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Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_1120_Библиотеки_им_академика_М_И_Перельмана

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FIGURE 1-13 Sequential schematic representations of the
development of the face in frontal and lateral views of the embryo
from approximately the twenty-fourth day of gestation to 14
weeks' gestation. (From Moore KL, and Persaud TVN: Before we are born [7th
ed]. St. Louis: Elsevier, 2008.)
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FIGURE 1-14 Schematic representation of the difference
between merging and fusion in the embryo. (From Patten MB: Normal
development of the facial region. In Pruzansky S [ed]: Congenital anomalies of the face
and associated structures. Springfield, IL: Charles C Thomas, 1961, p. 15.)
The embryonic structures that form the face begin as the branchial apparatus. This structure is visible on the embryo at the beginning of the
fourth week after conception, and it appears as two rounded ridges on each side of the future head and neck region. The branchial apparatus eventually gives rise to the ears, maxilla, mandible, and anterior portion of the neck. The apparatus consists of paired (one left, one right) external branchial or pharyngeal arches, branchial grooves between the arches (the first branchial groove becomes the external auditory canal),
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internal pharyngeal pouches reaching toward those grooves, and branchial membranes that separate the pouches from the grooves. On the twenty-second day after conception, the first pair of branchial arches is separated by a midline depression that will become the primitive mouth (stomodeum).
By the end of the fourth week of embryonic life, four pairs of arches are visible: the mandibular arch, consisting of an upper maxillary process and a lower mandibular process; the hyoid arch; and third and fourth arches that are designated by number only. Each arch has four elements: an artery, a cartilaginous bar, a muscle element, and a nerve growing into it from the brain.
The frontonasal process forms two median nasal processes between the two nasal pits (visible on the embryo by the thirty-first day of intrauterine life) and two lateral nasal processes that form the nasal alae. Together, the two sets of nasal processes form the upper boundary of the primitive mouth. The lateral boundary is formed by the paired maxillary processes, and the lower boundary is formed by the paired mandibular processes. Development of the nose, nasal floor, upper lip, and palate depends on normal growth and successful joining of the lateral and medial nasal processes and the maxillary processes.
Formation of the Primary Palate
Fusion of the medial nasal processes, the lateral nasal processes, and the paired maxillary processes produces the primary palate, which forms most of the upper lip (roughly the middle two thirds), the corresponding portion of the maxillary alveolar ridge, and the anterior portion of the maxilla back to the incisive foramen. As noted earlier, these portions of the alveolar ridge and hard palate are collectively called the premaxilla (synonymous with the primary palate); the associated portion of the lip is called the prolabium. The nasal septum grows downward and fuses with the palate during the sixth week after conception.
Formation of the Secondary Palate
The secondary palate is formed by the meeting and fusion of the palatine processes or palatal shelves, which are medial projections from the left and
right maxillary processes. The shelves are initially in a vertical position
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in the embryo, hanging down on either side of the tongue. They must elevate over the tongue and reach toward each other as they grow before they can consolidate. The palatal shelves also fuse with the primary palate along the left and right premaxillary sutures and with the nasal septum and vomer bone superiorly. The premaxillary sutures are the “sides” of the V shape of the primary palate. The rest of the hard palate and all of the soft palate comprise the secondary palate. Formation of the secondary palate is complete sometime between the tenth and twelfth weeks of gestation.
Embryology of Clefts
Clefts of the primary palate appear if the lateral nasal processes, median nasal processes, and maxillary processes do not grow to sufficient size at the right time to meet each other or if the fusion between paired processes and associated structures is impeded. Simonart's band, which is a very thin bridge of tissue crossing between segments of a cleft of the primary palate (Fig. 1-15), and congenital fistulas in the secondary palate are interpreted by many scientists to be evidence of postfusion rupture in the embryo.
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FIGURE 1-15 Very thin bridge of soft tissue across an
otherwise complete cleft of the lip and palate. This bridge of
tissue is often called a Simonart's band. On close examination,
one can see that this baby actually has an incomplete bilateral
cleft of the primary palate because the child also has a small
defect of the lip on the right side (not easily seen in this picture)
and a more easily seen but small defect of the alveolus. The cleft
of the secondary palate is quite wide. (From Peterson-Falzone SJ, Hardin-
Jones MA, Karnell MP: Cleft palate speech [4th ed]. St. Louis: Elsevier, 2010.)
