The hypertelorism-hypospadias syndrome

Recently, an association between telecanthus and/or hypertelorism and hypospadias has been reported in several families. We describe six more families in whom we have found this association. Seven of the eight affected individuals were males. The other was a girl with hypertelorism and a minor urethral abnormality. The mothers in all six families had hypertelorism and/or telecanthus. Mental retardation and cleft palate were also common in our families and those reported previously. The radiologic findings in our first family, which was reported elsewhere as the "branchio-skeletal-genital syndrome," are considered in detail and include skull abnormalities, maxillary hypoplasia, dentigerous cysts and vertebral abnormalities.