Frontonasal dysplasia is thought to be a sporadic condition limited to
the face and head. We describe a family from the Bahamas in which a m
other, 2 of her children, and the mother's brother have variable manif
estations of frontonasal dysplasia. The mother has extremely mild expr
ession, but her brother and 2 sons are more severely affected. Besides
polydactyly no other birth defects were noted in any other relatives.
The pedigree is consistent with autosomal or X-linked dominant inheri
tance. A description of each patient is presented along with a discuss
ion of the genetic counseling issues and review of the literature for
other possibly familial cases of frontonasal dysplasia. (C) 1993 Wiley
-Liss, Inc.