appearance and profile. During the teenage years, further revisions of the lip and nose may be required to give these patients the desired aesthetic outcome that prepares them for adult life. Velopharyngeal insufficiency (VPI) is the condition in which the repaired cleft palate is physically incapable of isolating the nasopharynx from the oropharynx, resulting in
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air escape through the nose during speech. The patient with VPI has a nasal quality to his or her speech. Usually the most affected sounds are plosives, /p/ and /b/, in words such a “papa” and “buggy.” In a patient with VPI, the pressure is dissipated through the nose, making these sounds more nasal in quality: “mama” and “muggy.” Depending on the severity of the condition, VPI can range from being barely audible to rendering speech unintelligible. VPI usually occurs in patients whose palates are short and scarred or who have an inadequately functioning soft palate muscle sling. The advent of VPI is usually noticed as children become more verbal, between 3 and 5 years of age. Another time period during which VPI may arise is during tonsillar and adenoid regression. As these tissues atrophy, the nasopharyngeal and oropharyngeal spaces enlarge; a marginally functional soft palate may no longer be able to seal the nasopharynx from the oropharynx, resulting in VPI. Because of these ongoing changes, vigilance for VPI must be maintained throughout a child’s growth and development. In patients suspected of VPI, evaluation by a speech therapist is vital in determining whether additional speech
therapy or surgical intervention is required. Nasoendoscopy and video-fluoroscopy may be required to determine the degree of soft palate incompetence, which in turn helps to determine the optimal surgical technique to correct the child’s VPI.
Conclusions ------------------------------------------------------------------------------------------------------------------------------------------------
Cleft lip and palate can be visually and functionally devastating to a child. Multispecialty and interdisciplinary team care is both ideal and necessary for the care of these children because of the complexity of the anomalies and the longitudinal nature of cleft care. Establishing rapport with patients and their families, as well as among team specialists, can lead to lifechanging differences in patients with clefts, allowing them to lead normal, productive lives, as well as making the formidable problems of cleft care rewarding to treat. The complete reference list is available online at www. expertconsult.com.
Etiology ------------------------------------------------------------------------------------------------------------------------------------------------
CHAPTER 54
Understanding and Caring for Children with Cleft Lip and Palate James Y. Liau, John A. van Aalst, and A. Michael Sadove
Epidemiology ------------------------------------------------------------------------------------------------------------------------------------------------
The incidence of orofacial clefting varies among racial backgrounds. Because of the close association between cleft lip and palate, the presence of cleft lip is often described as being with or without cleft palate. Worldwide prevalence of cleft lip and palate is 1 per 700 live births.1 People of African descent have the lowest incidence of cleft lip with/without cleft palate at 0.5 per 1000 live births, followed by whites (1 per 1000 live births), and Asians (1.3 per 1000 per live births). Overall, an isolated cleft lip makes up approximately 21% of all patients with cleft lip and palate. Unilateral clefts are roughly 9 times more prevalent than bilateral cleft lips, and males are more affected than females. The U.S. incidence of cleft palate alone ranges from 0.3 to 0.5 per 1000 live births.2 A child with a cleft lip with or without cleft palate has an approximately 30% chance of having an associated syndrome; interestingly, a child with an isolated cleft palate has a 50% incidence of an associated syndrome.2,3 Because of this association, genetic
