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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.