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Pharyngeal Hypoplasia in Treacher Collins Syndrome

Pharyngeal Hypoplasia in Treacher Collins Syndrome Abstract • Examination of 11 patients with Treacher Collins syndrome (TCS), with the use of multiple-view videofluoroscopy and nasopharyngoscopy of the pharynx, disclosed marked narrowing of the airway. In several patients, the pharynx was less than 1 cm in width at its most narrow point. It is thought that reduced airway in TCS may help to explain the frequent reports of neonatal death associated with the syndrome. Pharyngeal narrowing was found throughout the entire vertical height of the pharynx in all 11 patients. Pharyngeal hypoplasia is probably responsible for reported difficulties in intubating patients with TCS for endotracheal anesthesia and for respiratory complications after palatoplasty and pharyngoplasty. Pharyngeal hypoplasia is considered to be a primary feature of the syndrome and may aid in its diagnosis. (Arch Otolaryngol 105:127-131, 1979) References 1. Axellson A, Brolin I, Engstrom H, et al: Dysostosis mandibulofacialis . J Laryngol Otol 87:575-592, 1963.Crossref 2. Behrents RG, McNamara JA, Avery JK: Prenatal mandibulofacial dysostosis (Treacher Collins syndrome) . Cleft Palate J 14:13-34, 1977. 3. Franceschetti A, Klein D: The mandibulofacial dysostosis, a new hereditary syndrome . Acta Ophthalmol 27:141-224, 1949. 4. Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck , ed 2. New York, McGraw-Hill Book Co Inc, 1976. 5. Smith DW: Recognizable Patterns of Human Malformation , ed 2. Philadelphia, WB Saunders Co, 1976. 6. Book JA, Fraccaro M: Genetical investigations in a North-Swedish population with mandibulo-facial dysostosis . Acta Genet Med Gemellol 5:327-333, 1955. 7. Debussman: Familiäre kombinierte Gesichts-missbildung im Bereich des ersten Visceralbogens . Arch Kinderheilkd 120:133-139, 1940. 8. Fagen LE, Elmore J, Nadler HL: Mandibulo-facial dysostosis . Am J Dis Child 113:405-410, 1967.Crossref 9. Francois J: Heredity in Ophthalmology . St Louis, CV Mosby Co, 1961. 10. Hall JG: Case report D—mandibulo-facial dysostosis . Birth Defects 2:215, 1969. 11. Rogers BO: Berry-Treacher Collins syndrome: A review of 200 cases . Br J Plast Surg 17:109-137, 1964.Crossref 12. Sando I, Hemenway WG, Morgan WR: Histopathology of the temporal bones in mandibulofacial dysostosis . Trans Am Acad Ophthalmol Otolaryngol 72:913-924, 1968. 13. Divekar VM, Sircar BN: Anesthetic management in Treacher-Collins syndrome . Anesthesiology 26:692-693, 1965.Crossref 14. Ross ED: Treacher Collins syndrome: An anesthetic hazard . Anaesthesia 18:350-354, 1963.Crossref 15. Falzone S, Pruzansky S: Cleft palate and congenital palatopharyngeal incompetency in mandibulofacial dysostosis: Frequency and problems in treatment . Cleft Palate J 13:354-360, 1976. 16. Shprintzen RJ, McCall GN, Skolnick ML: A new therapeutic technique for treatment of velopharyngeal incompetence . J Speech Hear Disord 40:70-83, 1975. 17. Skolnick ML: Videovelopharyngography in patients with nasal speech, with emphasis on lateral pharyngeal motion in velopharyngeal closure . Radiology 93:747-755, 1969.Crossref 18. Skolnick ML: Videofluoroscopic examination of the velopharyngeal portal during phonation in lateral and base projections: A new technique for studying the mechanics of closure . Cleft Palate J 7:803-816, 1970. 19. Croft C, Shprintzen RJ, Daniller AI, et al: The occult submucous cleft palate and the musculus uvulae . Cleft Palate J 15:150-154, 1978. 20. Shprintzen RJ, Lencione RM, McCall GN, et al: A three dimensional cinefluoroscopic analysis of velopharyngeal closure during speech and nonspeech activities in normals . Cleft Palate J 11:412-428, 1974. 21. Ainger LE: Large tonsils and adenoids in small children with cor pulmonale . Br Heart J 30:356-362, 1968.Crossref 22. Bland JW, Edwards FK, Brinsfield D: Pulmonary hypertension and congestive heart failure in children with chronic upper airway obstruction . Am J Cardiol 23:830-837, 1969.Crossref 23. Cayler GG, Johnson ED, Lewis BE, et al: Heart failure due to enlarged tonsils and adenoids . Am J Dis Child 118:708-717, 1969.Crossref 24. Cronje RE, Hurman GP, Simson JW: Hypoxaemic pulmonary hypertension in children . S Afr Med J 40:2-7, 1966. 25. Edison BD, Kerth JD: Tonsilloadenoid hypertrophy resulting in cor pulmonale . Arch Otolaryngol 98:205-207, 1973.Crossref 26. Gerald B, Dungan WT: Cor pulmonale from chronic nasopharyngeal obstruction . Surg Forum 18:493-495, 1967. 27. Gresham EL, Armstrong JG: Cardiac failure from tonsillar enlargement: A reminder . Clin Pediatr 10:236, 1971.Crossref 28. Kravath RE, Pollak CP, Borowiecki B: Hypoventilation during sleep in children who have lymphoid airway obstruction treated by nasopharyngeal tube and T and A . Pediatrics 59:865-872, 1977. 29. Levy AM, Tabakin BS, Hanson JS, et al: Hypertrophied adenoids causing pulmonary hypertension and severe congestive heart failure . N Engl J Med 277:506-510, 1967.Crossref 30. Menashe VD, Farrehi C, Miller M: Hypoventilation and cor pulmonale due to chronic upper airway obstruction . J Pediatr 67:198-203, 1965.Crossref 31. Talbot AR, Robertson LW: Cardiac failure with tonsil and adenoid hypertrophy . Arch Otolaryngol 98:277-281, 1973.Crossref 32. Thanopoulos B, Skkos DD, Milingos M, et al: Cardiorespiratory syndrome due to enlarged tonsils and adenoids . Acta Paediatr Scand 64:659-663, 1975.Crossref 33. Weitzman ED, Pollak CP, Borowiecki B, et al: The hypersomnia-sleep apnea syndrome: Site and mechanism of upper airway obstruction , in Guilleminault C, Dement WC (eds): Sleep Apnea Syndromes . New York, Alan R Liss Inc, 1978, chap 15, pp 235-248. 34. Maue-Dickson W, Dickson DR, Rood SR: Anatomy of the Eustachian tube and related structures in age-matched human fetuses with and without cleft palate . Trans Am Acad Ophthalmol Otolaryngol 82:159-163, 1976. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology American Medical Association