Genetic and environmental factors have both been associated with clefting. If other family members are affected by a cleft, offspring have an increased chance of being affected. For example, if a family already has a child with a cleft, or one parent has a cleft, the chance that the next child will have a cleft is 4%; with two affected children, the chance that a third child will have a cleft increases to 9%. The probability increases to 17% in a family if both a child and parent have a cleft.4 This increase in frequency is seen in spontaneous clefting not associated with syndromes. There are some syndromes in which clefting can be passed down in an autosomal dominant fashion, such as van der Woude syndrome, where presence of the cleft palate is an autosomal dominant trait. Environmental causes of clefting include the use of anticonvulsants, including phenytoin, which is associated with 10-fold increase in clefting; maternal smoking increases the incidence twofold. Other environmental influences, such as alcohol use, the use of retinoic acid, and dietary causes, including zinc and folate deficiencies, can cause syndromes with clefting; however, these are not directly linked to isolated cleft lip/palate. People with certain genotypes are more susceptible to certain environmental exposures; hence, women with less efficient methyl tetrahydrofolate reductase enzymes are more prone to clefting in the face of folic acid deficiency.5–12
Embryology ------------------------------------------------------------------------------------------------------------------------------------------------
Basic understanding of midface and palatal embryologic development helps elucidate the pathoanatomy of cleft lip with or without palate. Orofacial clefting occurs when there is failure of fusion of maxillofacial structures migrating from lateral to medial during the initial 4 to 10 weeks of embryonic development. A key anterior–posterior embryologic and anatomic landmark in understanding clefts is the incisive foramen. The structures that form anterior to the foramen ultimately develop into the nose, lip, and alveolus; embryologically, these structures form first and are designated as the primary palate. The structures that form posterior to the foramen become the hard palate and soft palate, and are referred to as the secondary palate, because they fuse secondarily. Clefting of the lip (primary palate) occurs when the nasomedial and nasolateral prominences of the frontonasal prominence do not meet with the maxillary prominence (Fig. 54-1, A). Clefting of the palate (secondary palate) occurs when the lateral palatine shelves do not elevate and fuse at the midline to each other or to the primary palate (Fig. 54-1, B). Because the development of this craniofacial area is complex, deformities can occur at multiple points along the embryologic time line, resulting in a full spectrum or combination of anomalies.
Anatomy ------------------------------------------------------------------------------------------------------------------------------------------------
UNILATERAL CLEFT LIP A cleft lip affects the anatomy of the lip, philtrum, nose, as well as the alveolus, depending on the severity of the defect. Microform clefts are the mildest form of clefting, involving 699
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Primary palate Nasolateral
Nasomedial
Incisor foramen
Secondary plate
A
Maxillary prominence
B Lateral palatine shelves
FIGURE 54-1 A, The nasolateral and nasomedial prominence fuse to make the lip and nose. Lack of fusion between the maxillary nasal prominence with the nasomedial prominence will yield a cleft lip. B, The lateral palatine shelves fuse in the midline, thus forming the secondary palate. The primary palate fuses posteriorly with the palatine shelves to form a complete palate.
the vermillion and white roll, and can be quite subtle (Fig. 54-2, A). Incomplete clefts are associated with absence of skin, mucosa, and orbicularis muscle but have a retained webbing of skin across the floor of the nasal aperture, referred to as a Simonart band (Fig. 54-2, B). A complete unilateral cleft involves the alveolus, and can be associated with a cleft of the palate (Fig. 54-2, C). The most obvious deformity involving a cleft lip is discontinuity of the lip itself. However further analysis of the defect demonstrates deviation of the nasal septum and columella, as
well as widening or flattening of the cleft-side nasal cartilage. Other defects include the lack of nasal floor and discontinuity of the lip, muscle, and the alveolar ridge. Successful surgical correction of the lip must address all of these structures.
BILATERAL CLEFT LIP Bilateral clefts have a two-sided discontinuity of the lip, with a central portion, the premaxilla, which is discontinuous from either of the lateral segments. The premaxilla contains
B
A
C FIGURE 54-2 A, Microform cleft can be seen with mild notching of the lip’s vermilion along with the minimal distortion of the nose. B, Incomplete cleft has some webbing across the cleft with some retention of the lateral nose; however, the skin across the cleft is devoid of orbicularis oris muscle and is functionless. This skin is also called a Simonart band. C, Complete cleft lip has lateralization of the lip and lateral nasal element. Notice the deviation of the nasal columella and philtrum away from the cleft, and the flattened nose on the cleft side. This picture also demonstrates the clefting of the palate, which allows an unobstructed view into the nasal airway.
