Hostname: page-component-76fb5796d-x4r87 Total loading time: 0 Render date: 2024-04-26T18:25:57.427Z Has data issue: false hasContentIssue false
  • English
  • Français

The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome

Published online by Cambridge University Press:  29 June 2007

Brendan J. Conlon  and
Tadhg O'Dwyer
Brendan J. Conlon
Affiliation:
Department of Otolaryngology, The Children's Hospital, Temple Street, Dublin 1, Ireland
Tadhg O'Dwyer*
Affiliation:
Department of Otolaryngology, The Children's Hospital, Temple Street, Dublin 1, Ireland
*
Address for correspondence: Mr Tagdh O'Dwyer, F.R.C.S.I., F.R.C.S., Consultant Otolaryngologist, The Children's Hospital, Temple Street, Dublin 1, Ireland
Get access Rights & Permissions [Opens in a new window]

Abstract

We report on a family exhibiting a range of congenital anomalies consistent with the G syndrome of Opitz. Three members of the family had laryngo-tracheo-oesophageal clefts, one of which succumbed. There was a strong family history of perinatal mortality on the maternal side of the family. We note also the paucity of reported cases of this syndrome in the otolaryngological literature and stress the necessity of early diagnosis in the management.

Keywords

G syndromeBBB syndromehypertelorismlaryngo-tracheal clefthypospadiasOpitz-Frias syndrome
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 109 , Issue 3 , March 1995 , pp. 244 - 246
Copyright
Copyright © JLO (1984) Limited 1995

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Benjamin, B., Inglis, A. (1989) Minor congenital laryngeal clefts; diagnosis and classification. Annals of Otology, Rhinology and Laryngology 98: 417–420.CrossRefGoogle ScholarPubMed
Cappa, M., Borelli, P., Marini, R., Neri, G. (1987) The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndrome. American Journal of Medical Genetics 28: 303–309.CrossRefGoogle Scholar
Funderburk, S. J., Stewart, R. (1978) The G and BBB syndromes: case presentations, genetics, and nosology. American Journal of Medical Genetics 2: 131–144.CrossRefGoogle Scholar
Little, J. R., Opitz, J. M. (1971) The G syndrome. American Journal of Diseases of Children 121: 505–507.Google ScholarPubMed
Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. (1969) The G syndrome of multiple congenital anomalies. In The Clinical Delineation of Birth defects. II: Malformation Syndromes. (Bergsma, D., ed); The National Foundation – March of Dimes, BD: OAS V(2), New York, pp 95–101.Google Scholar
Richter, C. F. (1772) Dissertatio medica de infantidico In artis ohsterriciae, Med Diss, Leipzig.Google Scholar
Sedano, H., Gorlin, R. (1988) Opitz oculo-genital-laryngeal syndrome. American Journal of Medical Genetics 30: 847–849.CrossRefGoogle ScholarPubMed