Oral-facial-digital syndrome type I in a newborn male

We report on a newborn male, born at term with clinical manifestations of oral-facial-digital (OFD) syndrome type I. This syndrome is generally assumed to be inherited in an X-linked dominant fashion with lethality in males. Therefor, liveborn males are exceptional. This liveborn ale also had Dandy-walker malforation and polycystic kidneys.

From a general point of view, distinction between the 8 types of (OFD) syndromes described so far appears subtle and considerable overlap exists between them. In this regard, it should be noted that polycystic kidneys different from adult polycystic kidney disease both macroscopically and microscopically are a frequent manifestation of OFD I. © 1993 Wiley-Liss, Inc.