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CLEFT PALATE
A
B FIGURE 54-3 A, Bilateral cleft lip with a Simonart band transversing both clefts. B, Complete bilateral cleft lip. The midline protuberance is called the premaxilla and is much more protruding than an incomplete bilateral cleft; tethering of the Simonart bands help in keeping the premaxilla in a more anatomic position. Absence, or shortening of the columella, widening of the alar bases, and anterior projection of the premaxilla are all trademarks of bilateral cleft lips.
elements of skin, mucosa and bone, which can be asymmetrically deviated to one side or the other, and can be anteriorly positioned, depending on the severity of the deformity. Bilateral clefts can be incomplete with Simonart bands (Fig. 54-3, A), or complete with defects that proceed through the alveolar ridges (Fig. 54-3, B). A central feature of the bilateral cleft lip deformity is depression of the nasal tip, a shortened columella, and widely splayed alae.
Clefts of the palate can exist with clefts of the lip or may be present alone. Anatomically, the hard palate begins immediately posterior to the incisive foramen, with embryologic fusion of the palate from anterior to posterior. Hence, an isolated cleft of the soft palate may exist; however, an isolated cleft of the hard palate cannot. A complete cleft of the secondary palate includes both the hard and soft palate, extending anteriorly from the incisive foramen to the uvula, and this can be bilateral as well (Fig. 54-4). The primary function of the palate is to separate the oral cavity from the nasal cavity. This function is lost in the presence of a cleft. The function of the soft palate is primarily speech related and dependent on five paired muscles, the two most important of which are the levator veli palatini and the tensor veli palatini. Ordinarily, these muscles form a transverse sling enabling the palate to rise and move posteriorly to close the oropharynx from the nasopharynx. In a cleft palate, these muscles abnormally insert onto the posterior shelf of the hard palate, and as a consequence, the palate is deficient in its ability to seal off the oropharynx from the nasopharynx. A submucous cleft is the most minor expression of the clefting spectrum. The soft palate mucosa is actually intact, but split posteriorly, resulting in a bifid uvula; there is a midline lucency in the soft palate, referred to as a zona pellucidum, which is a muscle diastasis, and a notch at the midline, posterior edge of the hard palate.13 As in a full cleft, the levator and tensor veli palatine abnormally insert onto the posterior hard palate, preventing the soft palate from moving appropriately during speech, potentially leading to nasal sounding speech. The incidence of submucous clefts is roughly 1 in 1,200 to 2,000; however, this is likely an underestimation, because many patients may not seek treatment or even know of their submucous cleft unless there is functional speech deficit.14
Treatment Protocols ------------------------------------------------------------------------------------------------------------------------------------------------
The timing for cleft lip repair in the United States is generally between 3 to 6 months of age. Depending on the severity of the deformity, various forms of presurgical orthopedics can be used to prepare the child for lip surgery. In general, the goals of these techniques are to improve the alignment of the alveolar segments, decrease the size of the soft tissue cleft, and to
FIGURE 54-4 The figure on the left depicts a cleft of the secondary palate only; there is an intact hard palate. The middle figure depicts a complete unilateral cleft. The figure on the right depicts a complete bilateral cleft.
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A
FIGURE 54-6 lip repair).
B FIGURE 54-5 A, A unilateral cleft lip prior to nasoalveolar molding (NAM) has a wide alveolar cleft, slumping of the nasal cartilage on the cleft side, and lateralization of the alar base of the cleft side. B, Nasoalveolar molding assists in realigning the alveolar segments, reshaping the slumping nasal cartilage of the cleft side, and medializing the alar base of the cleft side.
