title: Frontonasal dysplasia in two successive generations.
abstract: 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 mother, 2 of her children, and the mother's brother have variable manifestations of frontonasal dysplasia. The mother has extremely mild expression, 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 inheritance. A description of each patient is presented along with a discussion of the genetic counseling issues and review of the literature for other possibly familial cases of frontonasal dysplasia.
authors.affiliation: Department of Pediatrics, University of Virginia Health Science Center, Charlottesville 22908.
authors.forename: J S
authors.initials: JS
authors.lastname: Fryburg
authors.forename: J A
authors.initials: JA
authors.lastname: Persing
authors.forename: K Y
authors.initials: KY
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D014960:X Chromosome