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. Therefore, liveborn males are exceptional. This liveborn male also had Dandy-Walker malformation 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.
Gillerot
Y
Y
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Heimann
M
M
Fourneau
C
C
Verellen-Dumoulin
C
C
Van Maldergem
L
L
D003616:Dandy-Walker Syndrome / Q000150:complications; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000150:complications / Q000473:pathology*; D017044:Polycystic Kidney, Autosomal Recessive / Q000150:complications / Q000473:pathology; D014960:X Chromosome