ORAL-FACIAL-DIGITAL SYNDROME IN A CHROMOSOMALLY NORMAL MALE

Abstract

Oral-facial-digital syndrome has been described almost exclusively in females. The few males that have been reported with classical features of the syndrome have had abnormal karyotypes. A 20-month-old, living, male child with characteristic clinical features of oral-facial-digital syndrome is described. This child has a normal chromosome complement of 46 with an XY sex chromosome constitution. It is suggested that the survival of this child represents the extreme of the variability of expressivity in this syndrome.