Fig. 1-2 is a good example of an incomplete cleft of the primary palate
in a patient with an intact secondary palate. Fig. 1-16 shows a baby with an incomplete cleft of the primary palate but a complete cleft of the secondary palate.
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FIGURE 1-16 Infant with an incomplete unilateral cleft of the lip
and alveolus on the left, but a complete cleft of the secondary
palate. Notice the straight base of the vomer bone in the
midline. (From Peterson-Falzone SJ, Hardin-Jones MA, Karnell MP: Cleft palate
speech [4th ed]. St. Louis: Elsevier, 2010.)
The fusion of the shelves and the formation of the soft palate take place in a front-to-back (anterior-to-posterior) order of progression. Thus the least severe clefts are the minor defects of the uvula, and the most severe defects are the clefts that affect the entire soft palate and hard palate. In many infants with very wide clefts the palatal shelves are still vertical. The normal process of shelf elevation and fusion takes place approximately 1 week later in girls than in boys (Burdi and Silvey,
1969). This timing difference may help explain why girls are more
susceptible to clefts of the secondary palate alone without cleft lips: formation of the secondary palate takes more time in girls, thereby providing more of a time window for adverse effects of environmental agents.
Marazita and Mooney (2004, p. 134) pointed this out: “In humans and
in animal models for cleft palate wide clefts usually result when shelves remain in the vertical position, whereas narrow clefts usually indicate elevated shelves that failed to contact and fuse or that failed to fuse even if contact was made.” Johnston et al. (1990, p. 2539) spoke to the same point: “The fact that so many clefts are incomplete (when contact [between the palatal shelves] is insufficient for complete fusion) indicates that a large number of embryos are siing squarely on the threshold.”
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It is worth noting that, within the subgroups of unilateral CL ± P, bilateral CL ± P, and CPO, the infants with more severe clefts tend to have more associated anomalies. For example, an infant with a complete bilateral cleft lip and palate is more likely to have associated anomalies than an infant with an incomplete bilateral cleft. Babies with CPO are more likely to have associated anomalies than the other two groups, and infants with the wider clefts are more likely to have other defects (or syndromes) than those with smaller clefts.
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A Final Note
In this chapter, we discuss clefts not by classification (many different classification systems are available) but by description of facial and intraoral findings. Classification systems are useless if they are not mutually shared by all professionals caring for the youngster. Some such systems actually confuse overt clefts with submucous clefts and even with noncleft VPI.
The assessment and treatment of the speech problems often found in youngsters with clefts or noncleft VPI can be discussed as nearly one topic because these children have so many of the same needs. That is the approach taken in this book. As you will detect many times throughout the text, we believe that the speech-language pathologist should be second in command (but only with regard to speech!), right after the child's parents.
Good care for a child with a cleft or noncleft VPI starts with knowing what to expect. Very early in the life of that child, his or her caregivers need to know about the likelihood of associated anomalies such as heart and kidney defects, immune deficiencies, ear disease, or developmental problems. That is why it is necessary to document the condition in detail and similarly to document not only speech development and problems but every new development or problem as the child grows.
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References
Burdi AR, Silvey RG. Sexual differences in closure of the human
palatal shelves. Cleft Palate J. 1969;6:1–7.
Calzolari F, Pierini A, Astolfi G, et al. Associated anomalies in
multi-malformed infants with cleft lip and palate: an epidemiologic study of nearly 6 million births in 23 EUROCAT registries. Am J Med Genet. 2007;143:528–537.
Johnston MC, Bronsky PT. Millicovsky G: Embryogenesis of cleft
lip and palate. McCarthy JG. Plastic surgery. Saunders: Philadelphia; 1990:2525–2552. Cleft lip and palate and craniofacial deformities. vol 4.
Jones MC. Etiology of facial clefts: prospective evaluation of 428
patients. Cleft Palate J. 1988;25:16–20.
Jones MC. The genetics of clefting. Presented at the third annual
MUSC craniofacial and cleft anomalies conference. [Charleston, South Carolina; April 13] 2013.
Marazita ML, Mooney MP. Current concepts in the embryology
and genetics of cleft lip and palate. Clin Plast Surg. 2004;31:125–
140.
Melnick M. Cleft lip (+ cleft palate) etiology: a search for solutions.
J Med Genet. 1992;42:10–14.
Peterson-Falzone SJ, Hardin-Jones MA, Karnell MP. Cleft palate
speech. 4th ed. Elsevier: St. Louis; 2010.
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