Craniofacial Anomalies, Part 2 - Plastic Surgery Internal

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CENTRIC Corresponding Cranial Facial Clefts Extension of Facial Clefts No. 0 No. 14 No. 1 No. 13 No. 2 No. 12 No. 3 No. 11 ACENTRIC Corresponding Cranial Facial Clefts Extension of Facial Clefts No. 4 No. 10 No. 5 No. 9 No. 6 No. 7 No. 8 Fig 2. Tessier’s classification of craniofacial clefts. Localization on the soft tissues (above) and skeleton (below). (Reprinted with permission from Tessier P: Anatomical classification of facial, cranio-facial, and latero-facial clefts. J Maxillofac Surg 4:69, 1976; list from Whitaker LA, Pashayan H, and Reichman J: A proposed new classification of craniofacial anomalies. Cleft Palate J 18:161, 1981.) where skeletal cleft and soft-tissue cleft are not in the same position. Nevertheless, Tessier’s scheme remains in wide use today because it is relatively easy to learn for communicating with other clinicians. David et al 12 illustrate a complete series of these craniofacial clefts in 3D CT scans. SRPS Volume 10, Number 17, Part 2 The tissue-deficiency disorders—arhinencephaly and holoprosencephaly—are secondary to failure of cleavage of the embryonic holoprosencephalon and of the normal longitudinal split into cerebral hemispheres. The tissue-excess deformities range from a slight midline notch of the upper lip to severe orbital hypertelorism. The holoprosencephaly malformation represents a hypoplastic No. 14 cleft in association with a tissue deficiency or a tissue excess. 13,14 Cohen and Sulik 15 present a modern analytic review of the holoprosencephalic disorders. Central nervous system findings and craniofacial anatomy are discussed, syndromes and associated anomalies are updated, and the differential diagnosis is reviewed. Elias, Kawamoto, and Wilson 16 reviewed holoprosencephaly and midline facial anomalies in an attempt to redefine their classification and management. They note that true holoprosencephaly encompasses a series of midline defects of the brain and face, and in most cases is associated with severe malformations of the brain which are incompatible with life. At the other end of the spectrum are patients with midline facial defects and normal or near-normal brain development. Embryologic Classification Van der Meulen and coworkers13 tried to correlate clinical features of the disorders with embryologic events. Site of dysplasia/dysostosis and associated cleft: Frontosphenoidal = Tessier 9 Frontal dysplasia = Tessier 10 and 11 Interfrontal dysplasia = Tessier 0 and 14 Treacher Collins = 6, 7, and 8 clefts Temporoauromandibular dysplasia = Hemifacial microsomia (craniofacial microsomia) Pathogenesis of Clefts There are two leading theories of facial cleft formation. The classic theory holds that clefts are caused by failure of fusion of the facial processes. 17-19 In this theory the medial face unites by fusion of the paired facial processes beneath the nasal pits. Epithelial contact is established and mesenchymal penetration completes the fusion of the lip and palate. If the sequence is disturbed, a cleft forms. 3
SRPS Volume 10, Number 17, Part 2 The mesodermal penetration theory states that the edges of the facial processes consist of a bilaminar membrane of ectoderm with epithelial seams demarcating the major process. 20-23 Mesenchymal cells then penetrate the layers and smooth out the seams. If the mesenchymal penetration fails, the epithelium dehisces and a cleft results. The severity of the cleft is proportional to the amount of mesodermal penetration. Management of Facial Clefts By far the most common craniofacial anomaly is cleft of the lip/palate, followed by isolated cleft palate as a distant second. These topics have been discussed in detail in Selected Readings in Plastic Surgery volume 10, number 16, 24 and will not be addressed further here. The incidence of rare clefts is estimated at 1.4–4.9 per 100,000 live births. 25 Reconstruction focuses initially on soft-tissue closure25 with excision of the free borders of the cleft to normal tissue, followed by meticulous layered soft-tissue closure. Van der Meulen26 offers a thorough review of the pathology, etiology, and reconstruction of oblique facial clefts. He agrees with Tessier’s principle of combining skeletal and soft-tissue realignment in one major surgical procedure. Resnick and Kawamoto, 27 Galante and Dado, 28 and Fuente del Campo29 give specific recommendations for the treatment of unusual facial clefts on the basis of their respective experiences with Tessier’s Nos. 4, 5, and 8 clefts. Menard30 describes the application of tissue expansion in the soft-tissue closure of facial clefts in 8 patients. Due to underlying bony hypoplasia, skeletal reconstruction is often necessary when the child is older. 25 There are multiple approaches to cleft repair, timing of repair, and technique of reconstruction. Although several protocols have been suggested, these should be viewed as guidelines, not absolute directives for care. The variability in approaches mirrors the extreme variability in congenital clefts, dysplasias, and dysostoses. A few in-depth details and reconstructive algorithms will be presented for the more common abnormalities, including craniofacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, Nager syndrome, Binder syndrome, Pierre Robin sequence, and encephaloceles. 4 CRANIOFACIAL MICROSOMIA Craniofacial or hemifacial microsomia is the term most frequently used to describe the first and second branchial arch syndrome, which is defined as a Tessier 7 atypical facial cleft. Thomson31 was the first to suggest in 1843 that the malformation was due to imperfect development of the first two anterior branchial arches. Clinical manifestations are underdevelopment of the external and middle ear, mandible, zygoma, maxilla, temporal bone, facial muscles, muscles of mastication, palatal muscles, tongue, and parotid gland; macrostomia; a first branchial cleft sinus; 31–33 and possible involvement of any or all cranial nerves34,35 (Fig 3). Fig 3. Craniofacial microsomia in a 7-year-old child. (Reprinted with permission from McCarthy JG, Grayson BH: Reconstruction: Craniofacial Microsomia. In Mathis SJ (ed), Plastic Surgery, 2nd ed. Philadelphia, Elsevier, 2006. Vol IV, Ch 103, pp 521-554.) The birth incidence of craniofacial microsomia is approximately 1 in 4000. 35 Approximately 10% of cases are bilateral. 31,36 The etiology is thought to relate to occlusion or thrombosis of the stapedial artery with injury to the developing first and second branchial arches. 35,37 In its fullest expression, the craniofacial microsomia syndrome is made up of a constellation of congenitally malformed facial structures arising from the embryonic first and second
Page 2 and 3: CRANIOFACIAL EMBRYOLOGY To understa
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Page 10 and 11: Fig 5. (Above) The nose and upper l
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Page 26 and 27: Pfeiffer syndrome is inherited as a
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85. Dufresne C: Treacher Collins Sy
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169. Opperman LA, Chhabra A, Cho RW
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247. Sutton LN, Barlett SP, Duhaine
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334. Colen SR: Selective microvascu
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420. Tessier P: Dysostoses cranio-f
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503. Kunz C, Hammer B, Prein J: Man
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