Pharyngeal Hypoplasia in Treacher Collins Syndrome

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American Medical Association
Copyright
Copyright © 1979 American Medical Association. All Rights Reserved.
ISSN
0003-9977
DOI
10.1001/archotol.1979.00790150017005
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Abstract

Abstract • Examination of 11 patients with Treacher Collins syndrome (TCS), with the use of multiple-view videofluoroscopy and nasopharyngoscopy of the pharynx, disclosed marked narrowing of the airway. In several patients, the pharynx was less than 1 cm in width at its most narrow point. It is thought that reduced airway in TCS may help to explain the frequent reports of neonatal death associated with the syndrome. Pharyngeal narrowing was found throughout the entire vertical height of the pharynx in all 11 patients. Pharyngeal hypoplasia is probably responsible for reported difficulties in intubating patients with TCS for endotracheal anesthesia and for respiratory complications after palatoplasty and pharyngoplasty. Pharyngeal hypoplasia is considered to be a primary feature of the syndrome and may aid in its diagnosis. (Arch Otolaryngol 105:127-131, 1979) References 1. Axellson A, Brolin I, Engstrom H, et al: Dysostosis mandibulofacialis . J Laryngol Otol 87:575-592, 1963.Crossref 2. Behrents RG, McNamara JA, Avery JK: Prenatal mandibulofacial dysostosis (Treacher Collins syndrome) . Cleft Palate J 14:13-34, 1977. 3. Franceschetti A, Klein D: The mandibulofacial dysostosis, a new hereditary syndrome . Acta Ophthalmol 27:141-224, 1949. 4. Gorlin RJ, Pindborg JJ, Cohen MM Jr: Syndromes of the Head and Neck , ed 2. New York, McGraw-Hill Book Co Inc, 1976. 5. Smith DW: Recognizable Patterns of Human Malformation , ed 2. Philadelphia, WB Saunders Co, 1976. 6. Book JA, Fraccaro M: Genetical investigations in a North-Swedish population with mandibulo-facial dysostosis . Acta Genet Med Gemellol 5:327-333, 1955. 7. Debussman: Familiäre kombinierte Gesichts-missbildung im Bereich des ersten Visceralbogens . Arch Kinderheilkd 120:133-139, 1940. 8. Fagen LE, Elmore J, Nadler HL: Mandibulo-facial dysostosis . Am J Dis Child 113:405-410, 1967.Crossref 9. Francois J: Heredity in Ophthalmology . St Louis, CV Mosby Co, 1961. 10. Hall JG: Case report D—mandibulo-facial dysostosis . Birth Defects 2:215, 1969. 11. Rogers BO: Berry-Treacher Collins syndrome: A review of 200 cases . Br J Plast Surg 17:109-137, 1964.Crossref 12. Sando I, Hemenway WG, Morgan WR: Histopathology of the temporal bones in mandibulofacial dysostosis . Trans Am Acad Ophthalmol Otolaryngol 72:913-924, 1968. 13. Divekar VM, Sircar BN: Anesthetic management in Treacher-Collins syndrome . Anesthesiology 26:692-693, 1965.Crossref 14. Ross ED: Treacher Collins syndrome: An anesthetic hazard . Anaesthesia 18:350-354, 1963.Crossref 15. Falzone S, Pruzansky S: Cleft palate and congenital palatopharyngeal incompetency in mandibulofacial dysostosis: Frequency and problems in treatment . Cleft Palate J 13:354-360, 1976. 