improve the symmetry of the nose. The simplest form is a taping regimen (literally from cheek to cheek) that helps to pull the two sides of the clefts together, with the goal of narrowing the cleft and realigning the tissues in an anterior-posterior dimension. Some centers also use a technique termed nasoalveolar molding (NAM) to address the three major components of the cleft deformity (Fig. 54-5). NAM addresses the slumping of the nasal alar cartilage, helps realign the alveolar ridges, and brings the soft tissue of the lips into closer proximity.15,16
CLEFT LIP SURGICAL REPAIR Unilateral There are multiple surgical techniques for cleft lip repair. A recent survey of U.S. cleft surgeons found three predominant surgical techniques for unilateral cleft lip repair: the Millard rotation-advancement technique (46%), the Millard rotation-advancement technique with modifications (38%), and triangular flap techniques (9%).17 Techniques for bilateral cleft lip repair include variations of techniques introduced by Millard and by Mulliken.18 In a unilateral cleft lip, there is absence of central tissue of the lip and philtrum, as well as of the nasal columella, depending on the severity of the cleft. The overall goals of surgery are restoration of lip continuity, which starts with functional orbicularis oris muscle reapproximation, establishing symmetry of the lip (especially at the central cupid’s bow) and nose, with aesthetic placement of scars in anatomic subunits. The rotation-advancement repair, as described by Dr. Ralph Millard
Markings for the rotation-advancement lip repair (Millard
in 1976, addresses all of these goals (Fig. 54-6). Because there is a paucity of tissue medial to the cleft, the downward rotation of the remaining philtrum helps to provide adequate tissue that matches the contralateral, noncleft side. Advancement of the lateral tissue reconstructs the affected philtrum, thus providing lip continuity. Medialization of the base of the nose, as well as further soft tissue dissection of the nose, results in a symmetric reconstruction. Reapproximation of the orbicularis oris muscle provides oral competence. Further soft tissue arrangement in the nasal floor allows final closure of the lip and nose. Surgical details are found in several references.19–21 A potential shortcoming of the rotation-advancement technique is the inability to provide adequate philtral length despite aggressive downward rotation of this tissue. This may result in the high point of the cupid’s bow on the cleft side being located in a position higher than on the noncleft side. Some of the more commonly used modifications of the rotation-advancement technique are the Mohler repair, the Noordoff vermilion flap, and the triangular advancement flap, although the details of these techniques are beyond the scope of this chapter (see the referenced articles for more complete descriptions).22–24 Another technique for unilateral cleft lip repair is the triangular flap technique (also known as the Tennison repair), introduced by Charles Tennison in 1952. Tennison approached the lack of central soft tissue of the cleft in a very different fashion than Millard. In this technique lip length is achieved by designing a triangular flap of the lateral, cleft side, which then inserts into a cut of the medial, noncleft side, thus providing the extra tissue for appropriate lip height. The muscle is repaired, as in the rotation-advancement technique, followed by reconstruction of the floor of the nose (full surgical details are found in the references).25,26 Shortcomings of the Tennison repair include placement of the scar in a nonanatomic location, thus drawing attention to the repair, as well as an overly long lip, depending on the size of the triangular flaps.
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Bilateral Cleft Lip Repair Bilateral cleft lip repairs are especially challenging because of a central lack of soft tissue, and the anterior displacement of the premaxilla, which functionally increases the transverse width of cleft defect. Many surgeons use presurgical orthopedics to decrease premaxillary protrusion, thus increasing the columellar length and nasal tip projection. This technique also decreases the distance of the cleft, potentially making surgical repair easier for the surgeon (Fig. 54-7). The primary goals of surgery include lip and nasal symmetry, which is achieved through the creation of a philtral column, including the
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cupid’s bow, reapproximation of the orbicularis oris, repositioning the nasal alar cartilages, lengthening the columella, and closure of the nasal floor (Fig. 54-8). The absence of the philtral column and cupid’s bow is especially problematic since these structures are difficult to replicate in a repair. Postoperatively, these imperfections can be quite noticeable at conversational distances.27 Realistically, patients with bilateral cleft lips will ultimately require revisional surgeries to correct the secondary stigmata of the repair, which include a shortened columella, blunted nasal tip, widened nasal ala, and a widened philtrum.
