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Hereditary Agenesis of Nasal Cartilage: Surgical Implications

Hereditary Agenesis of Nasal Cartilage: Surgical Implications Abstract • In the evaluation of a patient for cosmetic surgery, an underlying congenital origin for the deformities noted, with possible expression in multiple organ systems, should always be considered. In this case, a 19-year-old woman requesting rhinoplasty exhibited facial anomalies: lack of quadrangular and lower lateral cartilages, small bony dorsum, underdeveloped aural cartilage, and infantile larynx and trachea. Otherwise healthy, she recalled having recurrent bouts of croup until she was 15 years old, exercise limitation secondary to stridor, and a family history of nasal hypoplasia. Genetic referral diagnosed her condition as Opitz-BBB/G compound syndrome (oculogenitolaryngeal syndrome), and we here review its head and neck manifestations. Suspected agenesis of nasal cartilage, unreported in previous literature (to our knowledge), was confirmed intraoperatively and presented a unique challenge for reconstruction, including a restricted choice of anesthesia and a need for banked cartilage. (Arch Otolaryngol Head Neck Surg. 1989;115:985-988) References 1. Opitz JM, Smith DW, Summitt RL. Hypertelorism and hypospadias: a newly recognized hereditary malformation syndrome . J Pediatr. 1965;67:968. 2. Opitz JM, Frias JL, Gutenberger JE, Pellett JR. The G syndrome of multiple congenital anomalies . Birth Defects. 1969;5:95-101. 3. Opitz JM, Summitt RL, Smith DW. The BBB syndrome: familial telecanthus with associated congenital anomalies . Birth Defects. 1969;5:86-94. 4. Côté GB, Katsantoni A, Papadakou-Lagoyanni S, et al. The G syndrome of dysphagia, ocular hypertelorism and hypospadias . Clin Genet. 1981;19:473-478.Crossref 5. Little JR, Opitz JM. The G syndrome . AJDC. 1971;121:505-507. 6. Gonzalez CH, Hermann J, Opitz JM. Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome . Eur J Pediatr. 1977;125:1-13.Crossref 7. Opitz JM. G syndrome (hypertelorism with esophageal abnormality and hypospadias or hypospadias-dysphagia, 'Opitz-Frias' or 'Opitz G' syndrome): perspective in 1987 and bibliography . Am J Med Genet. 1987;28:275-285.Crossref 8. Cordero JF, Holmes LB. Phenotypic overlap of the BBB and G syndromes . Am J Med Genet. 1978;2:145-152.Crossref 9. Gorlin RJ. Syndromes of the Head and Neck . 3rd ed. New York, NY: Oxford University Press Inc. In press. 10. Christian JC, Bixler D, Blythe SC, Merritt AD. Familial telecanthus with associated congenital anomalies . Birth Defects. 1969;5:82-85. 11. Coburn TP. G syndrome . AJDC. 1970; 120:466. 12. Frias JL, Rosenbloom AL. Two familial cases of the G syndrome . Birth Defects. 1975; 11:54-57. 13. Arya S, Visekul EF, Gilbert EF. The G syndrome: additional observations . Am J Med Genet. 1980;5:321-324.Crossref 14. Farndon PA, Donnai D. Male-to-male transmission of the G syndrome . Clin Genet. 1983;24:446-448.Crossref 15. Cappa M, Borrelli P, Marini R, Neri G. The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes . Am J Med Genet. 1987;28:303-309.Crossref 16. Miller PR, Bernstein RM, Pathak A, Decancq HG Jr. Hypertelorism-hypospadias syndrome with a laryngotracheo-esophageal cleft . J Pediatr. 1977;90:157-158.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology - Head & Neck Surgery American Medical Association

Hereditary Agenesis of Nasal Cartilage: Surgical Implications

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Publisher
American Medical Association
Copyright
Copyright © 1989 American Medical Association. All Rights Reserved.
ISSN
0886-4470
eISSN
1538-361X
DOI
10.1001/archotol.1989.01860320095026
Publisher site
See Article on Publisher Site

Abstract

Abstract • In the evaluation of a patient for cosmetic surgery, an underlying congenital origin for the deformities noted, with possible expression in multiple organ systems, should always be considered. In this case, a 19-year-old woman requesting rhinoplasty exhibited facial anomalies: lack of quadrangular and lower lateral cartilages, small bony dorsum, underdeveloped aural cartilage, and infantile larynx and trachea. Otherwise healthy, she recalled having recurrent bouts of croup until she was 15 years old, exercise limitation secondary to stridor, and a family history of nasal hypoplasia. Genetic referral diagnosed her condition as Opitz-BBB/G compound syndrome (oculogenitolaryngeal syndrome), and we here review its head and neck manifestations. Suspected agenesis of nasal cartilage, unreported in previous literature (to our knowledge), was confirmed intraoperatively and presented a unique challenge for reconstruction, including a restricted choice of anesthesia and a need for banked cartilage. (Arch Otolaryngol Head Neck Surg. 1989;115:985-988) References 1. Opitz JM, Smith DW, Summitt RL. Hypertelorism and hypospadias: a newly recognized hereditary malformation syndrome . J Pediatr. 1965;67:968. 2. Opitz JM, Frias JL, Gutenberger JE, Pellett JR. The G syndrome of multiple congenital anomalies . Birth Defects. 1969;5:95-101. 3. Opitz JM, Summitt RL, Smith DW. The BBB syndrome: familial telecanthus with associated congenital anomalies . Birth Defects. 1969;5:86-94. 4. Côté GB, Katsantoni A, Papadakou-Lagoyanni S, et al. The G syndrome of dysphagia, ocular hypertelorism and hypospadias . Clin Genet. 1981;19:473-478.Crossref 5. Little JR, Opitz JM. The G syndrome . AJDC. 1971;121:505-507. 6. Gonzalez CH, Hermann J, Opitz JM. Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome . Eur J Pediatr. 1977;125:1-13.Crossref 7. Opitz JM. G syndrome (hypertelorism with esophageal abnormality and hypospadias or hypospadias-dysphagia, 'Opitz-Frias' or 'Opitz G' syndrome): perspective in 1987 and bibliography . Am J Med Genet. 1987;28:275-285.Crossref 8. Cordero JF, Holmes LB. Phenotypic overlap of the BBB and G syndromes . Am J Med Genet. 1978;2:145-152.Crossref 9. Gorlin RJ. Syndromes of the Head and Neck . 3rd ed. New York, NY: Oxford University Press Inc. In press. 10. Christian JC, Bixler D, Blythe SC, Merritt AD. Familial telecanthus with associated congenital anomalies . Birth Defects. 1969;5:82-85. 11. Coburn TP. G syndrome . AJDC. 1970; 120:466. 12. Frias JL, Rosenbloom AL. Two familial cases of the G syndrome . Birth Defects. 1975; 11:54-57. 13. Arya S, Visekul EF, Gilbert EF. The G syndrome: additional observations . Am J Med Genet. 1980;5:321-324.Crossref 14. Farndon PA, Donnai D. Male-to-male transmission of the G syndrome . Clin Genet. 1983;24:446-448.Crossref 15. Cappa M, Borrelli P, Marini R, Neri G. The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes . Am J Med Genet. 1987;28:303-309.Crossref 16. Miller PR, Bernstein RM, Pathak A, Decancq HG Jr. Hypertelorism-hypospadias syndrome with a laryngotracheo-esophageal cleft . J Pediatr. 1977;90:157-158.Crossref

Journal

Archives of Otolaryngology - Head & Neck SurgeryAmerican Medical Association

Published: Aug 1, 1989

References