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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1988 Aug;25(8):536–542. doi: 10.1136/jmg.25.8.536

The telecanthus-hypospadias syndrome.

C A Stevens 1, R S Wilroy Jr 1
PMCID: PMC1080030  PMID: 3050099

Abstract

The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. Heterozygous females have telecanthus. We have summarised the historical and phenotypic findings of 21 patients in seven previous publications. We have also had the opportunity to evaluate personally 12 families with a total of 18 affected males. The most frequent anomalies in patients previously reported are telecanthus 21/21, hypospadias 19/21, cleft lip/palate or uvula 7/21, high, broad nasal bridge 15/15, cranial abnormality 6/21, congenital heart defect 5/21, cryptorchidism 9/21, and mental retardation 11/17. In our series, the most frequent anomalies include telecanthus 18/18, hypospadias 18/18, cleft lip/palate or uvula 8/18, high, broad nasal bridge 10/11, cranial abnormality 12/18, congenital heart defect 3/18, upper urinary tract anomaly 4/9, and mental retardation 10/12. There is also an increased incidence of like-sex twinning, 11/18 in our families. This syndrome must be more common than reflected in published reports. Based upon the observation that males are much more severely affected than females and the lack of male to male transmission, it appears that this condition is most likely to be inherited in an X linked fashion. Further elucidation of the phenotype and documentation of the inheritance is needed. The distinction between the telecanthus-hypospadias syndrome and the G syndrome also needs further clarification.

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Selected References

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  1. Cordero J. F., Holmes L. B. Phenotypic overlap of the BBB and G syndromes. Am J Med Genet. 1978;2(2):145–152. doi: 10.1002/ajmg.1320020205. [DOI] [PubMed] [Google Scholar]
  2. Farndon P. A., Donnai D. Male to male transmission of the G syndrome. Clin Genet. 1983 Dec;24(6):446–448. doi: 10.1111/j.1399-0004.1983.tb00101.x. [DOI] [PubMed] [Google Scholar]
  3. Funderburk S. J., Stewart R. The G and BBB syndromes: case presentations, genetics, and nosology. Am J Med Genet. 1978;2(2):131–144. doi: 10.1002/ajmg.1320020204. [DOI] [PubMed] [Google Scholar]
  4. Gonzalez C. H., Herrmann J., Opitz J. M. Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome. Case report and review. Eur J Pediatr. 1977 Apr 26;125(1):1–13. doi: 10.1007/BF00470600. [DOI] [PubMed] [Google Scholar]
  5. Michaelis E., Mortier W. Association of hypertelorism and hypospadias--the BBB-syndrome. Helv Paediatr Acta. 1972 Dec;27(6):575–581. [PubMed] [Google Scholar]
  6. Miller P. R., Bernstein R. M., Pathak A., Decancq H. G., Jr Hypertelorism-hypospadias syndrome with a laryngotracheoesophageal cleft. J Pediatr. 1977 Jan;90(1):157–158. doi: 10.1016/s0022-3476(77)80796-8. [DOI] [PubMed] [Google Scholar]
  7. Reed M. H., Shokeir M. H., Macpherson R. I. The hypertelorism-hypospadias syndrome. J Can Assoc Radiol. 1975 Dec;26(4):240–248. [PubMed] [Google Scholar]
  8. Stoll C., Geraudel A., Berland H., Roth M. P., Dott B. Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome. Am J Med Genet. 1985 Feb;20(2):221–225. doi: 10.1002/ajmg.1320200203. [DOI] [PubMed] [Google Scholar]
  9. da Silva E. O. The hypertelorism-hypospadias syndrome. Clin Genet. 1983 Jan;23(1):30–34. doi: 10.1111/j.1399-0004.1983.tb00433.x. [DOI] [PubMed] [Google Scholar]

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