CLEFT PALATE SURGICAL REPAIR
FIGURE 54-7 Nasoalveolar mold (presurgical orthopedics) for bilateral cleft lip, designed to align the alveolar segments, as well as realign the premaxilla into a more anatomic position.
Following surgical repair of the lip, repair of the palate is generally performed between 9 to 12 months of age. The choice of techniques for palate repair depends on the type of cleft. Recent surveys show that the most commonly used techniques are the Bardach two-flap palatoplasty (45%) (Fig. 54-9) and the Furlow palatoplasty (42%) (Fig. 54-10); the Veau-Ward-Kilner (VWK) pushback (Fig. 54-11) and the von Langenbeck (Fig. 54-12) techniques, although less common, are also used.28 The common denominators for all of these techniques are repair in three layers (nasal mucosa, muscle layer of the soft palate, and the oral mucosa), and anatomic repositioning of the soft palate musculature. Bilateral cleft palate repair is similar in principle in that a three-layer repair is achieved (Fig. 54-13). See the references for complete descriptions of these techniques.29
FIGURE 54-8 Schematic of the steps involved with a bilateral cleft lip repair. Re-creation of the columella, dissection of the muscle in the lateral lip elements, re-creation of the nasal floor, reapproximation of the lateral lip muscle, and insetting of the nasal alar bases with trimming of skin for final closure are all integral parts of bilateral cleft lip repair.
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FIGURE 54-9 The Bardach two-flap palatal reconstruction consists of elevating the palatal mucosa off the hard palate bone as a flap, elevation of the nasal mucosa, and closure of these two layers separately for the hard palate. Pedicles for the mucosal flaps come from the greater palatine arteries posteriorly. Closure of the soft palate is a three-layer repair, including a nasal mucosal layer, muscle layer (levator veli palatini and tensor veli palatini realignment), and oral mucosal layer.
FIGURE 54-10 The double opposing Z-plasty, (Furlow palatoplasty) of the soft palate includes realignment of the levator and tensor veli palatine muscles in the form of Z-plasty. One flap has oral mucosa only, whereas the contralateral side has oral mucosa and muscle. The nasal layer consists of a separate nasal mucosal layer, which is on the side with oral mucosa and muscle flap, and the contralateral side has nasal mucosa and muscle. Closure of both layers in a double opposing Z-plasty assists in elongating the soft palate, which should subsequently improve palatal speech function.
FIGURE 54-11 The Veau-Ward-Kilner repair consists of advancing the oral mucosal flaps posteriorly to allow closure of the hard palate. Muscle realignment of the soft palate assists in palatal function.
Muscle repair is integral to the palate’s primary function, namely speech. Any repair that does not address the muscle will fail in the development of normal speech.30 As previously noted, the levator veli palatine and the tensor veli palatine are the two most integral muscles in producing a functional palate. Detaching these muscles from their abnormal insertions to the remnant shelves of the posterior hard palate, and then reapproximating them to each other in a transverse palatal sling, is referred to as an intravelar veloplasty. Failure to perform this step will result in a nonfunctional palate.
Multidisciplinary Care ------------------------------------------------------------------------------------------------------------------------------------------------
Patients with orofacial clefts require multidisciplinary care that is provided by plastic surgeons, otolaryngologists, dentists, orthodontists, oral surgeons, geneticists, audiologists, and speech and language pathologists. This team approach yields more comprehensive and coordinated care, which benefits the patient.31–33 Longitudinal follow-up in a team environment is mandatory, because many issues, including the ability
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FIGURE 54-12 The von Langenbeck repair consists of relaxing incisions on the lateral palate with subsequent advancement to midline, allowing a palatal repair of both mucosa and muscle layers. Benefits include keeping a bipedicled flap; however, the advancement can be limited and inadequate with wider cleft defects.
