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Total laryngotracheal hypoplasia in a case of G syndrome

Published online by Cambridge University Press:  29 June 2007

J. G. Buckley ,
A. E. Hinton ,
G. Penter  and
P. A. Fardon
J. G. Buckley*
Affiliation:
E.N.T. Department Selly Oak Hospital
A. E. Hinton
Affiliation:
E.N.T. Department Selly Oak Hospital
G. Penter
Affiliation:
Radiology Department, Birmingham Children's Hospital.
P. A. Fardon
Affiliation:
Clinical Genetics Department, Birmingham Maternity Hospital.
*
ENT Department, St. Thomas' Hospital, London SE1 7EH.
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Abstract

We report a case of congenital hypoplasia of the larynx and trachea in the presence of an essentially normal cartilaginous structure. To knowledge this abnormality is not recognized in the literature. Previously reported hypoplasitc laryngeal anomalies have all shown anatomical defects ranging form clefts to atresia (Smith and Bain 1965, Gatti et al.,1987). Similarly total congenital tracheal stenosis is accompanied by abnormalities of the cartilaginous structure, usually complete tracheal rings. These types of anomaly typically present either at, or soon after, birth and are associated with other congenital abnormalities. In this particular case the largngotracheal hypoplasia occurred in the context of a hereditary condition of multiple congenital abnormalities known as G syndrome (also known as Opitz-Frias syndrome or the Opitz-G syndrome).

Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 102 , Issue 11 , November 1988 , pp. 1056 - 1059
Copyright
Copyright © JLO (1984) Limited 1988

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References

Benjamin, B., Pitkin, J. and Cohen, D. (1981) Congenital tracheal stenosis. Annals of Otology, Rhinology and Laryngology, 90 (4):364–71.CrossRefGoogle ScholarPubMed
Campbell, D. N. and Lilly, J. R. (1986) Surgery for total congenital tracheal stenosis. Journal of Paediatric Surgery, 21: 934–935.Google Scholar
Cote, G. B., Katsantoni, A., Papadakou-Lagoyanni, S., Costalos, C., Timotheou, T., Skordalakis, A., Deligeorgis, D. and Pan-telakis, S. (1981) The G syndrome of dysphagia, ocular hypertelorism and hypospadias. Clinical Genetics, 19: 473–478.Google Scholar
Evans, W. A. Jr. (1949) Congenital obstructions of the respiratory tract 1. Tracheal malformations.American Journal of Roentgenology, 62; 167–176.Google Scholar
Farndon, P. A. and Donnai, D. (1983) Male to male transmission of the G syndrome. Clinical Genetics, 24: 446–488.CrossRefGoogle ScholarPubMed
Fearon, B. and Shortreed, R. (1963) Tracheobronchial compression by congenital cardiovascular anomalies in children. Syndrome of apnoea. Annals of Otology, Rhinology and Laryngology, 72: 949–969.Google Scholar
Frias, J. L. and Rosenbloom, A. L. (1975) Two new familial cases of the G syndrome. Birth defects: Original Articles Series Vol XI No. 2: 54–57.Google Scholar
Funderburk, S. J. and Stewart, R. (1978) The G and BBB syndromes: Case presentations, Genetics and Nosology. American Journal of Medical Genetics, 2: 131–144.CrossRefGoogle Scholar
Gatti, W. M., McDonald, E., and Orfei, E. (1987) Congenital laryngeal atresia. Laryngoscope, 97: 966–969.Google Scholar
Gilbert, E. F., Visekul, C., Mossman, H. W. andOpitz, J. M. (1972) The pathologic anatomy of the G syndrome. Zeitschrift fur Kind-erheilkunde, 11; 290–298.CrossRefGoogle Scholar
Holinger, P. H., Johnson, K. C, Parchet, V. N. and Zimmerman, A. A. (1952) Congenital malformations of the trachea, bronchi and lung. Annals of Otology, Rhinoogy and Laryngology, 61; 1159–1180.Google Scholar
Kasner, J., Gilbert, E. F., Visekul, C. (1974) Studies of the malformation syndromes VID: The G syndrome. Further observations. Zeitschrift fur Kinderheilkunde, 118: 81–85.Google Scholar
Little, J. R. and Opitz, M. (1971) The G syndrome. American Journal of Diseases of Childhood, 121: 505–507.Google Scholar
Miller, P. R., Bernstein, R. M., Pathak, A. and Decancq, H. G. (1977) Hypertelorism-Hypospadias syndrome with a laryngotracheo-oesophageal cleft. Journal of Paediatrics, 90: 157–158.Google Scholar
Opitz, J. M., Frias, J. L., Gutenberger, J. E. and Pellet, J. R. (1969) The G syndrome of multiple congenital anomalies Birth Defects. Original Article Series Vol V No. 2: 95–101.Google Scholar
Smith, I.I, and Bain, A. D. (1965) Congenital atresias of the larynx. Annals of Otology, Rhinology and Laryngology, 74: 338–349.CrossRefGoogle ScholarPubMed
Smith, R. G. H., Smith, M. C. F., Glossop, L.P., Bailey, C. M. and Evans, J. N. G. (1984) Congenital vascular anomalies causing Tracheooesophageal compression. Archives of Otolaryngology, 110: 82–87.Google Scholar
Van Biervliet, J. P. G. M. and Van Hemel, J. O. (1975) Familial occurrence of the G syndrome. Clinical Genetics, 7: 238–244.Google Scholar
Young, I. D. (1983) A case of the G syndrome. Journal of Medical Genetics, 20: 150–151.CrossRefGoogle ScholarPubMed