16. Shprintzen RJ, McCall GN, Skolnick ML: A new therapeutic technique for treatment of velopharyngeal incompetence . J Speech Hear Disord 40:70-83, 1975. 17. Skolnick ML: Videovelopharyngography in patients with nasal speech, with emphasis on lateral pharyngeal motion in velopharyngeal closure . Radiology 93:747-755, 1969.Crossref 18. Skolnick ML: Videofluoroscopic examination of the velopharyngeal portal during phonation in lateral and base projections: A new technique for studying the mechanics of closure . Cleft Palate J 7:803-816, 1970. 19. Croft C, Shprintzen RJ, Daniller AI, et al: The occult submucous cleft palate and the musculus uvulae . Cleft Palate J 15:150-154, 1978. 20. Shprintzen RJ, Lencione RM, McCall GN, et al: A three dimensional cinefluoroscopic analysis of velopharyngeal closure during speech and nonspeech activities in normals . Cleft Palate J 11:412-428, 1974. 21. Ainger LE: Large tonsils and adenoids in small children with cor pulmonale . Br Heart J 30:356-362, 1968.Crossref 22. Bland JW, Edwards FK, Brinsfield D: Pulmonary hypertension and congestive heart failure in children with chronic upper airway obstruction . Am J Cardiol 23:830-837, 1969.Crossref 23. Cayler GG, Johnson ED, Lewis BE, et al: Heart failure due to enlarged tonsils and adenoids . Am J Dis Child 118:708-717, 1969.Crossref 24. Cronje RE, Hurman GP, Simson JW: Hypoxaemic pulmonary hypertension in children . S Afr Med J 40:2-7, 1966. 25. Edison BD, Kerth JD: Tonsilloadenoid hypertrophy resulting in cor pulmonale . Arch Otolaryngol 98:205-207, 1973.Crossref 26. Gerald B, Dungan WT: Cor pulmonale from chronic nasopharyngeal obstruction . Surg Forum 18:493-495, 1967. 27. Gresham EL, Armstrong JG: Cardiac failure from tonsillar enlargement: A reminder . Clin Pediatr 10:236, 1971.Crossref 28. Kravath RE, Pollak CP, Borowiecki B: Hypoventilation during sleep in children who have lymphoid airway obstruction treated by nasopharyngeal tube and T and A . Pediatrics 59:865-872, 1977. 29. Levy AM, Tabakin BS, Hanson JS, et al: Hypertrophied adenoids causing pulmonary hypertension and severe congestive heart failure . N Engl J Med 277:506-510, 1967.Crossref 30. Menashe VD, Farrehi C, Miller M: Hypoventilation and cor pulmonale due to chronic upper airway obstruction . J Pediatr 67:198-203, 1965.Crossref 31. Talbot AR, Robertson LW: Cardiac failure with tonsil and adenoid hypertrophy . Arch Otolaryngol 98:277-281, 1973.Crossref 32. Thanopoulos B, Skkos DD, Milingos M, et al: Cardiorespiratory syndrome due to enlarged tonsils and adenoids . Acta Paediatr Scand 64:659-663, 1975.Crossref 33. Weitzman ED, Pollak CP, Borowiecki B, et al: The hypersomnia-sleep apnea syndrome: Site and mechanism of upper airway obstruction , in Guilleminault C, Dement WC (eds): Sleep Apnea Syndromes . New York, Alan R Liss Inc, 1978, chap 15, pp 235-248. 34. Maue-Dickson W, Dickson DR, Rood SR: Anatomy of the Eustachian tube and related structures in age-matched human fetuses with and without cleft palate . Trans Am Acad Ophthalmol Otolaryngol 82:159-163, 1976.

Journal

Archives of OtolaryngologyAmerican Medical Association

Published: Mar 1, 1979

References