FIGURE 54-13 Closure of bilateral cleft palate follows in the same principles. Nasal mucosal layers are dissected off the vomer and palatine shelves and closed. Dissection of the hard palate oral mucosa allows closure separately, thus providing a two-layer closure. The soft palatal muscles are dissected and realigned to provide palatal function.
to produce normal speech, and dental eruption, continue to evolve as the patient grows. Care of the cleft patient begins prenatally when a screening ultrasound makes the initial diagnosis. Ideally, counseling with the family begins during the perinatal period, and focuses on potential feeding concerns postnatally, the time line for surgical repair of the clefts, and team-centered care. In the neonatal period, feeding is the primary concern, especially in children with clefts of the palate. Appropriate weight gain must be monitored, as well as the family’s overall psychological comfort with the child’s cleft. A genetic evaluation, looking for evidence of associated anomalies and syndromes, and further counseling within a cleft team, prepare the family for the ongoing care of their child.
Secondary Cleft Management ------------------------------------------------------------------------------------------------------------------------------------------------
Although patients with cleft lip and palate undergo initial repair of their clefts in the first 12 to 18 months of life, these patients will ultimately require further surgical interventions. Nasal and lip revision, if needed, can be pursued at 5 years of
age, which coincides with greater self-awareness of physical differences, and exposure to an expanding group of peers in school. Between the ages of 7 and 9 years, during the period of mixed dentition (when the adult lateral incisor is ready to erupt through the area of the alveolar cleft), a bone graft generally harvested from the hip, is required in the alveolar cleft. The new bone allows eruption of the lateral incisor, and completes the continuity of the maxilla. Both before and after the bone graft, additional dental and orthodontic work may be required to align the teeth in normal anatomic position. At facial skeletal maturity, generally at 15 years of age for females and 17 to 19 years of age for males, orthognathic surgery, with surgical movement of the maxilla, mandible, or both, may be required to achieve normal occlusion, overall facial appearance and profile. During the teenage years, further revisions of the lip and nose may be required to give these patients the desired aesthetic outcome that prepares them for adult life. Velopharyngeal insufficiency (VPI) is the condition in which the repaired cleft palate is physically incapable of isolating the nasopharynx from the oropharynx, resulting in
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air escape through the nose during speech. The patient with VPI has a nasal quality to his or her speech. Usually the most affected sounds are plosives, /p/ and /b/, in words such a “papa” and “buggy.” In a patient with VPI, the pressure is dissipated through the nose, making these sounds more nasal in quality: “mama” and “muggy.” Depending on the severity of the condition, VPI can range from being barely audible to rendering speech unintelligible. VPI usually occurs in patients whose palates are short and scarred or who have an inadequately functioning soft palate muscle sling. The advent of VPI is usually noticed as children become more verbal, between 3 and 5 years of age. Another time period during which VPI may arise is during tonsillar and adenoid regression. As these tissues atrophy, the nasopharyngeal and oropharyngeal spaces enlarge; a marginally functional soft palate may no longer be able to seal the nasopharynx from the oropharynx, resulting in VPI. Because of these ongoing changes, vigilance for VPI must be maintained throughout a child’s growth and development. In patients suspected of VPI, evaluation by a speech therapist is vital in determining whether additional speech
therapy or surgical intervention is required. Nasoendoscopy and video-fluoroscopy may be required to determine the degree of soft palate incompetence, which in turn helps to determine the optimal surgical technique to correct the child’s VPI.
Conclusions ------------------------------------------------------------------------------------------------------------------------------------------------
Cleft lip and palate can be visually and functionally devastating to a child. Multispecialty and interdisciplinary team care is both ideal and necessary for the care of these children because of the complexity of the anomalies and the longitudinal nature of cleft care. Establishing rapport with patients and their families, as well as among team specialists, can lead to lifechanging differences in patients with clefts, allowing them to lead normal, productive lives, as well as making the formidable problems of cleft care rewarding to treat. The complete reference list is available online at www. expertconsult.com.